The Hemochromatosis Gene

Official Gene Symbol: HFEAlternate Symbol: HLA-H

Name of Gene Product: hereditary hemochromatosis protein

Locus: 6p21.3 The HFE gene is found in region 21.3 on the short (p) arm of human chromosome 6.

Size: The HFE gene’s 7 coding regions (exons) are scattered over about 10,000 base pairs of genomic DNA. Exons translated into the HFE protein are interspersed with segments of noncoding DNA (introns). After transcription, introns are spliced out and exons are pieced together to form an mRNA transcript about 2700 bp long. The mRNA is then translated into the 348-amino acid sequence of the hereditary hemochromatosis protein [1,2,3]. Mutations in the HFE gene can result in hereditary hemochromatosis (HH).

Protein Function

The HFE protein is a transmembrane protein expressed in intestinal and liver cells; it works in conjunction with another small protein called beta-2-microglobulin to regulate iron uptake [4]. Although homologous to other major histocompatibility complex (MHC) class I proteins that present antigens to killer T cells, the HFE protein appears to have no immunological function [5]. The HFE protein is an interesting example of how homology is not always an indicator of protein function.


Sequence ExerciseThe “mRNA” sequences obtained from databases such as NCBI’s GenBank are actually complementary DNA (cDNA) sequences generated from mRNA transcripts extracted from cells. Genomic DNA sequences of eukaryotic organisms contain coding segments (exons) interspersed with noncoding segments (introns). During transcription, introns are spliced out and exons are pieced together to form messenger RNA (mRNA). In addition to containing nucleotides that are translated into the amino acid sequence of a particular protein, mRNA also contains untranslated regions upstream and downstream of the coding sequence. Intron-free cDNA sequences synthesized from mRNA also comprise these untranslated regions.

Use the Table of Standard Genetic Code to find the initiation codon (ATG) and next nine codons in the HFE nucleotide sequence shown below. The first 10 amino acids of the hereditary hemochromatosis (HH) protein sequence are as follows:

M G P R A R P A L L

1 ggggacactg gatcacctag tgtttcacaa gcaggtacct tctgctgtag gagagagaga
61 actaaagttc tgaaagacct gttgcttttc accaggaagt tttactgggc atctcctgag
121 cctaggcaat agctgtaggg tgacttctgg agccatcccc gtttccccgc cccccaaaag
181 aagcggagat ttaacgggga cgtgcggcca gagctgggga aatgggcccg cgagccaggc
241 cggcgcttct cctcctgatg cttttgcaga ccgcggtcct gcaggggcgc ttgctgcgt

Nucleotide sequence taken from NCBI RefSeq record NM_000410

The answer is at the bottom of this page.


Protein StructureHFE protein consists of extracellular alpha-1 and alpha-2 domains that sit on top of the immunoglobulin-like alpha-3 domain, which spans the cell membrane and binds a separate protein called beta-2-microglobulin. The alpha-1 and apha-2 domains interact with the transferrin receptor, another transmembrane protein that plays a very important role in iron uptake and regulation [6].
Figure 1: Two Hfe (Human) Hemochromatosis Protein Molecules.
Source: PDB ID 1A6Z as viewed in Protein Explorer

Figure 1 shows backbone structures of two HFE protein molecules. Blue and green chains represent HFE proteins, and smaller aqua and gold chains represent molecules of beta-2 microglobulin. Purple residues indicate where cysteine 282 is located in each HFE chain. A mutation at cysteine 282 is a common cause of hereditary hemochromatosis.

Common Disease-Causing Mutation

The most common mutation responsible for hereditary hemochromatosis is the substitution of tyrosine for cysteine at the 282nd amino acid position in the protein sequence (C282Y mutation). The cysteine residue at this position is part of a disulfide bond that forms a loop in the alpha-3 domain of the HFE protein.When cysteine 282 is lost, the disulfide bond cannot be formed and the HFE protein’s alpha-3 domain is no longer able to complex with beta-2-microglobulin, which serves as a stabilization factor. As a result, the mutated HFE protein is degraded before it has a chance to be incorporated into the cell membrane.

Cells become iron-overloaded when there is no HFE to negatively regulate the iron flow into the cell’s cytoplasm [4]. Over time, iron overload in these cells can damage tissues and organs, leading to symptoms and complications associated with HH.


Additional Resources
HFE Records from Different Bioinformatics Databases

OMIM Entry for HFE (MIM no. 235200)

NCBI LocusLink Entry for HFE

GeneCard for HFE

Genome Database Entry for HFE

HFE Nucleotide Sequence

NCBI mRNA Reference Sequence NM_000410

NCBI Genomic Nucleotide Sequence from GenBank Z92910

HFE Protein Sequence

NCBI Protein Reference Sequence NP_000401

HFE Protein Structure

1A6Z – Protein Data Bank entry for the Crystal Structure of HFE (Human) Hemochromatosis Protein

1DE4 – Protein Data Bank entry for the Crystal Structure of Human Hemochromatosis Protein HFE Complexed with Transferrin Receptor

HFE Mutation Resources

Human Gene Mutation Database Entry for HFE

Other HFE Web resources

“HFE Gene and Hereditary Hemochromatosis” – Review created by HuGE Net (Human Genome Epidemiology Network) at the Centers for Disease Control and Prevention (CDC). It was also published in the American Journal of Epidemiology 154 (3):193-206 (2001).

“Hemochromatosis: A ‘Simple’ Genetic Trait” – This online publication in Hospital Practice provides an excellent overview of the hemochromatosis gene, protein function (with detailed illustrations), major and minor mutations, and dilemmas associated with screening for the genetic disorder.

Article Reporting HFE Gene Discovery

J. N. Feder et al. “A Novel MHC Class I-like Gene is Mutated in Patients with Hereditary Haemochromatosis.” Natural Genetics 13 (4): 399-408 (Aug. 1996). PMID 8696333.


References

  1. “NM_000410: Homo sapiens Hemochromatosis (HFE), mRNA,” in NCBI RefSeq [database online] (Bethesda, MD: NCBI 2001, accessed February 2002), identifier no. NM_000410.
  2. “Z92910: Homo sapiens HFE Gene,” in NCBI GenBank [database online] (Bethesda, MD: NCBI 2001, accessed February 2002), identifier no. Z92910.
  3. “NP_000401: Hemochromatosis; Haemochromatosis [Homo sapiens],” in NCBI RefSeq [database online] (Bethesda, MD: NCBI 2001, accessed February 2002), identifier no. NP_000401.
  4. R. D. Press. “Hemochromatosis: A ‘Simple’ Genetic Trait.” Hospital Practice (1999, accessed February 2002) < http://www.hosppract.com/genetics/9908mmc.htm>
  5. H. Drakesmith and A. Townsend. “The Structure and Function of HFE.” BioEssays 22: 595-98 (2000).
  6. M. J. Bennett, J. A. Lebron, and P. J. Bjorkman. “Crystal Structure of the Hereditary Haemochromatosis Protein HFE Complexed with Transferrin Receptor.” Nature 403: 46-53 (2000)

What is Ironic Health ?

