title: Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status.
abstract: The presence of the sickle cell (Hb S) gene in Saudi Arabia was first reported by Lehmann et al. in 1963 [Nature 198, pp. 492-493]. Later, Hb S, alpha- and beta-thalassaemia, glucose-6-phosphate dehydrogenase deficiency and other enzymopathies were shown to occur at a variable prevalence in different regions of the country. Recent studies using restriction endonucleases have revealed alpha-globin gene arrangement and beta-globin gene polymorphism in the Saudi population. Interactions between abnormal genes are commonly encountered which often influence the clinical manifestations of sickle cell disease. In this paper, we present recent findings and discuss the status of haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia.
mesh_terms: D002872:Chromosome Deletion; D004798:Enzymes / Q000172:deficiency*; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology; D006453:Hemoglobinopathies / Q000453:epidemiology*; D006801:Humans; D008297:Male; D012529:Saudi Arabia; D013789:Thalassemia / Q000453:epidemiology* / Q000235:genetics
chemical_list: D004798:Enzymes