Abstract
Abstract The inclusion of hemoglobin S tests in the neonatal screeningprogram provides an opportunity to better understand the naturalhistory of sickle cell disease in the Brazilian population. Objective:To investigate phenotypic, molecular and laboratory features ofsickle cell disease children in order to identify risk factors related toprognosis. Methods: Sickle cell disease screening was carried outby high performance liquid chromatography. The beta-globin genecluster, methylenetetrahydrofolate reductase (MTHFR-C677T),Factor V Leiden (FV-G1691A) and prothrombin (PT-G20210A)gene mutations were investigated by polymerase chain reaction -restriction fragment length polymorphism. Alpha (3.7kb and 4.2kb)thalassemia deletions were determined by polymerase chain reaction.Results: One hundred and twenty-four children with a mean age of57.3 months (range 1-180) were investigated. One hundred andseven had sickle cell anemia and 17 had hemoglobin SC. Beta-globingene haplotypes were identified for 123 children: 53 (43.1%) Bantu/Bantu, 36 (29.3%) Bantu/Benin, 18 (14.6%) Bantu/atypical, 3 (2.4%)Benin/Benin, 2 (1.6%) CI/ atypical, 7 (5.8%) Bantu/CI; 2 (1.6%)Benin/CI and 2 (1.6%) Benin/atypical. The alpha 3.7 kb thalassemiamutation was found in 118 children, 19 (16.1%) were heterozygousand 3 (2.5%) homozygous. No alpha 4.2 mutation was found. Among
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