Article
Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia.
Journal of human genetics - 1 Dec 2022
Sales Rahyssa Rodrigues, Nogueira Bárbara Lisboa, Belisário André Rolim, Faria Gabriela, Mendes Fabiola, Viana Marcos Borato, Luizon Marcelo Rizzatti
Abstract excerpt
Single nucleotide polymorphisms (SNPs) of BCL11A gene and HBS1L-MYB intergenic region (named HMIP-2) affect both fetal hemoglobin (HbF) concentration and clinical outcomes in patients with sickle cell anemia (SCA). However, no previous study has examined the interaction among these SNPs in the regulation of HbF. We examined whether HbF-boosting haplotypes combining alleles of functional SNPs of BCL11A and HMIP-2...
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