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BIBTEX RIS

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

2011; Brazilian Society of Genetics; Volume: 34; Issue: 3 Linguagem: Inglês

10.1590/s1415-47572011005000027

ISSN

1678-4685

Autores

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

Tópico(s)

Blood groups and transfusion

Resumo

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.

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