BACKGROUND/AIMS: β(S)-Haplotype prevalence and its associations with clinical and hematological characteristics were assessed in Brazilian children with sickle cell anemia or Sβ⁰-thalassemia. METHODS: A retrospective randomized cohort study was undertaken with 208 SS and 13 Sβ⁰-thalassemia children derived from the Newborn Screening Program of the state of Minas Gerais. β(S)-Haplotypes were determined by PCR-RFLP. RESULTS: Thirty-nine percent of the SS subjects had the CAR/CAR genotype, 33% had CAR/Ben, 24% had Ben/Ben, 1% had CAR/Atp, 1% had Ben/Atp, and 1% had Arab-Indian/Ben; 1% could not be characterized. Of the Sβ⁰-thalassemia children, 5 were CAR/undefined, 2 were Ben/undefined, and 1 was CAM/undefined. There was no significant association between β(S)-haplotypes and the total Hb, Hb F, MCV, MCH, WBC, and reticulocyte count among the SS children. Likewise, no significant association was detected between β(S)-haplotypes and the frequency of acute chest syndrome episodes, blood transfusions, splenic sequestration, or cerebrovascular disease (high-risk/conditional transcranial Doppler ultrasonography or clinical stroke). A limited number of Sβ⁰-thalassemia children precluded valid analyses. CONCLUSIONS: The prevalence of β(S)-haplotypes in this study is in agreement with the historical records of African slaves brought to the state of Minas Gerais. Furthermore, β(S)-haplotypes CAR and Ben were not associated with any analyzed feature of children with sickle cell anemia.
BACKGROUND/AIMS: β(S)-Haplotype prevalence and its associations with clinical and hematological characteristics were assessed in Brazilian children with sickle cell anemia or Sβ⁰-thalassemia. METHODS: A retrospective randomized cohort study was undertaken with 208 SS and 13 Sβ⁰-thalassemia children derived from the Newborn Screening Program of the state of Minas Gerais. β(S)-Haplotypes were determined by PCR-RFLP. RESULTS: Thirty-nine percent of the SS subjects had the CAR/CAR genotype, 33% had CAR/Ben, 24% had Ben/Ben, 1% had CAR/Atp, 1% had Ben/Atp, and 1% had Arab-Indian/Ben; 1% could not be characterized. Of the Sβ⁰-thalassemia children, 5 were CAR/undefined, 2 were Ben/undefined, and 1 was CAM/undefined. There was no significant association between β(S)-haplotypes and the total Hb, Hb F, MCV, MCH, WBC, and reticulocyte count among the SS children. Likewise, no significant association was detected between β(S)-haplotypes and the frequency of acute chest syndrome episodes, blood transfusions, splenic sequestration, or cerebrovascular disease (high-risk/conditional transcranial Doppler ultrasonography or clinical stroke). A limited number of Sβ⁰-thalassemia children precluded valid analyses. CONCLUSIONS: The prevalence of β(S)-haplotypes in this study is in agreement with the historical records of African slaves brought to the state of Minas Gerais. Furthermore, β(S)-haplotypes CAR and Ben were not associated with any analyzed feature of children with sickle cell anemia.
Authors: Betânia Lucena Domingues Hatzlhofer; Diego Antonio Pereira-Martins; Igor de Farias Domingos; Gabriela da Silva Arcanjo; Isabel Weinhäuser; Diego Arruda Falcão; Isabela Cristina Cordeiro Farias; Jéssica Vitória Gadelha de Freitas Batista; Luana Priscilla Laranjeira Prado; Jéssica Maria Florencio Oliveira; Thais Helena Chaves Batista; Marcondes José de Vasconcelos Costa Sobreira; Rodrigo Marcionilo de Santana; Amanda Bezerra de Sá Araújo; Manuela Albuquerque de Melo; Bruna Vasconcelos de Ancântara; Juan Luiz Coelho-Silva; Ana Beatriz Lucas de Moura Rafael; Danízia Menezes de Lima Silva; Flávia Peixoto Albuquerque; Magnun Nueldo Nunes Santos; Ana Cláudia Dos Anjos; Fernando Ferreira Costa; Aderson da Silva Araújo; Antonio Roberto Lucena-Araújo; Marcos André Cavalcanti Bezerra Journal: Ann Hematol Date: 2021-02-13 Impact factor: 3.673
Authors: Roberta Faria Camilo-Araújo; Olga Maria Silverio Amancio; Maria Stella Figueiredo; Ana Carolina Cabanãs-Pedro; Josefina Aparecida Pellegrini Braga Journal: Rev Bras Hematol Hemoter Date: 2014-07-09
Authors: Paulo do Val Rezende; Kenia da Silva Costa; Jose Carlos Domingues Junior; Paula Barezani Silveira; André Rolim Belisário; Celia Maria Silva; Marcos Borato Viana Journal: Rev Bras Hematol Hemoter Date: 2016-05-21