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. 2006 Mar 2;124(2):55-60.
doi: 10.1590/s1516-31802006000200002.

Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload

Rodolfo Delfini Cançado  1 , Aline Cristiane de Oliveira Guglielmi, Carmen Silvia Vieitas Vergueiro, Ernani Geraldo Rolim, Maria Stella Figueiredo, Carlos Sérgio Chiattone
Affiliations

Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload

Rodolfo Delfini Cançado et al. Sao Paulo Med J. .

Abstract
in English, Portuguese

Context and objective: Hemochromatosis is a common inherited disorder of iron metabolism and one of the most important causes of iron overload. The objective was to analyze the presence of C282Y, H63D and S65C mutations in the HFE gene and HLA-A alleles for a group of Brazilian patients with iron overload, and to correlate genotype with clinical and laboratory variables.

Design and setting: Prospective study, in Discipline of Hematology and Oncology, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo.

Methods: We studied 35 patients with iron overload seen at our outpatient unit between January 2001 and December 2003. Fasting levels of serum iron and ferritin, and total iron-binding capacity, were assayed using standard techniques. Determinations of C282Y, H63D and S65C mutations in the HFE gene and of HLA-A alleles were performed by polymerase chain reaction (PCR).

Results: Twenty-six out of 35 patients (74%) presented at least one of the HFE gene mutations analyzed. Among these, five (14%) were C282Y/C282Y, four (11%) C282Y/H63D, one (3%) H63D/H63D, six (17%) C282Y/WT and ten (29%) H63D/WT. No patients had the S65C mutation and nine (25%) did not present any of the three HFE mutations. Four out of five patients with C282Y/C282Y genotype (80%) and three out of four patients with C282Y/H63D genotype (75%) were HLA A*03.

Conclusion: Analysis of HFE gene mutations constitutes an important procedure in identifying patients with hereditary hemochromatosis, particularly for patients with iron overload.

CONTEXTO E OBJETIVO:: Hemocromatose é um distúrbio hereditário comum do metabolismo do ferro e uma das causas mais importantes de sobrecarga de ferro. O objetivo foi analisar a presença das mutações C282Y, H63D e S65C no gene HFE e dos alelos HLA-A em um grupo de pacientes brasileiros com sobrecarga de ferro e correlacionar o genótipo com variáveis clínicas e laboratoriais.

TIPO DE ESTUDO E LOCAL:: Estudo prospectivo, na Disciplina de Hematologia e Oncologia. Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo.

MÉTODOS:: Estudamos 35 pacientes com sobrecarga de ferro atendidos em nosso ambulatório entre janeiro de 2001 e dezembro de 2003. Ferro sérico, ferritina sérica e capacidade total de ligação de ferro foram determinados por técnicas convencionais. As mutações C282Y, H63D e S65C do gene HFE e a determinação dos alelos HLA-A foram realizadas por reação de polimerase em cadeia (PCR).

RESULTADOS:: Vinte e seis dos 35 pacientes (74%) apresentavam pelo menos uma das mutações analisadas do gene HFE. Entre esses, cinco (14%) com genótipo C282Y/C282Y, 4 (11%) C282Y/H63D, 1 (3%) H63D/H63D, 6 (17%) C282Y/WT e 10 (29%) H63D/WT. Não foi encontrado nenhum paciente com a mutação S65C e 9 (26%) pacientes não apresentavam nenhuma das três mutações do gene HFE. Quatro dos 5 pacientes com genótipo C282Y/C282Y (80%) e 3 dos 4 pacientes C282Y/H63D (75%) eram HLA A*03.

CONCLUSÃO:: Análise das mutações do gene HFE constitui um importante procedimento na identificação de pacientes com hemocromatose hereditária, particularmente em pacientes com sobrecarga de ferro.

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Conflict of interest: None

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References

    1. Andrews NC. Disorders of iron metabolism. N Engl J Med. 1999;341(26):1986–1995. - PubMed
    1. Pietrangelo A. Haemochromatosis. Gut. 2003;52(Suppl 2):ii23–ii30. - PMC - PubMed
    1. Piperno A. Classification and diagnosis of iron overload. Hae-matologica. 1998;83(5):447–455. - PubMed
    1. Powell LW. Hereditary hemochromatosis and iron overload diseases. J Gastroenterol Hepatol. 2002;17(Suppl: S):191–195. - PubMed
    1. Camaschella C, Piperno A. Hereditary hemochromatosis: recent advances in molecular genetics and clinical management. Haematologica. 1997;82(1):77–84. - PubMed

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