Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea

• Published in: Blood advances Vol. 2; no. 6; pp. 626 - 637
• Main Authors: Bernaudin, Françoise, Arnaud, Cécile, Kamdem, Annie, Hau, Isabelle, Lelong, Françoise, Epaud, Ralph, Pondarré, Corinne, Pissard, Serge
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 27.03.2018; American Society of Hematology; Elsevier
• Subjects: alpha-Globins - genetics; Anemia, Sickle Cell - diagnosis; Anemia, Sickle Cell - drug therapy; Anemia, Sickle Cell - genetics; Anemia, Sickle Cell - metabolism; beta-Globins - genetics; Biomarkers; Enzyme Activation; Female; Fetal Hemoglobin - genetics; Genetic Association Studies; Genetic Predisposition to Disease; Global Advances; Glucosephosphate Dehydrogenase - metabolism; Glucosephosphate Dehydrogenase Deficiency - genetics; Glucosephosphate Dehydrogenase Deficiency - metabolism; Haplotypes; Humans; Hydroxyurea - therapeutic use; Male; Polymorphism, Single Nucleotide; Prevalence; Promoter Regions, Genetic; Red Cells, Iron, and Erythropoiesis; Risk Factors; Treatment Outcome

Sickle cell anemia (SCA), albeit monogenic, has heterogeneous phenotypic expression, mainly related to the level of hemoglobin F (HbF). No large cohort studies have ever compared biological parameters in patients with major β-globin haplotypes; ie, Senegal (SEN), Benin (BEN), and Bantu/Central Afric...