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

Sao Paulo Medical Journal

Rodolfo Delfini Cançado²  Aline Cristiane De Oliveira Guglielmi¹  Carmen Silvia Vieitas Vergueiro²  Ernani Geraldo Rolim²  Maria Stella Figueiredo¹  Carlos Sérgio Chiattone² 

[1] ,Santa Casa de Misericórdia de São Paulo Faculdade de Ciências Médicas Department of Internal MedicineSão Paulo,Brazil

关键词: Ferritin;    Iron overload;    Hemochromatosis;    Iron metabolism disorders;    Inborn genetic diseases;    Ferritina;    Sobrecarga de ferro;    Hemocromatose;    Doenças do metabolismo do ferro;    Doenças genéticas inatas;   

DOI  :  10.1590/S1516-31802006000200002

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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