Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/25626
Title: Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil
Authors: Figueiredo, Maria Stella [UNIFESP]
Kerbauy, José [UNIFESP]
Goncalves, M. S.
Arruda, V. R.
Saad, STO
Sonati, M. F.
Stoming, T.
Costa, F. F.
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
MED COLL GEORGIA
Keywords: sickle-cell disease
clinical features
hemoglobin S
haplotypes
alpha-thalassemia
Issue Date: 1-Oct-1996
Publisher: Wiley-Blackwell
Citation: American Journal of Hematology. New York: Wiley-liss, v. 53, n. 2, p. 72-76, 1996.
Abstract: To compare the features of sickle-cell anemia in Brazil with those in other locales, we studied the effects of the beta-globin-like gene cluster haplotype and alpha-thalassemia upon the clinical and hematological features in 85 patients, the distribution of haplotypes differed from that in the United States and Jamaica, the Central African Republic (CAR) haplotype predominated; 34% of patients were CAR haplotype homozygotes, 45% CAR/Benin homozygotes, and 71% Benin homozygotes. No Senegal haplotype chromosomes were observed, alpha-thalassemia was present in 17.5% of patients, HbF levels were higher in Benin homozygotes, compared with the other two groups (P < 0.05). Nearly half the patients with a CAR haplotype had leg ulcers, compared to 12.5% of the Benin homozygote group; stroke did not occur in alpha-thalassemia carriers, but neither result was statistically significant. As in other studies, our results indicate that the CAR haplotype may be associated with more severe disease. (C) 1996 Wiley-Liss, Inc.
URI: http://repositorio.unifesp.br/handle/11600/25626
ISSN: 0361-8609
Other Identifiers: http://dx.doi.org/10.1002/(SICI)1096-8652(199610)53:2<72
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