Prevalence of C282Y and H63D mutations in the HFEgene in patients from São Paulo and Southern Brazil

ABSTRACT Hereditary hemochromatosis (HH) is an autosomal recessive disorder caused by mutations in the HFE gene; it is characterized by the risk of iron overload. C282Y and H63D are the most associated mutations in HH. This study aimed to determine the frequency of mutations in the south of Brazil a...

Full description

Bibliographic Details
Main Authors: Marcos E. Herkenhoff, Ana Kelly Pitlovanciv, Vanessa R. Remualdo
Format: Article
Language:English
Published: Sociedade Brasileira de Patologia Clínica 2016-02-01
Series:Jornal Brasileiro de Patologia e Medicina Laboratorial
Subjects:
Online Access:http://www.scielo.br/pdf/jbpml/v52n1/1676-2444-jbpml-20160003.pdf