Detection of BCL11A, HMIP, and XmnI polymorphisms among anemic pregnant women in hospital Universiti Sains Malaysia

Abstract

BACKGROUND: Anemia is one of the most common conditions in women during pregnancy. Fetal hemoglobin (HbF) levels are usually 3.2%) and normal HbA2 level (≤3.2%) to detect mutation at b-globin gene cluster. Allelic discrimination for rs1186868, rs9376090, and rs7482144 was performed using the real-time PCR technique for samples with no mutation detected. The mean age of patients was 31 ± 5.9 years. The HbF and Hb levels showed a strong positive correlation (r = 0.61). Out of 22 samples, 15 mutations at the b-globin gene and no mutation at the δβ-globin gene were detected. The mean difference of HbF level of patients with and without b-globin gene cluster was 1.07 ± 0.6 and 1.79 ± 3.5, respectively. The minor allele frequency (MAF) for the studied single nucleotide polymorphisms as follows: rs1186868 (MAF = 0%), rs9376090 (MAF = 19%), and rs7482144 (MAF = 32.8%). CONCLUSION: In conclusion, the baseline HbF levels were unaltered by BCL11A, HMIP, and XmnI genetic polymorphisms.

Keywords

• anemia
• fetal hemoglobin
• heterozygous
• homozygous
• pregnancy
• single nucleotide polymorphism[/tag:2]