Molecular studies on Yemeni sickle-cell-disease patients: Xmn I polymorphism.
Our studies of the Saudi population have shown that in patients with mild presentation of sickle-cell disease (SCD) from Saudi Arabia's eastern region, the prevalence of polymorphic sites is high. However, the prevalence is very low in patients with severe SCD from the south-west of the country. We expanded these studies to a group of Yemeni patients with severe SCD, resident in Riyadh. We investigated a total of 60 chromosomes carrying the sickle-cell (Hb S) gene and 14 chromosomes carrying the Hb A gene. Amongst the Hb AA group, the prevalence was 42.9% and 57.1% for the presence (+) and absence (-) of Xmn I polymorphic sites. In the Hb SS individuals, the prevalence of Xmn I polymorphic sites was similar to the prevalence reported in the south-western region of Saudi Arabia.
el-Hazmi
M A
MA
Medical Biochemistry Department, WHO Collaborating Centre for Haemoglobinopathies, Thalassaemias and Enzymopathies, College of Medicine, King Khalid University Hospital, Riyadh, Saudi Arabia.
Warsy
A S
AS
D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000097:blood / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D004906:Erythrocyte Count; D004909:Erythrocyte Indices; D005914:Globins / Q000235:genetics; D006441:Hemoglobin A / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D025202:Molecular Diagnostic Techniques; D011110:Polymorphism, Genetic / Q000235:genetics*; D015995:Prevalence; D012529:Saudi Arabia / Q000453:epidemiology; D012720:Severity of Illness Index; D015006:Yemen / Q000453:epidemiology
D006451:Hemoglobin, Sickle; D005914:Globins; D006441:Hemoglobin A; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific