Genetic Polymorphisms at BcL11A Sites rs10184550 and rs7599488 in Sudanese Sickle Cell Patients

Abstract

Background: BCL11A is associated with HbF in many populations with different variants of polymorphisms, our study aimed to estimate the prevalence Bcl11a polymorphisms and its association with HbF in Sudanese sickle cell patients Materials and methods: This study was done in Jafar Ibn Ouf Children's Hospital from March to August 2019 DNA was extracted using the phenol-chloroform technique, the Bcl11A was processed for (rs10184550), and (rs7599488) Sanger sequencing was used to detect polymorphisms after the purification of DNA. Results: A total of 21 were successfully sequenced, 21 were screened for SNPs (rs10184550) while 7 patients were screened for both BCL11A (rs10184550) and (rs7599488) polymorphisms. Single nucleotide polymorphisms (SNPs) (rs10184550) 16 (76.2%) were males and 5 (23.8%) were females with a mean age of 6.6± 2.9 years (range 2-12 years), The mean HbF level was 16.9±6.6%. For rs10184550 polymorphisms, out of 21 patients, 11 /21 (52%) patients had the “A” allele, and 10/21 (48%) patients had the “G” allele. For, rs7599488, the “T” allele was detected in 1/7 (14%) patients. In comparison, the “C” allele was detected in 6/7 (86%) patients. Out of 7 patients who screened for BCL11A (rs10184550) and (rs7599488) polymorphisms, 6 patients have rs10184550 “G” allele and rs7599488 “C” allele, while one patient had rs10184550 “A” allele and rs7599488 “C” allele. Furthermore, patients with allele “A” rs10184550 have a significantly higher mean HbF level than patients with the “G” allele (20.1± 6.2 vs 13.43± 5.5, p =0.01 Conclusion: Bcl11 polymorphism is associated with high haemoglobin F in Sudanese sickle cell patients.