Article
Genetic Modifiers of HbF in HbAA and HbAS Women From São Tomé e Príncipe: An Association Study of Common Genetic Variants in BCL11A, MYB, HBG2, and BGLT3.
Frontiers in bioscience (Scholar edition) - 25 Jun 2025
Manco Licínio, Morais Afonso Marques, Almeida Sara Miguel, Salgado Inês, Relvas Luís, Monteiro Celdidy, Queiroz Guilherme, Bento Celeste
Abstract excerpt
BACKGROUND: While an increase in fetal hemoglobin (HbF) has no consequences in healthy adults, clinical benefits can be promoted in sickle cell disease (SCD) and β-thalassemia patients. Single-nucleotide polymorphisms (SNPs) in three genomic regions: the HBB gene cluster, the BCL11A gene, and the HBS1L-MYB (HMIP) intergenic region, have been associated with HbF regulation. Therefore, the present study aimed to...
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