IRBook1Ironic Health is a book authored by Dr Chris Whittington regarding her experiences studying hemochromatosis cases with Professor Lawrie Powell probably the foremost authority on Hereditary Hemochromatosis in the world. It was he who convinced the world that Hereditary Hemochromatosis was a genetic disease in 1989 and provided the impetus for the work that was to lead to the cloning of the HFE gene in1996.

Why Should I Purchase Ironic Health ?

When you purchase and read Ironic Health, you will get

  • An understanding of Hemochromatosis
  • Information presented by reference to real world case studies
  • Very readable presentation of the information

How do I get the eBook ?

Ironic Health is available as an eBook (in PDF Format) downloaded from the internet immediately.

You also receive a bonus with the download, a collection of articles authored in the main by Dr Whittington.

Who is Dr Chris Whittington ?

Dr. Chris Whittington is a recognised authority on hemochromatosis and has practised medicine in Australia, New Zealand and Canada and has lived in Canada since 1985.

Dr Whittington

  • Currently practices in Abbotsford, British Columbia.
  • Is a Clinical Associate Professor of Family Practice at the University of British Columbia.
  • Is a Past President of the British Columbia College of Family Physicians.
  • Has published and presented a number of papers on Hemochromatosis
  • Is currently engaged in ongoing research into Hereditary Hemochromatosis

What Dr Whittington’s Peers have Said

“Chris Whittington’s comprehensive review of hemochromatosis in the real world- Ironic Health – is a ‘must read’ for both patients and their doctors. Make it a point to read this one from cover to cover”

Sandra Thomas, President/Founder American Hemochromatosis Society

An insightful look at how hemochromatosis affects so many different people. Very readable and interesting.”

Charm Cottingham, President, Canadian Hemochromatosis Society

Hemochromatosis – What is It?

Hemochromatosis (HE-mo-kro-ma-TOE-sis) is a disease in which too much iron builds up in your body

Hereditary Hemochromatosis (HH) is the most common genetic disorder of persons of northern European extraction. Most people with hemochromatosis inherit the condition from their parents. If you inherit two hemochromatosis genes, one from each parent, you will have the condition. These two abnormal genes cause your body to absorb more iron than usual from the diet. The most common gene involved in causing Hereditary Hemochromatosis is the HFE gene.

One in seven persons of northern European extraction carries one copy of the mutant HFE gene C282Y. Approximately 1 in 200 to 300 persons of northern European extraction carry two copies of C282Y.

In some northern European populations eg Ireland, Iceland and Brittany the percentage of persons carrying one copy of C282Y is higher. Predictably countries settled by northern Europeans eg Australia, South Africa and Canada have high rates of HH.

Two copies can predispose to the iron overload disorder hemochromatosis. This may present as chronic fatigue, skin pigmentation, heart irregularities, impotence, diabetes, dysfunction of the liver, cirrhosis or cancer, premature menopause, arthritis or decreased functioning of the thyroid.

Even one copy of C282Y can be associated with too much iron in the liver, high cholesterol, diabetes and the skin disorder porphyria cutanea tarda. Other mutant genes exist and are distributed throughout the world’s population.

Effects

Iron can build up in most of your body’ s organs, but especially in the liver, heart, and pancreas. When this happens, the iron can poison the organs and lead to organ failure.

If  is not treated liver disease may be fatal.

The disease  can lead to

  • Enlargement, cirrhosis or cancer of the liver.
  • Heart Problems. Hemochromatosis can cause irregular heart rate or rhythm and lead to heart failure
  • Pancreas Problems. Hemochromatosis can lead to diabetes mellitus.

Patient Outlook

The morbidity and mortality of HH can be reduced by early diagnosis and treatment by phlebotomy or blood letting. Bloodletting or deironing often results in considerable improvement in the health of patients. Early diagnosis and treatment are important. Treatment may be able to prevent, delay, or sometimes reverse complications of the disease

Diet can help

When the diagnosis of hemochromatosis is made it is important to adjust the diet so that too much iron is not being absorbed because of an improper diet. The biggest considerations are not to take medications which contain iron, consume too much alcohol or Vitamin C. Excessive alcohol consumption has shown to greatly increase iron absorption in those with hemochromatosis. Vitamin C enhances the absorption of iron. It is wise only to consume a moderate amount and not take Vitamin C tablets. Vitamin C has been known to precipitate heart palpitations in those with HH.

Treatment of iron overload disorder  is critical in order to prevent damage to vital organs and serious complications such as diabetes and cirrhosis of the liver. For people who are diagnosed and treated early, normal life spans are possible. If left untreated, hemochromatosis can lead to severe organ damage and even death.

Hemochromatosis in the Japanese

Hemochromatosis in the Japanese is extremely rare; only 19 cases to date have been described. In 2001 an iron overload disorder was accidentally found in a 56 year old Japanese woman. Investigation of her family revealed two other siblings affected with iron overload.

Four affected family members were subsequently recognized and the genetic mutation identified as autosomal dominant as it spanned two generations. A single point mutation (A49U) was located in the iron responsive element (IRE) motif of H-ferritin mRNA. This gene is called FTH1. This disorder is sometimes called hemochromatosis type 5 or Japanese iron overload.

Other causes of hemochromatosis in the Japanese have also been noted. The C282Y mutation is very rare in the Japanese. However one C282Y homozygote has been found – a 65 year old woman from Kyushu. It is unknown as to whether there is racial admixture in the ancestry of this patient. A screening of over 500 Japanese subjects for C282Y failed to find a single copy of C282Y. Another HFE mutation, Ala176Val, has also been reported. However this patient was a heterozygote. Here digenic inheritance acting with another unknown mutation is possible.

Juvenile hemochromatosis or hemochromatosis type 2 has been identified in the Japanese. Two novel hemojuvelin or HJV mutations, D249H and Q312X, have been reported in three patients from two Japanese families. Of note these patients presented with hemochromatosis that more resembled the classical form than the severe juvenile hemochromatosis that is usually reported with HJV mutations. The patients presented in their fourth and fifth decades as opposed to the usual severe presentation before the age of 30 years. All three patients presented with diabetes mellitus. One patient also had congestive cardiac failure. No HAMP mutations have been reported in the Japanese.

Hemochromatosis type 3 or hemochromatosis due to mutations in Tfr2 has been noted in the Japanese. An AVAQ594-597 deletion was found in a family living on the main island of Japan. Because the AVAQ594-597 deletion was first reported in an Italian family, this indicated a mutation occurring in different ethnic groups. It is likely that this mutation will be found in other ethnicities. Additionally two unrelated patients were found to be homozygous for the novel mutations L490R and V561X in TfR2. All Japanese patients with TfR2 related hemochromatosis showed middle age onset of symptoms of iron overload.

