Genetic Disorder - Hereditary Hemochromatosis - First in a series on genetic disorders affecting different segments of the population)


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  • Genetic Disorder - Hereditary Hemochromatosis
    (First in a series on genetic disorders affecting
    different segments of the population)

    What is it and why should you be aware of it?
    Blood Donations Acceptable according to NIH
    GoAskAlice at Columbia University
    Clinical testing review of HH 2001
    Frequently Asked Questions
    Some of the NGOs Involved
    Other References of Interest

    GO TO: American Hemochromatosis Society, Inc. (AHS)TM       to top American Hemochromatosis Society
    Hereditary hemochromatosis - disorder in which the body stores excess iron which causes damage to organs if untreated. CDC rated as most common genetic disease in US. Found in the European population (0.4%) and Americans (0.5%) mainly Northern European descent. Estimated that as many as 2 million Americans unknowlingly have the clinical iron overdose disease (double gene mutation), with another 35 million being silent "carriers" of the single gene mutation. Diagnosis and treatment, if detected early, is simple.

    Brief Description
    Hereditary hemochromatosis (HH), also known as iron overload disease, iron storage disease, "genetic iron poisoning", and the "Celtic Curse", is the most common genetic disease in the USA according to the Centers for Disease Control and Prevention (CDC).

    Once thought to be rare, we now know that it is the diagnosis that is rare, not the disease because routine screenings performed by doctors do not include tests for hemochromatosis. Therefore, most diagnoses are either missed, or made at an advanced stage. Recent research shows that 1 in 8 Americans carry the single gene mutation for hemochromatosis and 1 in 100 to 1-200 Americans have the high risk double gene mutation which gives them the full blown disease. That's approximately 35 million Americans who are "silent carriers" of the condition and another 2 million who have clinical iron overload, known as hemochromatosis.

    It is estimated that 98% of those 2 million Americans are undiagnosed and have no idea that they have toxic levels of iron stored in vital body organs such as the heart, liver, pancreas, and joints. They are also unaware that their family members are also at risk for having the disease since it is "hereditary".

    Who are affected
    Affecting those of European ancestry, particularly those of Nordic and Celtic ancestry, hemochromatosis is easy to detect using a painless genetic DNA home test kit which shows the patient's genetic risk and genetic status for the disease, as well as the blood tests: serum iron, TIBC (total iron binding capacity), and serum ferritin. A percent of saturation greater than 40% and a serum ferritin greater than 150 ng/ml is highly suggestive of hereditary hemochromatosis. Genetic testing can confirm a diagnosis of HFE-associated hereditary hemochromatosis (genetic iron overload) or it can show that the patient is at risk in the future for developing it thereby giving the patient the opportunity to take preventive measures such as diet adjustment and blood donation. Once one person in a family has tested positive for the gene mutation for hemochromatosis, then all family members, from the youngest to the oldest, should have genetic screening.

    Treatment is simple and is identical to blood donation. Hemochromatosis can also be prevented in many cases by donating blood frequently throughout the patient's life. Because there is a prevention strategy for hemochromatosis, the public should be genetically tested to determine their risk for the disease.

    The American Hemochromatosis Society (AHS), a non-profit health organization, can provide educational materials and direct emotional support to those who have hemochromatosis and their family members and friends. Founded by Sandra Thomas, a "silent carrier" of the hemochromatosis gene mutation, the organization is dedicated to saving lives in memory of Sandra's mother, Josephine Bogie Thomas, who died of hemochromatosis on May 13, 1999.

    For further information: Visit the web site at:
    See 'Some of the Organizations Involved' below for contact information.

