Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study
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چکیده
منابع مشابه
Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
Hemochromatosis comprises a group of inherited disorders resulting from mutations of genes involved in regulating iron metabolism. The multicenter, multi-ethnic Hemochromatosis and Iron Overload Screening (HEIRS) Study screened approximately 100,000 participants in the US and Canada, testing for HFE mutations, serum ferritin and transferrin saturation. As in other studies, HFE C282Y homozygosit...
متن کاملHFE C282Y homozygosity is associated with lower total and LDL cholesterol: the Hemochromatosis and Iron Overload Screening (HEIRS) Study
Background: Previous studies have suggested a positive association of coronary heart disease (CHD) risk and both serum ferritin concentrations and C282Y heterozygosity. Relationships between serum lipids, C282Y homozygosity and serum ferritin have not been well established. Methods and Results: The HEIRS Study screened 101,168 participants in primary care from 5 field centers in the US and Cana...
متن کاملIron-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...
متن کاملNontransfusional 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...
متن کاملIron-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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ژورنال
عنوان ژورنال: Hematology
سال: 2009
ISSN: 1520-4391,1520-4383
DOI: 10.1182/asheducation-2009.1.195