Article
HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?
Blood cells, molecules & diseases - 15 Dec 2010
Santos Paulo C J L, Pereira Alexandre C, Cançado Rodolfo D, Schettert Isolmar T, Sobreira Tiago J P, Oliveira Paulo S L, Hirata Rosario D C, Hirata Mario H, Figueiredo Maria Stella, Chiattone Carlos S, Krieger Jose E, Guerra-Shinohara Elvira M
Abstract excerpt
Rare HFE variants have been shown to be associated with hereditary hemochromatosis (HH), an iron overload disease. The low frequency of the HFE p.C282Y mutation in HH-affected Brazilian patients may suggest that other HFE-related mutations may also be implicated in the pathogenesis of HH in this population. The main aim was to screen for new HFE mutations in Brazilian individuals with primary iron overload and to...
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