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Titolo:
HB Johnstown [beta 109 (G11) Val -> Leu]: Second case described and associated for the first time with beta(0)-thalassemia in two Spanish families
Autore:
Ropero, P; Villegas, A; Gonzalez, AF; Anguita, E; Sanchez, J; Carreno, DL; Arrizabalaga, B; Atuxta, L;
Indirizzi:
Hosp Clin San Carlos, Serv Hematol & Hemoterapia, Madrid 28040, Spain HospClin San Carlos Madrid Spain 28040 Hemoterapia, Madrid 28040, Spain Hosp de Cruces, Serv Hematol & Hemoterapia, Bilbao, Spain Hosp de Cruces Bilbao Spain , Serv Hematol & Hemoterapia, Bilbao, Spain Hosp de Galdakao, Serv Hematol & Hemoterapia, Vizkaya, Spain Hosp de Galdakao Vizkaya Spain rv Hematol & Hemoterapia, Vizkaya, Spain
Titolo Testata:
AMERICAN JOURNAL OF HEMATOLOGY
fascicolo: 4, volume: 65, anno: 2000,
pagine: 298 - 301
SICI:
0361-8609(200012)65:4<298:HJ[1(V>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-DEGREE THALASSEMIA; OXYGEN-AFFINITY; HEMOGLOBIN; VARIANT;
Keywords:
hemoglobin high oxygen affinity; mutations DNA level; genotype; phenotype; erythrocytosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Villegas, A Hosp Clin San Carlos, Serv Hematol & Hemoterapia, C Prof Martin Lagos S-N,Madrid 28040, Spain Hosp Clin San Carlos C Prof Martin Lagos S-N Madrid Spain 28040
Citazione:
P. Ropero et al., "HB Johnstown [beta 109 (G11) Val -> Leu]: Second case described and associated for the first time with beta(0)-thalassemia in two Spanish families", AM J HEMAT, 65(4), 2000, pp. 298-301

Abstract

Hb Johnstown, a high oxygen affinity hemoglobin, was identified in four members from two unrelated Spanish families with erythrocytosis and left-shifted hemoglobin-oxygen dissociation curve. This hemoglobin variant, electrophoretically silent, was analyzed by reverse phase high performance liquid chromatography, and the mutation was characterized at the DNA level by beta gene sequencing. In one of these families, two members are affected with HbJohnstown in association with beta (0)-thalassemia. In these cases the erythrocytosis and low values for P-50 due to Hb Johnstown remain in spite of the beta -thalassemia. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 23:25:08