The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.

ABSTRACT: Sickle cell disease (SCD) is phenotypically heterogeneous. One major genetic modifying factor is the patient's fetal hemoglobin (HbF) level. The latter is determined by the patient's β-globin gene cluster haplotype and cis- and trans-acting single nucleotide polymorphisms (SNPs) at other distant quantitative trait loci (QTL). The Arab/India haplotype is associated with persistently high HbF levels and also a relatively mild phenotype. This haplotype carries the Xmn1 (C/T) SNP, rs7482144, in the HBG2 locus. The major identified trans-acting QTL contain SNPs residing in the BCL11A on chromosome 2 and the HMIP locus on chromosome 6. These collectively account for 15-30% of HbF expression in different world populations and in patients with SCD or β-thalassemia. Patients with SCD in Kuwait and

SUBMITTER: Adekile A 

PROVIDER: S-EPMC8280415 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature