ArticleSao Paulo medical journal = Revista paulista de medicina2006
Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload.
Article in Sao Paulo medical journal = Revista paulista de medicina, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 20 citations in OpenAlex.
- Comprehensive analysis ofWorld journal of hepatology · 2019Article
- Effects of Iron Overload on the Activity of Na,K-ATPase and Lipid Profile of the Human Erythrocyte Membrane.PloS one · 2015Article
- Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.Clinics (Sao Paulo, Brazil) · 2009Article
- Assessment of HFE mutations in patients with iron overload.Sao Paulo medical journal = Revista paulista de medicina · 2007Article
- Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population.Hematology, transfusion and cell therapyReview
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6 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
CONTEXT AND
objectiveHemochromatosis 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
settingProspective study, in Discipline of Hematology and Oncology, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo.
methodsWe 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).
resultsTwenty-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.
conclusionAnalysis of HFE gene mutations constitutes an important procedure in identifying patients with hereditary hemochromatosis, particularly for patients with iron overload.
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