The role of alpha-thalassemia in Sickle Cell Disease phenotype in Angolan pediatric patients

publicado em: Journal of Sickle cell Disease and Hemoglobinopathies. 2020 Jun 12;7:40. Sickle cell disease is a monogenic disease with early onset manifestations that begin in childhood and is characterized by high clinical heterogeneity, being influenced by genetic and environmental factors. Among disease modulators fetal hemoglobin and alpha thalassemia are among the most important. There is little data on these factors in sickle cell disease patients from Africa and none from Angola where the prevalence of the disease is very high. The aim of this study was to explore the possible association between alpha thalassemia, Fetal hemoglobin, hematological indices and clinical events in Angolan sickle cell disease Hydroxyurea-naïve pediatric patients. This cross-sectional study is part of a large study in an Angolan sickle cell disease cohort conducted in the Hospital Pediátrico David Bernardino in Luanda and in Hospital Geral do Bengo in Caxito. Sampling was performed between April and August 2019. A total of 200 sickle cell disease children were included, after guardian informed consent, being 51,5% females. A venous blood sample was collected from each participant and used for hematological analyses, electrophoresis for diagnosis confirmation, Fetal hemoglobin quantification by HPLC (Bio-Rad variant II). DNA isolation was done by Qiagen blood mini kit, and the 3.7 kb alpha thalassemia deletion was studied by GAP-PCR. ANOVA, non-parametric tests and Chi-square tests were applied to compare the means, medians or frequencies between the three alpha thalassemia genotypes. P-value