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Titolo:
HB TAYBE (ALPHA-38 OR ALPHA-39 THR DELETED) - AN ALPHA-GLOBIN DEFECT,SILENT IN THE HETEROZYGOUS STATE AND PRODUCING SEVERE HEMOLYTIC-ANEMIA IN THE HOMOZYGOUS
Autore:
GALACTEROS F; GIRODON E; MRAD A; MARTIN J; GOOSSENS M; JABER L; COHEN IJ; TAMARY H; GOSHEN Y; ZAIZOV R; WAJCMAN H;
Indirizzi:
HOP HENRI MONDOR,INSERM,U91,51 AVE MARECHAL DE LATTRE DE TASSIGNY F-94010 CRETEIL FRANCE HOP BICETRE,INSERM,U299 F-94275 LE KREMLIN BICETR FRANCE BEILINSON MED CTR,SAMBUR CTR PEDIAT HEMATOL ONCOL IL-49100 PETAH TIQWA ISRAEL
Titolo Testata:
Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
fascicolo: 5, volume: 317, anno: 1994,
pagine: 437 - 444
SICI:
0764-4469(1994)317:5<437:HT(OAT>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-THALASSEMIA; HEMOGLOBIN-VARIANTS; MOLECULAR-BASIS; MUTATIONS; FRAGMENTS; MUTANT;
Keywords:
HB TAYBE; ALPHA-GLOBIN; HEMOLYTIC ANEMIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
F. Galacteros et al., "HB TAYBE (ALPHA-38 OR ALPHA-39 THR DELETED) - AN ALPHA-GLOBIN DEFECT,SILENT IN THE HETEROZYGOUS STATE AND PRODUCING SEVERE HEMOLYTIC-ANEMIA IN THE HOMOZYGOUS", Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 317(5), 1994, pp. 437-444

Abstract

Several alpha-chain hemoglobin variants have been described as responsible, in homozygous or compound heterozygous patients, for a chronic hemolytic disease that overlaps thalassemia and Heinz bodies hemolyticanemia phenotypes. These variants are present in trace amounts together with some Hb H in the lysate of the patients. In the asymptomatic heterozygous carriers, they are usually not detected by electrophoreticmethods. Hb Taybe is an example of such an unstable and thalassemic alpha-hemoglobin variant. This hemoglobin was observed in a young Israeli Arab woman having suffered since birth from a severe and highly regenerative hemolytic anemia for which she was splenectomized at age sixteen. The structural abnormality was characterized by protein chemistry as the deletion o a threonine residue at position alpha38 or 39 and assigned to the alpha1 gene by selective DNA sequencing. This structural modification is localized in helix C, which is a highly conserved 3(10) helix participating in the alpha1beta2 contact and close to the alpha1beta1 interface. The propositus and two siblings, who were also anemic, were found to be homozygous for the molecular defect, although the abnormal Hb was not detected in the latters. Consanguinity in thisfamily demonstrated the threshold effect in the clinical manifestations of such alpha-gene disorders since heterozygotes were clinically and biologically normal.

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Documento generato il 25/09/20 alle ore 00:14:53