Análise dos haplótipos do gene da betaS-globina no Ceará

Abstract

The present work deals with numerous aspects related to the molecular nature of sickle cell anemia. The discovery of the DNA polymorphism in the ß s-globin gene cluster, gave origin to different haplotypes of the disease, making possible to enlarge the knowledge about the clinical heterogenity observed on the patients with sickle cell disease, in the various regions of the world. The different haplotypes and its hematological parameters were analysed in a group of 22 patients born in the State of Ceará, northeast of Brazil. The distribution found in the haplotypes frequency was of 55.9% for the Benin, of 41.2% for the CAR, and of 2.9% for Senegal haplotype. The data, compared to the others works done in Brazil, show relations among their values to alpha of 5% (p < 0,05). The results make possible a full understanding of the pathophisiology of the illness and of its clinical complexity in our State, as well as it allows a better knowledge of the sickle cell disease in our country.

Influence of βS-globin haplotypes hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia

“…In the present study, a significant increase of TNF-α levels was observed in the Bantu/n group compared to the Bantu/Benin group. This result can be explained by the fact that patients with the Bantu haplotype have a tendency of having more severe clinical manifestations because of the increased concentration of Hb S and decreased concentration of Hb F. 27 Sickled red blood cells exhibit abnormal adhesion to the vascular endothelium, thus contributing to the expression of adhesion molecules and amplification of inflammation by proinflammatory cytokines such as TNF-alpha. 8.…”

Análise dos haplótipos da anemia falciforme em Fortaleza revela as origens étnicas da população cearense

“…A composição dos haplótipos da AF foi analisada por outros pesquisadores no Ceará, que obtiveram o haplótipo Benin como o mais prevalente (3) . O presente estudo realizado em Fortaleza obteve o haplótipo Bantu com mais prevalência, seguido pelo Benin, em conformidade com dados históricos sobre as origens da população negra trazida ao estado do Ceará.…”

“…O presente estudo realizado em Fortaleza obteve o haplótipo Bantu com mais prevalência, seguido pelo Benin, em conformidade com dados históricos sobre as origens da população negra trazida ao estado do Ceará. O resultado difere estatisticamente (p = 0,0002) do trabalho realizado por Galiza-Neto GC et al (2005) (3) no mesmo hospital de referência, mas com um menor número de pacientes estudados.…”