Hemochromatosis type 4 or ferroportin disease has been described in the Japanese. A novel mutation of the FPN1 (SLC40A1) gene, A117G, was found in a 43 year old woman with a severe presentation of the classical form of hemochromatosis. Her transferrin saturation was recorded as high as 92%. She did not have any mutation of HFE, TfR2 or FTH1. Another novel mutation, R489S, was found in a second Japanese family. In contrast, the iron overload in this family presented as mild. Ferroportin disease has been described in Caucasians, Africans and Asians. This suggests that it is one of the more important iron overload syndromes in the world.

Other Japanese patients have been described where the mutant gene has not yet been identified.

Hemochromatosis Population Screening

The most common gene involved in causing Hereditary Hemochromatosis (HH) is the HFE gene. Most patients with hemochromatosis have two copies of the HFE mutation C282Y. A smaller percentage of patients have one copy of C282Y and one copy of another mutation known as H63D. Persons with the C282Y/H63D genotype are called compound heterozygotes.

In persons of northern European extraction approximately 1 in 10 persons carries one copy of C282Y. Carriers of one mutation for C282Y are known as C282Y heterozygotes. Approximately 1 in 200 to 300 persons of northern European extraction carries two copies of C282Y. These persons are known as C282Y homozygotes.

In some northern European populations eg Ireland, Iceland and Brittany the percentage of persons carrying one copy of C282Y is higher and the rate of hemochromatosis is thus higher in these countries. Predictably countries settled by northern Europeans eg Australia, South Africa and Canada have high rates of hemochromatosis.

Hereditary Hemochromatosis fits the criteria set by the World Health Organization for population screening for a disease:

  1. The homozygous genotype is common and it is potentially fatal if not treated
  2. The disease has a lengthy latent period with asymptomatic iron accumulation followed by a period of iron overload with reversible organ injury
  3. Treatment during the latent period and the period with reversible organ injury restores the life expectancy to normal. (Treatment is safe, effective and cost effective)
  4. HH can be detected by measurement of the transferrin saturation (TS).

It is relatively easy to identify asymptomatic persons in whom iron indices are elevated but HH is not clinically apparent. TS values above 45% for women and 55% for men are suggestive of iron overload. TS levels should be fasting values. Borderline values should be repeated. In patients suspected of having iron overload detected by a high TS value further screening should be a ferritin level and HFE gene testing. It is important to identify potential cases of iron overload. Not all patients with C282Y/C282Y or C282Y/H63D genotypes will load iron. Once potential cases of hemochromatosis are identified they should be followed to see if they accumulate iron and treated accordingly. If the ferritin level exceeds 200 ug/L in men and 300 ug/L in women in identified cases of hemochromatosis they should be deironed to 25 – 75 ug/L and kept in this range.

While most cases of Hereditary Hemochromatosis are C282Y homozygotes or C282Y/H63D compound heterozygotes other variations do occur. Sometimes it is not possible to identify other contributing genetic mutations. There is a lot of current research focused on this area. There are a few laboratories in the world where other mutations are tested for but these are generally not accessible to the general population. Thus sometimes it must be assumed that a patient has an unidentified mutation eg if a patient is a C282Y heterozygote and has a TS value of 90% and a ferritin level of 1,500 ug/L it is probable that this person has hemochromatosis and should be treated accordingly.

Dr Chris Whittington

Dr. Chris Whittington was born in Australia in 1955. She graduated with a medical degree from the University of Queensland, Australia in 1979. Dr. Whittington has practised medicine in Australia, New Zealand and Canada and has lived in Canada since 1985. She is a Clinical Associate Professor of Family Practice at the University of British Columbia and practices in Abbotsford, British Columbia where she lives with her two sons. Dr. Whittington is a Past President of the British Columbia College of Family Physicians. She is currently engaged in ongoing research into hereditary hemochromatosis.

Dr. Whittington’s interest in hemochromatosis began when her mother was diagnosed with hereditary hemochromatosis in the early 1990′s. At this time the disorder was still thought to be rare. As a consequence of this diagnosis her uncle, aunt, several cousins and eventually her brother were found to also suffer from hereditary hemochromatosis. Dr. Whittington’s mother was one of the first people in the world to have genetic testing for hereditary hemochromatosis in 1997. Her mother was found to carry two copies of the C282Y mutation of the HFE gene. Dr Whittington’s mother is of complete Irish extraction. Celtic heritage is not uncommon in those with hereditary hemochromatosis. The diagnosis on Dr Whittington’s mother, done well before hemochromatosis became a much better known disorder, was no doubt due greatly to the brilliant work and research on the disorder that had been ongoing for decades in Queensland, Australia.

In the summer of 2001 Dr. Whittington went back to Queensland to do research and study with Professor Lawrie Powell. Professor Powell is probably the foremost authority on hereditary hemochromatosis in the world. It was he who convinced the world that hereditary hemochromatosis was a genetic disease in 1989 and provided the impetus for the work that was to lead to the cloning of the HFE gene in 1996. Since that time the understanding of hemochromatosis and iron metabolism has been propelled forward at an incredible rate. That research trip formed the basis of her book Ironic Health available from this website.

Dr Whittington has published numerous papers on hemochromatosis. Her research is original and often clinically based. She draws her ideas for research from her patients, colleagues and lay persons who have an interest in hemochromatosis. Her mother’s Irish heritage has been the basis of original research.

Some of the papers Dr Whittington has written on hemochromatosis and related disorders include:

  • A Gene Pool for Haemochromatosis Research: Irish Immigrants in Australia.
  • Irish Population at Risk of Haemochromatosis.
  • Review Article: Haemochromatosis.
  • Genetics of Hereditary Hemochromatosis.
  • Interaction Between HFE Mutations and Beta Thalassemia Trait(s).
  • The C282Y mutation may have been positively selected as it mitigates the infertility of celiac disease.
  • Was the C282Y mutation an Irish Gaelic mutation that the Vikings help disseminate?
  • Hypotransferrinemia obscuring the diagnosis of C282Y hemochromatosis.
  • Correlation of arthritis of the second and third metacarpophalangeal joints with severity of iron overload in C282Y homozygous hemochromatosis.
  • H63D homozygous hemochromatosis does not appear to be protective of the anemia of celiac disease: a case report.
  • Two cases of latent porphyria cutanea tarda presenting as hyperferritinemia.

Type 4 Hemochromatosis – What is it?

Hemochromatosis type 4 or ferroportin disease is an autosomal dominant form of primary iron overload which occurs in adults. An affected individual has a 50% chance of passing the disorder to offspring. Ferroportin binds with hepcidin to regulate export of iron from cells. Defective ferroportin is postulated to interfere with this function.

