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Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload.
Sao Paulo Med J. 2006 Mar 02; 124(2):55-60.SP

Abstract

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.

Authors+Show Affiliations

Department of Internal Medicine, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil. rdcan@uol.com.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16878186

Citation

Cançado, Rodolfo Delfini, et al. "Analysis of HFE Gene Mutations and HLA-A Alleles in Brazilian Patients With Iron Overload." Sao Paulo Medical Journal = Revista Paulista De Medicina, vol. 124, no. 2, 2006, pp. 55-60.
Cançado RD, Guglielmi AC, Vergueiro CS, et al. Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload. Sao Paulo Med J. 2006;124(2):55-60.
Cançado, R. D., Guglielmi, A. C., Vergueiro, C. S., Rolim, E. G., Figueiredo, M. S., & Chiattone, C. S. (2006). Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload. Sao Paulo Medical Journal = Revista Paulista De Medicina, 124(2), 55-60.
Cançado RD, et al. Analysis of HFE Gene Mutations and HLA-A Alleles in Brazilian Patients With Iron Overload. Sao Paulo Med J. 2006 Mar 2;124(2):55-60. PubMed PMID: 16878186.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload. AU - Cançado,Rodolfo Delfini, AU - Guglielmi,Aline Cristiane de Oliveira, AU - Vergueiro,Carmen Silvia Vieitas, AU - Rolim,Ernani Geraldo, AU - Figueiredo,Maria Stella, AU - Chiattone,Carlos Sérgio, PY - 2004/06/30/received PY - 2006/03/07/accepted PY - 2006/8/1/pubmed PY - 2007/4/14/medline PY - 2006/8/1/entrez SP - 55 EP - 60 JF - Sao Paulo medical journal = Revista paulista de medicina JO - Sao Paulo Med J VL - 124 IS - 2 N2 - 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. SN - 1516-3180 UR - https://www.unboundmedicine.com/medline/citation/16878186/Analysis_of_HFE_gene_mutations_and_HLA_A_alleles_in_Brazilian_patients_with_iron_overload_ L2 - https://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802006000200002&lng=en&nrm=iso&tlng=en DB - PRIME DP - Unbound Medicine ER -