Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

Abstract

βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.

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.…”

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

“…Although molecular characterization surveys of popula- tions affected by SCD have been carried out in several countries including Brazil, results have been often conflicting [14][15][16][17][18][19]. In addition, for some particularly interesting regions of Brazil, such as the occidental Amazon, this molecular profile is still widely unknown.…”

Study on sickle cell disease haplotypes reveals the African origin of Amapá's population

“…However, there is low frequency of the Benin haplotype. Meanwhile, the Southeast Region of Brazil (Rio de Janeiro), which received slaves mainly from Central Africa, corresponds to the Brazilian standard, with predominance of Bantu, followed by Benin, and low or no Senegal frequency (6,7,17) .…”

“…Cameroon haplotypes come from the central area of Cameroon. Saudi, the fifth haplotype, is found in the eastern province of Saudi Arabia and in Central India (1,3,7,13) .…”