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|Health - Reuters - updated 5:48 PM ET May 4||
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Study Measures Frequency of Blood-Disorder Defect
NEW YORK (Reuters Health) - Gene analysis of a national population sample confirms previous estimates of the frequency of the gene defects linked to hereditary hemochromatosis, a common disorder that causes the body to absorb and store too much iron.
Hemochromatosis normally results from a genetic mutation. People born with two copies of the defective gene may develop the disease. Most cases of hereditary hemochromatosis in whites occur in people who have two copies of either the C282Y or H63D variations of the hemochromatosis gene.
Symptoms of the illness are often vague and can include fatigue, joint pain, loss of appetite and decreased sexual desire. Eventually, the build-up of excess iron can damage internal organs. But if the condition is detected early, treatment, which normally involves drawing small amounts of blood on a regular basis to lower iron levels, can prevent organ damage.
To get a better idea of how many people in the US have the hemochromatosis-linked mutations, a team led by Dr. Karen K. Steinberg of the Centers for Disease Control and Prevention (news - web sites) in Chamblee, Georgia, analyzed the genes of more than 5,000 people. The blood samples were collected from participants in a nationally representative health survey.
Steinberg and her colleagues report that 1 out of every 385 individuals in the study (0.26%) carried two copies of the C282Y mutation, the defect that causes most cases of the disorder in whites. This rate falls into the range of previous estimates, which varied from 1 in 200 to 1 in 500, the authors report in the May 2nd issue of The Journal of the American Medical Association (news - web sites).
About 5% of the sample had at least one copy of the C282Y mutation, and nearly 14% had a copy of the H63D defect, according to the report. The gene defects were most common in non-Hispanic whites and least common in non-Hispanic blacks. Estimates for Mexican Americans fell between the two other groups.
But the C282Y mutation was present in a lower percentage of Mexican Americans than expected based on previous studies, the report indicates.
Some experts have called for screening for the disorder, which can be detected with a simple blood test. But the usefulness of screening has been unproven since the odds that a person with two copies of the defective gene will eventually develop symptoms is uncertain.
The study ``represents the first national, population-based prevalence estimate, thereby adding an important piece of the puzzle needed for making policy decisions about screening,'' Steinberg and colleagues conclude.
SOURCE: The Journal of the American Medical Association 2001;285:2216-
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