Recognition and Management of Hereditary Hemochromatosis -- American Family Physician
نویسنده
چکیده
www.aafp.org/afp AMERICAN FAMILY PHYSICIAN 853 Most physicians diagnose only a few cases of hereditary hemochromatosis in their practice because they do not routinely test for iron overload and because many patients with the disorder have no manifestations. It is estimated that the typical primary care physician encounters one patient with hereditary hemochromatosis every two weeks. Iron overload caused by hereditary hemochromatosis should be distinguished from overload secondary to other entities. Secondary iron overload should be suspected in patients with chronic anemia, multiple transfusions, prolonged iron supplementation, or chronic liver disease. In secondary iron overload, iron often accumulates in Kupffer cells rather than hepatocytes, as typically occurs in hereditary hemochromatosis. However, severe iron overload from hereditary hemochromatosis or secondary causes may be indistinguishable. Disorders associated with iron overload are listed in Table 1.
منابع مشابه
Hereditary hemochromatosis.
Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. End-organ damage or clinical manifestati...
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