Ferroportin disease usually has features distinct from HFE hemochromatosis. There is an early increase in serum ferritin despite a low or normal transferrin saturation. Progressive iron accumulation occurs in organs especially the liver and spleen and reticuloendothelial macrophages. The pattern of iron accumulation in the liver is distinct when examined under the microscope. These patients may be hard to venesect as a borderline anemia with low tolerance to phlebotomy may occur. Venesection may have to consist of smaller units taken over a longer time.

However as more patients with ferroportin disease have been diagnosed the disorder has been shown to be clinically diverse. Some patients can present with a disorder similar to HFE hemochromatosis with high transferrin saturation and loading of iron in parenchymal tissues. Current thinking is that mutations in different regions of the ferroportin gene may cause different functional abnormalities.

The ferroportin gene SLC40A1 (SLC11A3) is located on chromosome 2q32. The first descriptions of the disorder were in 1999 and the first identification of mutations was in 2001 in Dutch and Italian patients with the N144H and A77D mutations respectively. A previously described iron overload disorder in a Solomon Islander was subsequently shown to be a N144T mutation. The most common mutation is probably the Val 162 deletion which has been found widely in persons of different ethnicity from countries as diverse as the United Kingdom, Sri Lanka, Australia, Italy and Greece. Other mutations have been described in Chinese and Japanese patients and Canadian patients of Scandinavian origin. Ferroportin disease appears to be the most common form of iron overload after HFE hemochromatosis. It is possible that ferrroportin disease is actually the most common form of iron overload but undiscovered in the majority of patients worldwide as they do not have access to testing. A ferroportin mutation Q248H has been implicated as a possible cause of African Iron Overload, but this is not proven. Different presentations may occur at different ages for the same patient. It has been shown that transferrin saturation for the Val 162 deletion and to a lesser extent the A77D mutation rises as the patient ages.

Recent work using magnetic resonance imaging has shown differences associated with ferroportin mutations. A classic or common form characterized by liver, spleen and bone macrophage iron retention was shown to occur in patients carrying the A77D, G80S and Val 162 deletion ferroportin variants. A rarer non-classic form associated with liver iron overload but normal spleen and bone marrow iron content was noted in patients with the N144H mutation. Interestingly, in treated patients with the classic form, the spleen and the spine showed appreciable iron accumulation even when serum ferritin was normal and liver iron content low.

Hemochromatosis – Who Gets It?

Hereditary Hemochromatosis (HH) is the most common form of hemochromatosis. It is predominately a disorder of persons of northern European extraction. In this form, patients are most commonly homozygous for (carry two copies of) the C282Y mutation of the HFE gene. Sometimes patients may carry one copy of the C282Y mutation and one copy of the H63D mutation. There are other forms of hemochromatosis and iron overload which will be discussed later.

Hereditary hemochromatosis takes many years to display its true nature. This is because it takes time to load iron in the body. Men usually load more quickly than women. This is because women have monthly menstrual cycles and have children. Each pregnancy is equivalent to the loss of 1 gram of iron. So the bar is “set lower” to confirm the diagnosis of HH in women. Before the true genetic nature of the disorder was recognised the diagnosis was made if the patient could be venesected or de-ironed of 5 grams of blood (if male) without causing significant anemia. If the patient was a woman only 3 grams of iron had to be removed by venesection without causing significant anemia to make the diagnosis. Liver biopsy was not infrequently employed to confirm the diagnosis.

Now with the ready availability of genetic testing the criteria are different. Often the diagnosis can be made using genetic testing and iron studies. Liver biopsy is often now not necessary.

What Happens When A Patient Presents?

Let us assume that a patient has presented with fatigue and arthralgia (aching joints) to a doctor. Now many things can give such a presentation. Paradoxically one of them is anemia or iron deficiency. Anyhow let us assume that the patient is suspected of having hemochromatosis. The patient is a lady of some 65 years of age. She had five children and menopause at age 45 years. She is of Irish/Scottish extraction and her mother died of liver problems – yet her mother never drank a drop of alcohol in her life. The patient is quite fair skinned. However this may be a red herring as not all patients with hemochromatosis go a bronzed or grayish color. When the patient is examined by the doctor she is noted to have enlarged and painful second and third knuckles and pain at the base of her thumbs. This is known as “iron fist” and is a clue to hemochromatosis. Examination of the patient’s abdomen reveals an enlarged liver. So preliminary testing is done. This patient is found to have an enlarged liver on ultrasound – but no cirrhosis. Her ferritin level is 650 ug/L and she has a transferrin saturation of 96%. In itself these are big clues – this patient probably has HH. Genetic testing reveals the patient to be a carrier of two copies of C282Y. Liver function tests are slightly abnormal. Now this patient has HH. A liver biopsy is probably not necessary as the ferritin level is not markedly elevated. Interestingly this patient almost certainly has fibrosis of the liver which may well be reversed if the patient is properly de-ironed.

The treatment for this patient is to de-iron her down to a ferritin level of 25 to 75 ug/L and try and maintain that level. Other comorbid conditions (conditions associated with HH) must be looked for and treated. Of especial importance is diabetes. The patient’s family should also be screened for HH. Those at greatest risk are the patient’s siblings. However all first degree relatives should be screened. Initial testing consists of ferritin levels, transferrin saturations and genetic testing. In this way many early cases of HH are now being picked up and successfully treated before patients load enough iron to give the severe consequences of organ failure.

What Happens If The Patient Cannot Tolerate Venesections?

Our patient – who we shall call Mrs. Abbott – is a small lady. She weighs in at just over 110 lbs and is only 5 foot 2 inches tall. After Mrs. Abbott’s first venesection of 500 mls (which is equivalent to 250 mcg of iron) she is totally exhausted and has difficulty standing for some three days. This is despite adequate hydration before and after venesection. This lady is also known to have osteoporosis (the rate of which is increased in HH) so it is important that she not fall as she could easily break an arm or worse a hip. Another venesection is planned for a week later.

What needs to be done is to decrease the standard venesection unit down to 250 mls and probably do this every few weeks after she has adequately recovered. It will take longer to de-iron Mrs. Abbott, but her treatment overall is safer. If Mrs. Abbott had a ferritin level of say 2,000 ug/L then it would be a tougher call. She would need to be deironed more quickly.

Immediately after venesection a cold pack was applied to Mrs. Abbott’s veins. This was done to preserve the veins. This is especially important in persons with frail veins and those who will need multiple venesections.

After a further 20 venesections of only 250 mls each Mrs. Abbott has a ferritin level of 46 ug/L. She has been successfully deironed. Her liver function tests are now normal and her transferrin saturation has fallen to 45%. Proper treatment is to now monitor Mrs. Abbott and see how quickly she loads iron. She is probably a patient who may only require 2 or 3 (half) venesections per year.

Why Is It Important To Screen Relatives?

Now Mrs. Abbott is from a very large family. She has 10 siblings, all of whom are younger and still alive. There are 5 sisters and 5 brothers. All the siblings are willing to be tested and live close. Often people simply do not want to know. This is of course their right.

