hereditary hemochromatosis


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hereditary hemochromatosis

chronic liver disease caused by excessive intestinal absorption of elemental iron; characterized by elevated serum iron saturation, transferrin, and ferritin levels; improves with phlebotomy. Affected patients at increased risk of developing cirrhosis, liver cancer, and liver failure. Associated clinical manifestations include diabetes mellitus, cardiomyopathy, bronze skin, and pseudogout. In whites, 80% have an HFE gene mutation (C282Y homozygote or C282Y/C63D compound heterozygote) transmitted in an autosomal recessive fashion.

hereditary hemochromatosis

an autosomal-recessive disorder of metabolism that involves the deposition of iron-containing pigments in the tissues. Iron accumulation is lifelong, with symptoms that include joint or abdominal pain, weakness, and fatigue appearing usually in the fifth or sixth decades of life. If untreated, the disorder may lead to bronzing of the skin, arthritis, diabetes, cirrhosis, or heart disease. It typically affects men more often than women. See also hemochromatosis.
References in periodicals archive ?
Hereditary hemochromatosis, alpha-1-antitrypsin deficiency and Wilson's disease.
There are no clear data establishing if H63D mutation leads to iron overload and to the phenotypic manifestations of hemochromatosis, but some studies have suggested that the H63D mutation is associated with a milder form of hereditary hemochromatosis (15-17).
Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease.
Screening volunteers using free laboratory tests was found to be an effective way to detect undiagnosed hereditary hemochromatosis (HH) in a population of adults in a medically underserved region of western North Carolina.
Hagop Youssoufian noted, mutations of HFE, the gene for hereditary hemochromatosis, are indeed common among whites.
Identification of the gene mutated in human hereditary hemochromatosis provided the first insights to emerge in several decades into regulation of intestinal iron transport, and heralded the identification of other molecular participants in the process.
The recently developed genetic test for hereditary hemochromatosis may not be useful for African Americans, since the common mutation, C282Y in the HFE gene, is rare in this group.
Individuals with hereditary hemochromatosis are at increased risk for liver cancer (1).
However, population screening for hereditary hemochromatosis, the example Dr.
Thus, they are at lower risk for developing the chronic iron deposition seen in patients with hereditary hemochromatosis (Adamson et al.
One in 250 to 300 people has hereditary hemochromatosis, a genetic condition in which too much iron is stored and can result in greater health risks.
Bio-Rad Laboratories acquired the hereditary hemochromatosis portfolio from the intellectual property of Progenitor, believing it will add "significantly to its technology base for genetic disorders testing".

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