Beta-S globin haplotypes in patients with sickle cell anemia: one approach to understand the diversity in Brazil

Beta-Globin Haplotypes and Alpha-Thalassemia 3.7 kb Deletion in Sickle Cell Disease Patients From the Occidental Brazilian Amazon

“…Several haplotypes distribution analyses of variants linked to the globin β S gene have been published using population samples from distinct Brazilian regions, with conflicting results. Most of these studies show a predominance of CAR as compared to Ben (the two most frequent genotypes the same result observed here [16,20,23,28]. However, studies performed in population samples from northern Brazilian cities of Salvador and Fortaleza resulted in a predominance of Ben over CAR [12,19,21,29,30].…”

“…Finally, few studies have compared biochemical and hematological parameters across SCD individuals of different β-globin and α-thalassemia molecular backgrounds. Here we describe the β-globin and α-thalassemia genetic profile of a population sample of individuals affected by sickle cell and hemoglobin SC disease from the Brazilian Amazon, presented and discussed in the context of a comprehensive hematological and biochemical profile [20][21][22][23].…”

Sickle cell anemia: clinical diversity and beta S-globin haplotypes

“…In Brazil the main beta S-globin haplotype is CAR followed by BEN. In agreement with the historical origin of the afro-descendant population, the CAR haplotype is more common in the states of São Paulo ( 4 , 7 - 11 ) , Rio de Janeiro ( 12 - 14 ) , Minas Gerais ( 15 ) , Pernambuco ( 16 ) , Rio Grande doNorte ( 17 ) , Ceará ( 18 , 19 ) and Pará ( 20 , 21 ) . The BEN haplotype is more frequent than CAR in Bahia in general ( 22 , 23 ) , however, in Salvador (the capital city of Bahia), this frequency is different with similar frequencies for the CAR and BEN haplotypes ( 9 , 24 , 25 ) probably as a consequence of the domestic slave trade and subsequent internal migrations from other regions of Brazil.…”

Influence of beta-cluster haplotypes, alpha-gene status and UGTA1 polymorphism on clinical and hematological data in sickle-cell disease children from French Guiana

“…This distribution of haplotypes was identical to that described in Guadeloupe and Trinidad [20,21]. However, it differed from those previously described in Brazil [22,23]. Numerous studies have been published on β S -globin haplotypes.…”