Because one C282Y mutation is inherited from each parent Mrs. Abbott’s parents were at least carriers of one C282Y mutation or were C282Y heterozygotes. Both her parents are deceased so they cannot be tested. If we assume that both parents were C282Y heterozygotes then the chance of each of their children carrying two copies of C282Y is 1 in 4 or 25%. If one parent was a C282Y homozygote or carried two copies of C282Y then the children have a 50% chance of carrying two copies of C282Y. If both Mrs. Abbott’s parents carried two copies of C282Y then all her siblings will carry two copies of C282Y.

Mrs. Abbott’s children need also to be tested. She has 5 children. The children live in various locales and are not immediately available for testing. So the alternative is to test Mr. Abbott and work out the possibilities for the children. When Mr. Abbott is tested he is shown to be a C282Y/H63D compound heterozygote. He carries one C282Y mutation and one H63D mutation. However Mr. Abbott is a long time blood donor so it is difficult to assess what his true iron status would have been. He appears to be a nonexpressor i.e.. he is not loading iron. This is the usual case in C282Y/H63D compound heterozygotes. Over the years it turns out that Mr. Abbott has donated 50 pints of blood. His ferritin level is 76 and his transferrin saturation is 41%. Thus it is important to continue to monitor Mr. Abbott who has just turned 65 years of age and been told that he can no longer donate blood. There is a 50% chance that the children of the Abbott’s will carry two copies of C282Y and a 50% chance that they will be compound heterozygotes like their father. So the children all need to be individually tested.

Type 3 Hemochromatosis – What is it

Hemochromatosis type 3 was the first non-HFE form of hemochromatosis for which a molecular diagnosis was made. As HFE hemochromatosis had already been described and the elucidation of juvenile hemochromatosis was well under way the disorder was described as the third type of hemochromatosis identified or hemochromatosis type 3. It is an autosomal recessive disorder and two abnormal copies of the mutation are required to produce the disorder. In 2000 the transferrin receptor 2 (TfR2) gene on chromosome 7q22 was identified as the cause. Transferrin receptor 2 is similar to transferrin receptor 1 which is the predominant form of transferrin receptor, but the two receptors function differently in body tissues. Comparison of the two forms of transferrin receptor helped elucidate TfR2 hemochromatosis.

The first paper describing TfR2 hemochromatosis identified two copies of the Y250X nonsense mutation in six patients from two unrelated Sicilian families. Further mutations have since been identified. Most of the patients who have been identified are Italians. However cases have been reported in French and Japanese patients. Hemochromatosis type 3 is considered a rare disorder. Less than 30 cases were reported up to 2004. The description of Japanese patients is important as hemochromatosis of any form is an unusual disorder in Asians. This is in contrast to hemochromatosis which is described as a common disorder of Caucasians.

How TfR2 fits into iron metabolism has yet to be clearly defined. There is evidence that TfR2 acts as a liver sensor for circulating iron. It may have a significant role in HAMP expression. HAMP has a limited role in the liver while TfR2 appears to have an important role. HAMP mutations may cause juvenile hemochromatosis. This close linking of HAMP and TfR2 may in part explain why TfR2 hemochromatosis is more severe than hemochromatosis type 1.

The cases described so far suggest that TfR2 hemochromatosis or hemochromatosis type 3 is intermediate in severity between hemochromatosis type 1 or HFE related hemochromatosis and hemochromatosis type 2 or juvenile hemochromatosis. The onset of TfR2 hemochromatosis is more rapid than HFE related hemochromatosis. Age at diagnosis of hemochromatosis type 3 is significantly lower than for hemochromatosis type 1. Cases are frequently detected before the age of 30 years. There is a more equal sex ratio in cases of hemochromatosis type 3 than hemochromatosis type 1. Enough cases have probably not been described to decide if the sex ratio is equal in hemochromatosis type 3. While not as severe as juvenile hemochromatosis, hemochromatosis type 3 may present with hypogonadism. Other presentations recorded have been arthralgia, skin pigmentation, diabetes, heart failure and cirrhosis.

Despite the description of young patients with TfR2 hemochromatosis the disorder is different and distinct from juvenile hemochromatosis. The level of iron loading is not as high and the disorder is not as rapidly progressive as juvenile hemochromatosis.

There is a description of an Italian brother and sister with compound heterozygosity for C282Y/H63D and two copies of the TfR2 mutation Q137X. These siblings presented with a disorder similar to juvenile hemochromatosis.

Reference Books

Featured hemochromatosis Books at Amazon:

  • The Iron Disorders Institute Guide to Hemochromatosis
  • The Hemochromatosis Cookbook: Recipes and Meals for Reducing the Absorption of Iron in Your Diet
  • Living with Hemochromatosis
  • The Official Patient’s Sourcebook on Hemochromatosis
  • The Bronze Killer : New Edition
  • Exposing the Hidden Dangers of Iron: What Every Medical Professional Should Know About the Impact of Iron on the Disease Process
  • 21st Century Ultimate Medical Guide to Hemochromatosis – Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set)
  • Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment
  • Cooking With Less Iron: Easy-To-Prepare, Reasonably Priced Meals That Reduce the Amount of Iron in Your Diet

The Iron Disorders Institute Guide to Hemochromatosis

Book 1More than one million Americans suffer from Hemochromatosis, and most have to suffer through misdiagnoses and multiple doctor visits before finding the right treatment. If left untreated, Hemochromatosis can lead to heart attack, diabetes, cirrhosis, or cancer. Written by top medical researchers and experts, this comprehensive and reliable guide dispels the myths, explains the basic science behind the disease, and provides clues for diagnosis. It also includes inspiring case studies, treatment options, common questions, advocacy resources, and more. The number-one bestselling and most comprehensive guide, now updated with the latest scientific research The popular first edition has net sales of more than 11,000 copies; second edition is updated with the latest research More than one million Americans suffer from classic Hemochromatosis The CDC estimates people with Hemochromatosis are misdiagnosed 67% of the time and see an average of three doctors before a successful diagnosis

  • ISBN13: 9781402229435
  • Condition: NEW
  • Notes: Brand New from Publisher. No Remainder Mark.

