Determination of beta(S) haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

Author(s)

Kitayama Cabral, Cynthia Hatsue ^[1] ; Soares Serafim, Edvis Santos ^[2] ; Dantas Bezerra de Medeiros, Waleska Rayane ^[1] ; Araujo de Medeiros Fernandes, Thales Allyrio ^[3] ; Kimura, Elza Miyuki ^[4] ; Costa, Fernando Ferreira ^[5] ; Sonati, Maria de Fatima ^[4] ; Moretti Rebecchi, Ivanise Marina ^[1] ; Dantas de Medeiros, Tereza Maria ^[1]

Affiliation

^[1] Univ Fed Rio Grande do Norte, Dept Anal Clin & Toxicol, BR-59010180 Natal, RN - Brazil

^[2] Hemoctr Dalton Barbosa Cunha, Natal, RN - Brazil

^[3] Univ Estado Rio Grande do Norte, Dept Ciencias Biomed, Mossoro, RN - Brazil

^[4] Univ Estadual Campinas, Dept Patol Clin, Fac Ciencias Med, Campinas, SP - Brazil

^[5] Univ Estadual Campinas, Hemoctr, Campinas, SP - Brazil

• Document type: Journal article
• Source: GENETICS AND MOLECULAR BIOLOGY; v. 34, n. 3, p. 421-424, 2011.
• Web of Science Citations: 4

Abstract

beta(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. (AU)

• FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
• Grantee: Fernando Ferreira Costa
• Support type: Research Projects - Thematic Grants