Kinetics of Iron Depletion in Hereditary Hemochromatosis

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Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis

Katrina J. Allen, M.D., Ph.D., Lyle C. Gurrin, Ph.D., Clare C. Constantine, Ph.D., Nicholas J. Osborne, Ph.D., Martin B. Delatycki, M.D., Ph.D., Amanda J. Nicoll, M.D., Ph.D., Christine E. McLaren, Ph.D., Melanie Bahlo, Ph.D., Amy E. Nisselle, B.Sc., Chris D. Vulpe, M.D., Ph.D., Gregory J. Anderson, Ph.D., Melissa C. Southey, Ph.D., Graham G. Giles, Ph.D., Dallas R. English, Ph.D., John L. Hopp...

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Nontransfusional iron overload in thalassemia. Association with hereditary hemochromatosis.

genes. Hemochromatosis is inherited as an autosomal recessive trait and The Cys282Tyr mutation was detected in only 1 of the 81 individis manifested by excessive absorption of dietary iron in homozygotes uals with thalassemia intermedia. The proband presented in 1975 at leading to complications of iron overload and premature death. In the age of 42 years with joint pains. Hepatomegaly was noted...

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Iron-overload-related disease in HFE hereditary hemochromatosis.

BACKGROUND Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation. Diseases related to iron overload develop in some C282Y homozygotes, but the extent of the risk is controversial. METHODS We assessed HFE mutations in 31,192 persons of northern European descent betwe...

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Hereditary hemochromatosis.

Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.

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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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ژورنال

عنوان ژورنال: Blood

سال: 2018

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood-2018-99-110457