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The Iron Disorders Institute Guide to Hemochromatosis Reviews

Review by kay cash:
Book 2The Iron Disorders Institute “Guide to Hemochromatosis” is a cogent book. The cover gets ones attention immediately, as it lists the symptoms on the cover. When my daddy died on July 4, 2000, I had never heard of Hemochromatosis, I am 57. He was diagnosed, too late, on July 1, 2000. After a zillion hours of searching the Internet about Hemochromatosis, I came away very angry about this “most common genetic disorder, because it is basically unknown by the layman and underdiagnosed by the medical profession, 1/250 have it and don’t know it, and 1/10 carry the gene,” per the CDC. (Many professionals still call it a “rare old man’s disease.”) Excuse me, but women have Hemochromatosis also. All that was needed was for my daddy to have had an early diagnosis, and give blood to reduce his iron level. This book is the most comprehensive and up-to-date information that the layman can read about Hemochromatosis. And the layman had better read it, because their doctors don’t know about its prevelence, and many don’t know to test for it. Instead the doctors continue to “well-meaningly” treat the patient’s symptoms. Simple blood tests that are described in the book, can diagnose Hemochromatosis. The individual must arm themselves with this book’s information and help educate their doctor. In fact, I have bought “Guide to Hemochromatosis” for a few doctors.
Review by Cheryl Mellan:
Book 2I am absolutely delighted with the Iron Disorders Institute “Guide to Hemochromatosis”!It has been three years since our family first heard the word “hemochromatosis”,  and in that time I have searched public and hospital libraries as well as the Internet in an attempt to find factual, non-partisan, current information; comprehendible by a layperson. I have sifted through clinical information beyond my level of understanding, as well as reams of half-truths, non-truths and sheer conjecture. What an education, at such an affordable price! I sincerelyappreciate the fact that the Iron DisorderS Institute has offered the knowledge that there are MANY disorders of iron metabolism,
not ONLY the one that genetically affects our family. They have offered education in the form of charts, diet and nutritional information; COMPLETE understandable clinical information.The CDC tells us “Approximately one of every 200 to 400 people is affected, while one in 10 is a carrier making this one of the most common of the known genetic disorders in the United States”. Sadly, it is one of the most MISSED diagnoses. With educational materials like this book offered by experts in the field, I feel hope and confidence that my husband will successfully deal with his diagnosis; our daughters will never experience what their dad has because of their KNOWLEDGE; and for our grandchildren, iron overload will be something they deal with through lifestyle choices and yearly monitoring – it will never hurt them. Perhaps most important, what a gift to an unsuspecting public, so many of whom carry this genetic mutation, and have yet to find that illusive, lifesaving diagnosis!My most sincere thanks!
Cheryl Mellan,

The Hemochromatosis Cookbook: Recipes and Meals for Reducing the Absorption of Iron in Your Diet

Book 3Hemochromatosis is one of modern medicine’s greatest oversights. An inherited metabolic iron disorder, it is most common in people of Northern European descent and most prominent in North America among the Scotch-Irish. For people with metabolic iron disorders, controlling the intake of iron contributes to wellness and the prevention of such chronic diseases as heart disease, diabetes, arthritis, liver disease, impotence, and depression. The Hemochromatosis Cookbook is written specifically for those who suffer from such iron disorders. It has chapters on all of the traditional categories found in most cookbooks: appetizers, salads, fruits and vegetables, main courses and casseroles, breads and muffins, and desserts. In addition, The Hemochromatosis Cookbook is characterized by the following: Easy-to-prepare, reasonably priced recipes that impede the body’s absorption of iron Food values and tips suggesting substitutions for reduced fat, sodium, and sugar Helpful menu planning for busy schedules, cooking for company, or cooking for two Diet plans for a typical week, including meals that can be prepared ahead of time and frozen A shopping checklist with reminders about iron content A chart showing the iron contents of common foods and vitamin supplements A general explanation of iron imbalances, such as hereditary hemochromatosis, acquired iron overload, and anemia

  • ISBN13: 9781581826487
  • Condition: NEW
  • Notes: Brand New from Publisher. No Remainder Mark.

Rating:  (out of 6 reviews)

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The Hemochromatosis Cookbook: Recipes and Meals for Reducing the Absorption of Iron in Your Diet Reviews

Review by A. M. Murphy:
Book 14I bought this book for my daughter’s boyfriend that was diagnosed with hemochromotosis quite a few years back. He along with my daughter are thrilled with the book (he’s the cook). In the first part of the book there is a deep enough explanation of the disorder that is written in layman’s terms.When it first arrived, I flipped through and was quite surprised at how many recipes are in it and was amazed at how many recipes called for tea.It seems to have opened up a new world for him. He eats well, sticks to the diet and has been exercising. The last time I saw him he looked like he was in tip-top shape. Of course he still goes for his blood-letting sessions, but he has also taken charge of his diet and overall health.

I highly recommend this book to anyone that has this disorder or has a loved one that does. Great gift item!

Review by Rusty:
Book 14I would have liked to see the tuna salad recipe on page 109. Page 109 has a duplicate of the potato salad recipe on page 108. I wrote the publisher and got another copy of potato salad. Overall, the information is helpful and the recipes a good mixture of easy and more complicated. The nutrition breakdown for each one is very useful.

Living with Hemochromatosis

One of the most common genetic disorders in America is also one of the most frequently misdiagnosed. But anyone who has just learned they have hemochromatosis will have lots of questions: How did I get it? Can I pass it to my children? How can I avoid organ damage? The answers are in Living with Hemochromatosis by Dr. Gregory T. Everson and Hedy Weinberg. Over 30 million people in the United States carry the gene for hemochromatosis, and almost 2 million have developed the condition. Hemochromatosis, also known as “iron overload” or “bronze diabetes,” causes the body to retain much more iron than it should. Because it is often not diagnosed until the patient is over 40 years old, the long-term iron buildup can damage not only cells and tissues, but also larger organs including the heart and liver. But there is hope. Living with Hemochromatosis guides patients through the whole spectrum of this condition, from early to delayed diagnosis, and answers their questions. It contains valuable information about recognizing the signs and symptoms of hemochromatosisÐand why it is frequently misdiagnosed. Living with Hemochromatosis also offers advice about genetic testing, and how to interpret the results. There is up-to-date information about treatment options, including phlebotomy, liver transplants, and new areas of research. The authors provide patients and their families with guidance on coping with the physical, emotional, and financial issues, as well as nutritional recommendations and much more. 25 b/w photos.

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Living with Hemochromatosis Reviews

Review by Kathryn E. Dunklebarger:
Book 4On page 34, second paragraph, the author states unequivically, that two mutations of H63D do not cause HH. The author is way behind the times. My father was genetically tested in 1999 for mutations that cause HH. He had been diagnosed with HH in 1998. His results showed that he had two mutations of H63D. In case anyone questions the results, the tests were done at Kimball Genetics in Denver, Colorado (800-320-1807). The genetics counselor who spoke with my father about his results said that a year earlier (1998), his diagnosis of HH would have been thrown out because it was thought that you could only get HH from the C282Y mutation. In the last five years, genetics research has discovered more mutations that may cause or affect iron overload. The Iron Disorders Institute’s book, Guide to Hemochromatosis, speaks about H63D causing hemochromatosis, and the copyright on that book is 2001. The author of this book is inexcusably behind the times. He is at the University of Colorado, yet Kimball Genetics in Denver, Colorado, had information five years ago that disproves what he put in his book. The Iron Disorders Institute had information two years before this book was published that disproves what he put in his book. Readers beware!! Please research what you read in this book!
Review by Deborah MacGillivray:
Book 4I was diagnosed with HHC, laughingly called the Celtic Curse because it can strike people of Scottish and Irish ancestry, there was not a lot of information out there about it. One in four people can carry the gene that causes the body to store too much iron in the deep muscle tissue, kidneys, liver and heart. It can be fatal if not caught. This book helps those find a way to live with this problem.When I learnt I suffered from this, I had not heard of it, no one I knew had it. However, within in the last five years, many people I know are aware of a friend or family member that now has it. It often mimics many other health problems, so it’s good to get early treatment and have books such as this one that help you manage your lifestyle.

