Article
A genetic risk score based on BCL11A and HBS1L-MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients.
British journal of haematology - 1 Jun 2026
Arcanjo Gabriela S, Silva Alexsandro P, Diniz Madi V, Domingos Igor F, Pereira-Martins Diego A, Araújo Amanda B, França Talita S S, Anjos Ana C, Araujo Aderson S, Belini-Junior Edis, Saad Sara T O, Costa Fernando F, Lucena-Araujo Antonio R, Bezerra Marcos André C
Abstract excerpt
Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co-inheritance of genetic variants that regulate globin expression. In this study, we investigated the association of BCL11A rs4671393, rs1427407, rs11886868 and HBS1L-MYB rs9399137 polymorphisms...
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