Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil

• Autor(a) principal: Figueiredo, Maria Stella [UNIFESP]
• Data de Publicação: 1996
• Outros Autores: Kerbauy, José [UNIFESP], Goncalves, M. S., Arruda, V. R., Saad, STO, Sonati, M. F., Stoming, T., Costa, F. F.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1002/(SICI)1096-8652(199610)53:2<72; http://repositorio.unifesp.br/handle/11600/25626
• topic: sickle-cell disease; clinical features; hemoglobin S; haplotypes; alpha-thalassemia

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.