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

BACKGROUND: Anemia is one of the most common conditions in women during pregnancy. Fetal hemoglobin (HbF) levels are usually <1.0%. There are several genetic loci that have a significant influence on HbF levels. AIMS AND OBJECTIVES: The aim of this study is to determine the association of HbF level and DNA polymorphism at BCL11A rs1186868, HMIP rs9376090, and XmnI rs7482144 in anemic pregnant women. MATERIALS AND METHODS: Blood samples were collected from 164 anemic pregnant women at Obstetrics and Gynecology Clinic, Hospital Universiti Sains Malaysia. High-performance liquid chromatography was used to determine the HbF and HbA2 levels. RESULTS: Multiplex amplification-refractory mutation system-polymerase chain reaction (PCR) and gap-PCR were performed for 44 samples with a high HbA2 level (>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.