Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura

Genetics and Molecular Biology

Greice Lemos Cardoso¹  Silvania Yukiko Lins Takanashi¹  João Farias Guerreiro¹ 

[1] ,Universidade Federal do Pará Instituto de Ciências Biológicas Laboratório de Genética Humana e MédicaBelém PA ,Brazil

关键词: sickle cell disease;    thalassemias;    Afro-Amazonian;   

DOI  :  10.1590/S1415-47572012005000041

来源: SciELO

【 摘 要 】

The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%) was significantly lower than that encountered in other Afro-derived communities in the region. Concomitantly, the absence of the HBB*C allele has been reported for most of the Afro-Amazonian communities thus far studied. As remnant populations of quilombos are generally small, the heterogeneous distribution of HBB*S and HBB*C alleles among them is probably due to genetic drift and/or founder effect. The observed frequency of 3.7 kb deletion in Saracura (8.5%) was consistent with the African origin of the population, with a certain degree of local differentiation and admixture with individuals of Caucasian ancestry, placed in evidence by the occurrence of - -(MED) deletion (1.2%), a common mutation in Mediterranean regions. As regards f-thalassemia, among the seven different mutations found in Saracura, three βºand two β+ mutations were of Mediterranean origin, and two β+ of African. Thus, only 28% of the local β-thalassemia mutations found in Saracura were of African origin.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License