Genetics and Molecular Biology (Jan 2011)

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

  • Cynthia Hatsue Kitayama Cabral,
  • Édvis 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

Journal volume & issue
Vol. 34, no. 3
pp. 421 – 424

Abstract

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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.

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