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Titolo:
CLINICAL EXPRESSION OF A RARE BETA-GLOBIN GENE MUTATION CO-INHERITED WITH HEMOGLOBIN E-DISEASE
Autore:
VANSOLINGE WW; LIND B; VANWIJK R; HART HC; KRAAIJENHAGEN RJ;
Indirizzi:
EEMLAND HOSP,CLIN LAB,UTRECHTSEWEG 160 NL-3818 ES AMERSFOORT NETHERLANDS RIGSHOSP,KLIN BIOKEM AFDELING COPENHAGEN DENMARK ZIEKENHUIS EEMLAND,INTERNE GENEESKUNDE AMERSFOORT NETHERLANDS
Titolo Testata:
European journal of clinical chemistry and clinical biochemistry
fascicolo: 12, volume: 34, anno: 1996,
pagine: 949 - 954
SICI:
0939-4974(1996)34:12<949:CEOARB>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOLECULAR ANALYSIS; MESSENGER-RNA; THALASSEMIA; PHENOTYPE; SIGNAL; HBE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
W.W. Vansolinge et al., "CLINICAL EXPRESSION OF A RARE BETA-GLOBIN GENE MUTATION CO-INHERITED WITH HEMOGLOBIN E-DISEASE", European journal of clinical chemistry and clinical biochemistry, 34(12), 1996, pp. 949-954

Abstract

A single nucleotide substitution and the effect on the phenotype in an Indonesian family with beta-thalassaemia, HbE-trait and HbE-beta-thalassaemia is described. In the proposita (female, age 20 (Hb 7.4 mmol/l; MCV 72 fl; MCH 1.45 fmol; HbA(2) 3.5%; HbF 2.4%)). an A/G mutation in the RNA cleavage and polyadenylation sequence was detected (<AATA(A)under bar A>/<AATA(G)under bar A). Her sister (Hb 8.2 mmol/l; MCV 77 fl; MCH 1.60 fmol; HbA(2)/HbE 32.4%), carried a different mutation in the beta-globin gene (codon 25; G(129)/A), and consequently had HbE-trait. Their mother had a haemoglobin concentration of 6.4 mmol/l (MCV 56 fl; MCH 1.20 fmol; HbA(2)/HbE 55.8%). She was compound heterozygous for the mutation in the poly A-signal and HbE-trait. Using restrictionenzyme analysis and linkage studies, we subsequently identified six family members with HbE-beta-thalassaemia, five with beta-thalassaemia and six with HbE-trait. Two individuals were unaffected. The mutation in the polyadenylation sequence causes a mild form of beta(+)-thalassaemia. The MCV and MCH in individuals with both beta-thalassaemia and HbE-trait were significantly lower, yet on average they were only slightly more anaemic than those carrying only the thalassaemic gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 20:19:23