Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain.

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منابع مشابه

Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina.

Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from southern European countries. However, no HFE mutation prevalence data have been provided for the population of Bosnia-Herzegovina so far. Theref...

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Frequency of C282Y and H63D Mutations of HFE Gene and Their Correlation with Iron Status in Iranian Beta-Thalassemia Major Patients

Background: Co-inheritance of hemochromatosis (HFE) gene mutations may play an essential role in the pathogenesis of iron overload in beta-thalassemia major (BTM) patients. The present study aimed to investigate the prevalence of HFE C282Y and H63D mutations in BTM patients and their correlation with some demographic data and biochemical iron markers. Materials and Methods: The study populat...

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Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

CONTEXT Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening. OBJECTIVE To estimate the prevalence of the HFE mutations C282Y and H63D in the US population. DESIGN Cross-sectional population-based study of samples in the DNA bank from phase 2 of the Third Nation...

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Association of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City.

BACKGROUND AND OBJECTIVE Iron overload has been associated with HFE mutations (C282Y and H63D). We investigated the association between these mutations and high serum ferritin in a sample of healthy adult men. DESIGN AND METHODS We enrolled unrelated blood donors from three hospitals in Mexico City in a crosssectional study. Serum ferritin (SF) was determined to define iron overload, and HFE ...

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Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.

The frequencies of C282Y and H63D mutations of the HFE gene vary between different populations. A previous study showed an unexpectedly high H63D frequency in Chuetas (a population of Jewish descent). The present study addressed the question of the distribution of these mutations in Jewish populations from different origins and studied the possible causes of the high H63D frequency in Chuetas. ...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1998

ISSN: 1468-6244

DOI: 10.1136/jmg.35.8.701