The Official Patient’s Sourcebook on Hemochromatosis

Book 5This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to hemochromatosis (also Bronze Diabetes; Cirrhosis, congenital pigmentary; Familial Hemochromatosis; Hemochromatosis Syndrome; Hemosiderosis; Iron Overload Disease), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on hemochromatosis. Given patients’ increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms.

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The Official Patient’s Sourcebook on Hemochromatosis Reviews

Review by Rosemary Cloak:
Book 6WOW! sooo much info in one book! Well worth the money. Some info is a little dated, but if you call the organizations, they’ll send you updated info. User friendly. Not only used for hemochromatosis. Listings for different medical conditions also found. Good for all levels of knowledge. **** book!
Review by Trud1:
Book 6Its about time there that a technical book about Hemochromatosis was available. I found that this book was both scientific and extremely readable. This is by far the best text i have read on the topic.

The Bronze Killer : New Edition

Book 7Hemochromatosis — not too many people know the definition of the word or realize just how deadly a disease it can be. Marie Warder found out first hand when her husband became sick. For six years, she watched as his eyesight deteriorated, his personality changed and he grew sicker. Finally, a doctor diagnosed the problem: an overload of iron in his body. Luckily, it was caught in time and he was bled a gallon of blood per month to save his life. In The Bronze Killer, Warder provides much needed information about this common enemy, from recognizing its symptoms to stressing the importance of early detection and treatment. Recommended by physicians in many hospitals and also includes a layman’s reference on the disease, Iron…The Other Side of the Story!

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The Bronze Killer : New Edition Reviews

Review by john f (jack) connor:
Book 8Marie Warder in her outstanding book has done a great service to readers in pointing out the damaging effects of hemochromatosis. As one who has the condition, I found her book to be accurate, informative and inspirational. In Marie’s quest for awareness to this often mis-understood condition, she has done a great service to not only the medical community but for all who seek to know more about their health. An extra added dimension to the book is the inspiring way Marie has fought against immense odds to bring awareness of hemochromatosis to countless number of people. I highly recommend this book. I also thank and applaud Marie Warder for her courage in her heroic efforts in fighting this disease and for writing her book–the story that had to be told.
Book 8This book is about the killer disease Hemochromatosis (HH) and should be compulsory reading, not only for medical practitioners, but also for sufferers, their immediate relatives, their carers, those interested in hereditary disorders and last but certainly not least by those relatives of sufferers who, for whatever reason, have chosen not to be tested. It is this final group who may owe most to this book – their own lives!To the reader, it becomes so clear that this hereditary disorder and the deadly diseases it can spawn thrive on a camouflage of ignorance.Reading the book set me thinking that every year millions are being spent by the Medical Authorities in the treatment of diseases. Many of these diseases are actually the end result of hemochromatosis which renders the human body incapable of ridding itself of excess iron (“The Bronze Killer”) and thus leads to the onset of so many potentially fatal illnesses. It follows that investment in screening for HH should literally save the Medical Authorities substantial sums, not to mention saving the patients and their relatives from so much suffering!The preface to the book contains the following citations:”Thousands of families around the world have already found this book to be a valuable resource. More than just the personal account of a family who have suffered through the ravages of this terrible disease, it has been a source of information, encouragement and enlightenment to many.””Through Marie’s research and most noted book “The Bronze Killer”, she has educated doctors and the general public about the disease. As a result, hemochromatosis is now recognised as Canada’s most common genetic disorder, and routine blood tests for the disease may soon become standard diagnostic procedure.”Having obtained a copy of this book (difficult in the UK), I have found this the most compulsive read I have ever encountered. I could not put the book down and read it from cover to cover!.It is clear that, even today, this hereditary disorder remains shrouded in mystery, even in the so called “developed world”.The new (2000) edition of this book is written in three sections; the first tells of the struggle of the author (who first coined the phrase “The Bronze Killer”) and of her husband Tom who suffered the full effects of HH both before and after he was diagnosed. This part also tells of Marie’s struggle for recognition of HH and the setting up of the Hemochromatosis Societies in Canada , South Africa and subsequently the International Association of Societies.In the second part the editor brings forward the developments of the fight from 1988 to October 1999 and in the third part reproduces a booklet written by Marie and entitled “IRON The other side of the story!”In my view this final document is the definitive layman’s guide to “Hemochromatosis – The insidious killer”.It is said that “knowledge is power”, but in the case of hemochromatosis, it could be said that “knowledge is life!”If you are a medical practitioner, if you have HH, if you are related to someone who has HH or if you are interested in hereditary disorders, this book is for you. Knowledge and awareness gained from this book may literally save lives!David of Hertfordshire, UKNotes: 1. Quotes from the book are with kind permission of the author Marie Warder. 2. Hemochromatosis is spelt Haemochromatosis in the UK, Australia and South Africa and is referred to as GH not HH in the UK.The Bronze Killer – New Edition 2000 Author: Marie Warder Publisher: Imperani Publishers Box 82, Delta, British Columbia. Canada ISBN 0968735800.

Exposing the Hidden Dangers of Iron: What Every Medical Professional Should Know About the Impact of Iron on the Disease Process

Book 9Iron is one of the most frequently purchased over-the-counter supplements, second only to vitamin C and calcium. The danger is that, once absorbed, iron can only be excreted in minute amounts of less than one milligram a day (or by heavy blood loss), and excess iron collects in a person’s vital organs, thus, setting the disease process under way. As organs literally rust away, patients can experience early death by heart attack, arthritis, liver, pancreatic and colon cancer, increased infections, cirrhosis, diabetes, neurological problems, loss of hearing, tinnitus, depression, impotence, and infertility. Scientists have now discovered a connection to iron impropriety and Alzheimer’s, early onset Parkinson’s, Huntington’s, attention deficit disorder, and epilepsy. Exposing the Hidden Dangers of Iron is an excellent introduction for medical professionals to the intricacies of iron in the various body systems. Containing a practical guide to diagnosis, it also includes such subjects as the treatment and management of iron-loading conditions, excellent reference charts, a large glossary of terms, additional resources, contact and treatment centers, and a complete bibliography. Cutting edge scientific findings are summarized, complete with endnotes and references, about the devastation of excess iron on the liver, pancreas, gallbladder, spleen, adrenals, kidneys, bone marrow, arteries, heart, pituitary, joints, lungs, hearing, skin, vision, and the brain. Patients with iron-related disease, especially excess body iron, are often dismissed as hypochondriacs. Therefore, the book includes helpful information for the psychological and social implications of iron-related disease.

