Aim: To describe the molecular spectrum of G6PD gene mutation(s) in a population sample of Saudi Arabian Hemoglobin S (HBS) patients versus normal control from matching ethnicity. Additionally, we aim to investigate whether HBS patients with G6PD mutation(s) are at higher risk of developing a stroke.
Methods: DNA was extracted from 48 HBS patients and 42 controls. The HBS gene was fully screened for mutations by direct sequencing. HBS status was determined by the presence of the GAT to GTG codon mutation. Risk of stroke status was determined by abnormally high cerebral velocities by transcranial Doppler. Time averaged means of maximum velocities higher than 2 m/s (middle, internal carotid, or anterior cerebral arteries) were considered as abnormal.
Results: Screening the full G6PD gene revealed the presence of the Mediterranean G6PD mutation (S188F) in our HBS patients (47.9%) and in controls (16.7%), and this difference was statistically significant (p = 0.0017). Additionally, we found that HBS patients homozygous for the S188F mutations are at higher risk of developing a stroke (p = 0.002) than healthy controls of matching age, sex, and ethnicity.
Conclusion: G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the risk of stroke.