The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease

Introduction Fetal hemoglobin (HbF) is the major modifier for sickle cell disease (SCD) severity. HbF is modulated mainly by three major quantitative trait loci (QTL) on chromosomes 2, 6, and 11. Methods Five SNPs in the three QTLs (HBG2, rs7482144; BCL11A, rs1427407 and rs10189857; and HBS1L‐MYB in...

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Published in:International journal of laboratory hematology 2019-02, Vol.41 (1), p.87-93
Main Authors: Al‐Allawi, Nasir, Qadir, Shatha M. A., Puehringer, Helene, Chui, David H. K., Farrell, John J., Oberkanins, Christian
Format: Article
Language:English
Subjects:
Alleles
Anemia, Sickle Cell - genetics
Carrier Proteins - genetics
fetal hemoglobin
Fetal Hemoglobin - genetics
Fetuses
Gene frequency
Hemoglobin
Humans
Hybridization
Iraq - ethnology
Iraqi Kurds
Leukocytes
Nuclear Proteins - genetics
Pain
Phenotype
Phenotypes
Phenotypic variations
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Reticulocytes
Sickle cell disease
Single-nucleotide polymorphism
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Summary:Introduction Fetal hemoglobin (HbF) is the major modifier for sickle cell disease (SCD) severity. HbF is modulated mainly by three major quantitative trait loci (QTL) on chromosomes 2, 6, and 11. Methods Five SNPs in the three QTLs (HBG2, rs7482144; BCL11A, rs1427407 and rs10189857; and HBS1L‐MYB intergenic region, rs28384513 and rs9399137) were investigated by multiplex PCR and reverse hybridization, and their roles in HbF and clinical phenotype variability in Iraqi Kurds with SCD were assessed. Results HBG2 rs7482144 with minor allele frequency (MAF) of 0.133 was the most significant contributor to HbF variability, contributing 18.1%, followed by rs1427407 (MAF of 0.266) and rs9399137 (MAF of 0.137) at 14.3% and 8.8%, respectively. The other two SNPs were not significant contributors. Furthermore, when the cumulative numbers of minor alleles in the three contributing SNPs were assessed, HbF% and hemoglobin concentration increased with increasing number of minor alleles (P 
ISSN:1751-5521
1751-553X
DOI:10.1111/ijlh.12927