Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia^✰,✰✰.

ABSTRACT:

Purpose of the study

Fetal hemoglobin (HbF) is a modifier of the clinical and hematologic phenotype of sickle cell anemia (SCA). Three quantitative trait loci (QTL) modulate HbF expression. The neurocognitive effects of variants in these QTL have yet to be explored. We evaluated the relation between 11 SNPs in the three HbF QTL: BCL11A, MYB, the HBB gene cluster, and full-scale intelligence (IQ) in SCA.

Patients and methods

The prospective longitudinal cohort study, Sickle Cell Clinical Research and Intervention Program, was used as a discovery cohort (n = 166). The genotypes for 11 SNPs were extracted through whole genome sequencing and were analyzed using an additive model. A polygenic score for HbF (PGS^HbF) integrating the numbers of low HbF alleles from 11 SNP

SUBMITTER: Heitzer AM 

PROVIDER: S-EPMC9086114 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature