Tags

Type your tag names separated by a space and hit enter

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.
Braz J Med Biol Res. 2002 Mar; 35(3):329-35.BJ

Abstract

The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72) years) with HH. Eight patients (53%) were homozygous and one (7%) was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2) or homozygous (N = 1) for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

Authors+Show Affiliations

Hospital Português de Salvador, Salvador, BA, Brasil. plbbr@uol.com.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

11887210

Citation

Bittencourt, P L., et al. "Analysis of HLA-A Antigens and C282Y and H63D Mutations of the HFE Gene in Brazilian Patients With Hemochromatosis." Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas, vol. 35, no. 3, 2002, pp. 329-35.
Bittencourt PL, Palácios SA, Couto CA, et al. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Braz J Med Biol Res. 2002;35(3):329-35.
Bittencourt, P. L., Palácios, S. A., Couto, C. A., Cançado, E. L., Carrilho, F. J., Laudanna, A. A., Kalil, J., Gayotto, L. C., & Goldberg, A. C. (2002). Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas, 35(3), 329-35.
Bittencourt PL, et al. Analysis of HLA-A Antigens and C282Y and H63D Mutations of the HFE Gene in Brazilian Patients With Hemochromatosis. Braz J Med Biol Res. 2002;35(3):329-35. PubMed PMID: 11887210.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. AU - Bittencourt,P L, AU - Palácios,S A, AU - Couto,C A, AU - Cançado,E L R, AU - Carrilho,F J, AU - Laudanna,A A, AU - Kalil,J, AU - Gayotto,L C C, AU - Goldberg,A C, PY - 2002/3/12/pubmed PY - 2002/5/10/medline PY - 2002/3/12/entrez SP - 329 EP - 35 JF - Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas JO - Braz J Med Biol Res VL - 35 IS - 3 N2 - The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72) years) with HH. Eight patients (53%) were homozygous and one (7%) was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2) or homozygous (N = 1) for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil. SN - 0100-879X UR - https://www.unboundmedicine.com/medline/citation/11887210/Analysis_of_HLA_A_antigens_and_C282Y_and_H63D_mutations_of_the_HFE_gene_in_Brazilian_patients_with_hemochromatosis_ L2 - https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000300007&lng=en&nrm=iso&tlng=en DB - PRIME DP - Unbound Medicine ER -