Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis

Revista Brasileira de Hematologia e Hemoterapia

Alessandro C. S. Ferreira¹  Vanessa C. Oliveira¹  Fabíola A. Caxito¹  Karina B. Gomes¹  Amanda M. Castro¹  Victor C. Pardini¹ 

[1] ,Instituto Hermes Pardini Departamento de Genética Humana Belo Horizonte MG

关键词: Hemochromatosis;    genetic anomaly;    HFE mutation;    Hemocromatose hereditária;    anormalidade genética;    mutação HFE;   

DOI  :  10.1590/S1516-84842008000500010

来源: SciELO

【 摘 要 】

Classical hereditary hemochromatosis is a recessive autosomal disease related to a systemic iron overload that is frequently related to C282Y and H63D mutations in the HFE gene. In Brazil, reports on HFE gene mutation frequencies are rare, mainly in regards to a representative sample population. This study intended to determine the prevalence of C282Y and H63D mutations among individuals with clinical suspicion of hereditary hemochromatosis. A total of 1955 patients were studied with C282Y and H63D mutations being detected by the polymerase chain reaction technique followed by enzymatic restriction. The sample consisted of 76.6% men and 23.4% women. The highest percentage of analyzed individuals (56.9%) was concentrated in the 41 to 60-year-old age group. Although there were no genic or genotypic differences between genders, a higher number of over 60-year-old women was observed. The C282Y mutation was found as homozygous in 2.9% of the cases and as heterozygous in 10.1%, while the H63D was homozygous in 4.3% and heterozygous in 30.6%. The C282Y and H63D mutant allele frequencies were 0.079 and 0.196, respectively. The highest frequency was observed for H63D which was in genetic equilibrium. This work is important to determine the genetic profile of the population with hereditary hemochromatosis in Brazi.

【 授权许可】

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