    NATIONAL INSTITUTES OF HEALTH - National Heart, Lung, and Blood Institute      to top
    Study Finds Hemochromatosis Patients' Blood is as Safe as Other Donated Blood
    Contact: NHLBI Communications Office (301) 496-4236

    Description of HEMOCHROMATOSIS by GoAskAlice of Columbia University      to top

    A recent review of the clinical testing in American Journal of Epidemiology 2001
    This HuGE Review was published in the American Journal of Epidemiology 2001; 154(3):193-206.      to top
    HFE Gene and Hereditary Hemochromatosis by E. H. Hanson1, G. Imperatore2, W. Burke3 March 12, 2001 (Updated August 24, 2001) (Abstracted by ed.)
    Prevalence The estimated frequency of the HFE genotype in the general population is shown in table 2; 27 studies were evaluated. A total of 6,203 samples from European countries revealed on average a C282Y homozygous and heterozygous prevalence of 0.4 percent and 9.2 percent, respectively. However, C282Y homozygosity has not been reported in the general population of Southern or Eastern Europe. The frequency of the C282Y heterozygosity is 1 to 3 percent in Southern and Eastern Europe and as high as 24.8 percent in Ireland. In North America (3,752 samples) these percentages were 0.5 percent (C282Y homozygous) and 9.0 percent (C282Y heterozygous). In the Asian, Indian subcontinent, African/Middle Eastern, and Australasian populations, C282Y homozygotes were not found and the frequency of C282Y heterozygosity was very low (range: 0 to 0.5 percent). C282Y/H63D compound and H63D homozygosity each accounted for 2 percent of the European general population and 2.5 percent and 2.1 percent in the American populations, respectively. The carrier frequency of the H63D mutation was 22 percent in Europe and 23 percent in North America.
    Symptoms Phenotypic expression of HHC, which is variable, appears to depend on a complex interplay of the severity of the genetic defect, age, sex, and such environmental influences as dietary iron, the extent of iron losses from other processes, and the presence of other diseases or toxins (e.g., alcohol) (32) . The rate of iron accumulation and the frequency and severity of clinical symptoms vary markedly; early complaints may include fatigue, weakness, joint pain, palpitations, and abdominal pain (33) . Because these symptoms are relatively nonspecific, HHC is often not diagnosed at this stage. The disease can ultimately lead to hyperpigmentation of the skin, arthritis, cirrhosis, diabetes mellitus, chronic abdominal pain, severe fatigue, hypopituitarism, hypogonadism, cardiomyopathy, primary liver cancer, or an increased risk of certain bacterial infections (34) . Most of these advanced complications are also common primary disorders, and iron overload can be missed at this stage unless looked for specifically. prevelance in population In populations of European descent, the prevalence estimates for C282Y homozygosity is 4 per 1,000 and for C282Y heterozygosity is 90 per 1,000 (table 2). The estimated U.S. population in November 1999 was 273,866,000, with 196,409,000 (71.7 percent) white persons (non-Hispanic) (72) . Using these figures, at least 1,095,464 white (non-Hispanic) persons are C282Y homozygous and another 24,647,940 are C282Y heterozygous carriers. This estimate of the potential HHC public health burden would be enlarged if other ethnic groups and other etiologies of primary and secondary iron overload disorders were included.

    Some of the NGOs Involved      to top

    American Hemochromatosis Society, Inc. (AHS)TM Email AHS at: or call their toll free information hotline: 1-888-655-IRON (4766). Or write: AHS, 4044 W. Lake Mary Blvd., #104, PMB 416, Lake Mary, Florida 32746-2012 U.S.A. (Due to the volume of mail, please allow four to six weeks for delivery)

    Iron Overload Diseases Association
    Hemochromatosis - Diagnosis, Treatment, and Maintenance
    Information is also available the old-fashioned way. Send a self-addressed envelope with two first-class stamps to:
    433 Westwind Drive
    North Palm Beach, FL 33408
    Please send a self addressed & stamped large business envelope for return mail.
    Telephones: (561)840-8512, (561)840-8513, (561)842-9881 (Fax)

    Related sites:      to top

    For a wealth of information on Genetic Diseases, Diagnoses, Tests, Support Groups, Different Levels information, go to: Human Genome Project Information

    Fatigue, weakness, muscle pain, depression. Chronic Fatigue Syndrome[CFS]-Fibromyalgia[FM] "These symptoms may be some of the first indications of too much iron..." Listing by Cindy Munn RN of articles and studies on hemochromatosis.

    Page approved by Sandra Thomas - American Hemochromatosis Society, Inc.

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