  • ISBN13: 9781581823363
  • Condition: NEW
  • Notes: Brand New from Publisher. No Remainder Mark.

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Exposing the Hidden Dangers of Iron: What Every Medical Professional Should Know About the Impact of Iron on the Disease Process Reviews

Review by Cheryl Mellan:
I am so very pleased to recommend this book. The Iron Disorders Institute – and Dr. Weinberg, have “done it again”. While the book is geared towards medical professionals, I find it quite understandable as a layperson whose family is affected by hemochromatosis/iron overload. “Exposing The Hidden Dangers of Iron” takes up where “Guide to Hemochromatosis” lets off.Especially of interest to me is the in-depth education on how iron specifically effects each system of the body. The extensive information given on diagnosis and treatment is invaluable. The graphics are incredible.Dr. Weinberg is a leading expert in infectious disease and cancer. He is well known for his work which focuses on prevention of chronic disease by reducing iron levels by reducing intake of iron in diet and discontinuing contributive factors such as tobacco use and alcohol. His more than fifty years work in the field of iron’s relationship to cancer has earned him prestige and recognition worldwide. He is a pioneer in the field of iron studies, and has provided us with more than 350 articles and books devoted to iron. I have had the honor of hearing Dr. Weinberg speak in person numerous times, and have never failed to walk away richer for the experience. My expectations have not been disappointed with this excellent publication.

Review by Millicent Wodner:
This timely exposure of a truly hidden health hazzard is well written and can be clearly understood by people who are not medical professionals. It is a common sense guide on how to handle this problem of iron overload and most important how to prevent the problem from developing. Other books tend to be too technical or in some cases not detailed enough in their investigative coverage. This book is just right in terms of giving enough clear coverage.

21st Century Ultimate Medical Guide to Hemochromatosis – Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set)

Book 10This up-to-date and comprehensive set of two CD-ROM discs provides a superb collection of official Federal government documents on the subject of hemochromatosis. Hemochromatosis is an inherited disease in which too much iron builds up in your body. It is one of the most common genetic diseases in the United States. Iron is a mineral found in many foods. Your body normally absorbs about 10 percent of the iron in the food you eat. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail. For patients, practical information is provided in clearly written patient education documents. For medical professionals, doctor reference tools and texts have detailed technical information and clinical background material. There is no other reference that is as fast, convenient, and portable – everything you need to know, from the federal sources you trust. This thoroughly researched collection presents vital information from many authoritative sources: Food and Drug Administration (FDA), Centers for Disease Control (CDC), National Institutes of Health (NIH) and the relevant institute for this disease, and others. In addition to the comprehensive disease-specific coverage, this disc set also includes our Medical Encyclopedia, a .95 value! The Encyclopedia presents a collection of official documents about a wide range of medical topics, diseases, illnesses, health and wellness. There is vital information from the National Institutes of Health (NIH), the Centers for Disease Control (CDC), National Cancer Institute, and more. Topics covered include: major diseases, including cancer, heart and vascular disease, stroke, blood diseases and disorders, lung diseases, and neurological disorders

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Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment

Book 11Once considered a rare condition, hemochromatosis is now acknowledged as one of the commonest inherited disorders, affecting one in two hundred people of Western Caucasian descent and in the U.S. alone, over one million people. This is the most comprehensive clinical reference yet on hemochromatosis. The international team of 94 authors from twelve countries includes specialists in internal medicine, hematology, hepatology, genetics, biochemistry, and molecular biology. In 57 in-depth chapters they cover all aspects of pathophysiology, epidemiology, diagnosis and treatment. The text thoroughly explains the latest developments in the genetics of the disorder, including sections on screening, diagnostic techniques, and clinical complications. In addition, chapters consider social and ethical issues. With over 200 illustrations–including 40 color plates–this is today’s definitive resource for all clinicians involved in the management of hemochromatosis, and for scientists interested in iron metabolism and iron overload.

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Cooking With Less Iron: Easy-To-Prepare, Reasonably Priced Meals That Reduce the Amount of Iron in Your Diet

Book 12Hemochromatosis is one of modern medicine’s greatest oversights. An inherited metabolic iron disorder, it is most common in people of northern European descent and most prominent among Scotch-Irish. For people with metabolic iron disorders, controlling one’s intake of iron contributes to wellness and the prevention of such chronic diseases as heart disease, diabetes, arthritis, liver disease, impotence, and depression. Cooking With Less Iron is designed specifically for those who suffer from such iron disorders. It has chapters on appetizers, salads, fruits and vegetables, main courses (including casseroles), breads and muffins, and desserts.

Rating:  (out of 4 reviews)

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Cooking With Less Iron: Easy-To-Prepare, Reasonably Priced Meals That Reduce the Amount of Iron in Your Diet Reviews

Review by Cheryl Mellan:
Book 13The Iron Disorders Institute has served up a heaping helping of EXCELLENCE with “Cooking With Less Iron”!Despite popular opinion that “diet does not count” in controlling iron, I’ve long been mindful of my Hemochromatosis husband’s diet. How could it not count? If you want to lose weight, you monitor fats and calories. If you’re a diabetic, you monitor sugars and carbohydrates. If you’re a heart patient, you monitor fats and cholesterol. If you happen to have Iron Overload……YOU MONITOR IRON!Once again, the Iron Disorders Institute has reigned with a cool head and educational approach. “Iron is an essential nutrient, human beings could not survive without it. We can enjoy the BEST of health when all nutrients are in balance and adequate amounts are available for normal body function without creating harmful excesses”.What an education the book offers with regard to metabolism, iron absorption and diet! There are so many things, even a “true believer” like myself did not know (nor had I thought of)! Marinating flank steak in a mixture that includes coffee??
Boil pasta in water that contains brewed tea?? Far beyond the “basics” I’ve learned so many “tricks” that allows my husband a terrific, tasty menu, containing the iron he needs to remain healthy, and excluding excess iron to add to his stores.I’ve tried many recipes before offering an opinion, and all have been absolutely wonderful. Anything BUT bland and boring, and I especially appreciate the graphics for each and every recipe that tell me exactly which ingredients are substances that inhibit the absorption of non-heme iron. I find myself thinking of just that educational tool while preparing other traditional family recipes! I am learning!!Hemochromatosis is forever, as are those maintenance phlebotomies
to regulate stored iron. This is exactly the kind of tool that can help us extend the period between needed extractions! Thank you so much IDI, you did it again!! (More please!)
Review by David Garrison:
Book 13I have Hemochromatosis and I was unable to enjoy many foods because of the disorder, now because of this book, I can cook quality food, that tastes good and is healthy for my body. Iron overload is no fun, and from my personal opinion it seems to be Cheryl Garrison and Iron Disorders Institute that have given the best advice. Thanks for the advice.