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. 2011 Jul;34(3):421-4.
doi: 10.1590/S1415-47572011005000027. Epub 2011 Jul 1.

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

Cynthia Hatsue Kitayama Cabral  1 , Edvis Santos Soares Serafim, Waleska Rayane Dantas Bezerra de Medeiros, Thales Allyrio Araújo de Medeiros Fernandes, Elza Miyuki Kimura, Fernando Ferreira Costa, Maria de Fátima Sonati, Ivanise Marina Moretti Rebecchi, Tereza Maria Dantas de Medeiros
Affiliations

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

Cynthia Hatsue Kitayama Cabral et al. Genet Mol Biol. 2011 Jul.

Abstract

β(S) 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.

Keywords: Brazilian population; S hemoglobin; haplotypes; sickle-cell anemia; β-globin.

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