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Titolo:
Genotype screening for hereditary hemochromatosis among voluntary blood donors in hungary
Autore:
Andrikovics, H; Kalmar, L; Bors, A; Fandl, B; Petri, I; Kalasz, L; Tordai, A;
Indirizzi:
Natl Inst Hematol & Immunol, Mol Biol Lab, H-1113 Budapest, Hungary Natl Inst Hematol & Immunol Budapest Hungary H-1113 13 Budapest, Hungary Reg Blood Transfus Serv, Szeged, Hungary Reg Blood Transfus Serv Szeged Hungary d Transfus Serv, Szeged, Hungary Natl Ctr Blood Transfus Serv, Budapest, Hungary Natl Ctr Blood Transfus Serv Budapest Hungary s Serv, Budapest, Hungary
Titolo Testata:
BLOOD CELLS MOLECULES AND DISEASES
fascicolo: 1, volume: 27, anno: 2001,
pagine: 334 - 341
SICI:
1079-9796(200101)27:1<334:GSFHHA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
HLA-H GENE; C282Y MUTATION; TRANSFERRIN SATURATION; H63D MUTATIONS; INCREASED IRON; HFE MUTATIONS; EXPRESSION; POPULATION; POLYMORPHISM; PREVALENCE;
Keywords:
hereditary hemochromatosis; HFE; blood donor; screening; population genetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Tordai, A Natl Inst Hematol & Immunol, Mol Biol Lab, Daroczi U24, H-1113 Budapest, Hungary Natl Inst Hematol & Immunol Daroczi U24 Budapest Hungary H-1113
Citazione:
H. Andrikovics et al., "Genotype screening for hereditary hemochromatosis among voluntary blood donors in hungary", BL CELL M D, 27(1), 2001, pp. 334-341

Abstract

Hereditary hemochromatosis (HH) is a common genetic disorder. Although it is inherited in an autosomal recessive manner, heterozygous individuals arebelieved to be protected against iron deficiency. Screening to estimate the prevalence of HH was frequently performed among blood donors, not considering that carriers of the HH gene mutations may be present in higher proportion in this population, To examine the allele frequencies of the BH gene (HFE) point mutations, C282Y and H63D genotyping was carried out in 996 consecutive, first-time, and regular Hungarian blood donors by PCR-RFLP techniques. Iron parameters of the first-time donors and the identified C282Y heterozygotes and age, gender, and number of previous blood donation-matched wild-type donors were also determined. We were not able to demonstrate a significant increase in the frequency of C282Y and H63D alleles among regular blood donors, compared to first-time blood donors. However, there was a trend of higher C282Y allele frequency among women with higher number of previous blood donations (2.2 +/- 1.5% in female blood donors with 0-8 previous blood donations compared to 4.8 +/- 2.3% in women with more than 8 previous blood donations, P 0.06). No detectable phenotypic differences were observed in serum iron, ferritin, and transferrin saturation values between C282Y wild-type and heterozygous groups. However, the single identified C282Y homozygous male (age 21) showed definite signs of iron overload. Our observations suggest that the protective effect of C282Y heterozygosity against irondeficiency may be less significant than other environmental (e.g., iron-rich diet) or genetic factors, (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 05:51:25