Please use this identifier to cite or link to this item:
https://www.arca.fiocruz.br/handle/icict/6175
CLINICAL AND MOLECULAR CHARACTERISTICS OF SICKLE CELL ANEMIA IN THE NORTHEAST OF BRAZIL
βS-globin gene haplotypes
Fetal hemoglobin
Author
Affilliation
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Hospital São Rafael. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brazil
Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil
Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil
Abstract
Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2
gene 3.7 kb deletion (-α2
3.7 kb thal) along with demographic and clinical data were investigated in SCA outpatients
(n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed
that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin
(Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident.
The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical
haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to those > 18 y, those aged ≤ 18 y had
had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36) but a higher frequency of spleen
sequestration and pneumonia. Compared with normal α - genes carriers values, the outpatients with -α2
3.7 kb thal (determined
by PCR analysis) had significantly higher mean hemoglobin concentration (Hb) (8.3 ± 1.34 g/dL, p = 0.018) and
packed cell volume (PCV = 27.1% ± 4.26, p = 0.019) but low mean corpuscular volume (MCV = 86.1 fL = 10-15 L ± 9.56,
p = 0.0004) and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039).
Keywords
alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 thal)βS-globin gene haplotypes
Fetal hemoglobin
Share