Molecular variations linked to the grouping of β- and α-globin genes in neonatal patients with sickle cell disease in the State of Pernambuco, Brazil

Various factors have been described as phenotypic modulators of sickle cell disease, such as levels of fetal hemoglobin (Hb F), presence of alpha-thalassemia (that), and, haplotypes of the ss-globin genes. In order to characterize and determine the frequency T of the ss(S) and ss(C) mutations and the prevalence of -alpha(3.7)-that, 74 patients with sickle cell disease detected during neonatal screening in the State Of Pernambuco, Brazil, were studied. The haplotypes of the ss gene and -alpha(3.7)-that were determined usingpo ymerase chain reaction (PCR), and specific restriction endonucleases were used to establish the polymorphic sites of the haplotypes. The results showed the highfi-equenn, of the Central African Republic (CAR) or Bantu haploqpe in the State of Pernambuco, Brazil. The low frequency of the Benin haplotype recorded in this stuny, in courpafison with other states in northeast Brazil, suggests the diversity of origins of Afro-Brazilians in this region.