Association of XmnI Polymorphism with Fetal Hemoglobin Level in Sudanese Patients with Sickle Cell Disease

Abstract

Background: Sickle cell disease (SCD) is an inherited blood disorder that affects red blood cells. The studyof various modulating factors, and genetic factors affecting the clinical severity of the SCD is an interestingresearch focus especially in communities with a distinct genetic background. The XmnI polymorphism isa common genetic variation that was reported in previous studies to increase fetal hemoglobin (HbF) level.This was a descriptive cross-sectional study, conducted in El-Obeid city in Northern Kordofan state, westernSudan, during the period from August to November 2016. The Xmn1 polymorphic site was determined bypolymerase chain reaction. Data was analyzed using SPSS software program version 20. P-value of 0.05and below was considered of significance. In present study HbF level among normal individuals AA , shownsignificant difference (p<0.05) between presence of Xmnl +/+ and absence of Xmnl -/- site. in patients withSS , the HbF level was higher in those who had one or two Xmnl sites as compared to those with the siteabsent . In patients with sickle cell trait AS and AA, only the presence of the one and two Xmnl site (+/+)compared to the absence of the site (-/-) was associated with significant increase in the HbF level. There isa close link between the Xmn1 polymorphism site and HbF level. A wide range of HbF level was obtainedboth in the present and absence of this site. Further studies with a large sample size as well as analysis BShaplotypes among the patient with sickle cell anemia population are needed for better understand of possibleassociation .