A study on the genotype frequency of [Formula: see text] ([Formula: see text]) Xmn1 polymorphism in a sickle cell trait cohort from Siwa Oasis, Egypt

Sickle cell haemoglobinopathy is a genetic disorder caused by the presence of haemoglobin S (HbS) including sickle cell disease (SCD) (sickle cell anemia, [Formula: see text]-thalassaemia and HbSC disease) and sickle cell trait. In Siwa Oasis, most remote oasis town in Egypt, the prevalence rate of sickle cell haemoglobinopathy is approaching 20%. The Xmn1 polymorphism was reported to increase the HbF level ameliorating the severity of the SCD. The present study aims mainly to investigate the genotype frequency of [Formula: see text] ([Formula: see text]) Xmn1 polymorphism in Siwa Oasis, Egypt and to study, if possible, any association with increased HbF expression. This study was performed on 62 sickle cell carriers (AS), three cases of sickle cell anaemia (SS) detected during a screening programme conducted on primary school children in Siwa Oasis by Alexandria Faculty of Medicine in 2011–2012. Sixty-five age-matched and sex-matched healthy controls (AA) were included. All enrolled children were subjected to PCR-RFLP for the detection of [Formula: see text] ([Formula: see text]) Xmn1 polymorphism using the Xmn1 restriction enzyme. Genotyping of the [Formula: see text] ([Formula: see text]) Xmn1 polymorphism revealed that among AS, 85.5% were homozygous for the wild-type allele (CC) and 14.5% were heterozygous (CT). However, among SS, two cases were homozygous for the wild-type allele (CC) and one case was heterozygous (CT). The genotype frequencies among AA were 83.1% homozygous for the wild-type allele (CC) and 16.9% heterozygous (CT). None of the studied cases or controls was homozygous for the mutant allele (TT). Among both AS and AA, there was no significant difference between the wild-type and heterozygous genotypes regarding HbF level. Studying genotype frequency of the Xmn1 [Formula: see text] globin polymorphism ([Formula: see text]) in Siwa Oasis, Egypt can be considered as a starting point for further research targeting this community sector. However, in our studied cohort, there were only three sickle cell anaemia patients. Further, none of the tested cases or controls was found to be homozygous for the mutant allele (TT). In the absence of any homozygous genotype for the mutant allele (TT) in the studied cohort, any reasonable conclusion on the effect of polymorphism on increase in HbF could not be established. Further studies with a larger sample size are needed for better understanding of the possible association.