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.
References in periodicals archive ?
The incomplete penetrance of homozygous C282Y indicates that additional environmental or genetic factors buffer the disruptive influence of the genotype (also known as "canalization" or "developmental compensation") contributing to the manifestation of hereditary hemochromatosis in affected individuals (32), which could bias the instrumental variable estimates (8).
Hereditary hemochromatosis genetic test results (918 orders from January 6, 2015, to January 4, 2016).
Hubscher et al., "Patient and graft survival after liver transplantation for hereditary hemochromatosis: Implications for pathogenesis," Hepatology, vol.
Hereditary hemochromatosis, alpha-1-antitrypsin deficiency and Wilson's disease.
Tomatsu et al., "Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis," Proceedings of the National Academy of Sciences of the United States of America, vol.
Constantine et al., "The Natural History of Serum Iron Indices for HFE C282Y Homozygosity Associated With Hereditary Hemochromatosis," Gastroenterology, vol.
Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians.
Hereditary hemochromatosis can be confused with other arthropathies, especially those that affect the hand joints.
Wurster et al., "A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis," Hepatology, vol.
Another study showed that treatment of patients with hereditary hemochromatosis with PPIs led to significant reduction in the volume of blood removed annually (14).
Hereditary hemochromatosis: Insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
Disorders of iron metabolism could lead to iron overload, mainly causing the rare disease hereditary hemochromatosis, or on the other hand, iron deficiency may cause anemia.

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