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.)
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.
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: firstname.lastname@example.org 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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