title: Molecular defects in beta-thalassaemias in the population of Saudi Arabia.
abstract: The beta-thalassaemias are a heterogeneous group of inherited disorders caused by mutations in and around the structural gene of the beta-chain of the adult haemoglobin (HbA). Studies at the gene level have identified a large number of beta-thalassaemia gene variations in different populations. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal detection of the beta-thalassaemias. In our unit, we initiated studies to investigate the molecular defects in beta-thalassaemias in Saudi Arabia using amplification-refractory mutation systems, dot blot analysis and restriction endonuclease analysis, and identified mutations producing beta(+)- and beta zero-thalassaemias. Twenty of the mutations encountered in the Asian, Mediterranean, Chinese and other Arab populations were investigated. The most commonly encountered mutations in Saudi beta-thalassaemia patients were IVS-I-110, IVS-II-1, CD 39, IVS-I-5 and IVS-I 3' end (-25), while frameshifts at CD 8/9, Cap+1 (A-->C) and CD 6 mutations were identified at a low frequency. These mutations account for 84.94% of the total beta-thalassaemia mutations. The remaining 15% remain unknown. This is the first report on the type and nature of mutations in Saudi beta-thalassaemia patients. It presents frequencies of twenty mutations and emphasises the need for further detailed investigations to clarify the whole spectrum of beta-thalassaemia mutations in the Saudi population.
authors.affiliation: Medical Biochemistry Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: M A
authors.initials: MA
authors.lastname: el-Hazmi
authors.forename: A R
authors.initials: AR
authors.lastname: al-Swailem
authors.forename: A S
authors.initials: AS
authors.lastname: Warsy
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D018912:Arabs; D001208:Asia; D001483:Base Sequence; D002681:China / Q000208:ethnology; D016384:Consensus Sequence; D016368:Frameshift Mutation; D006441:Hemoglobin A / Q000235:genetics*; D006801:Humans; D007194:India; D008877:Middle East; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012529:Saudi Arabia; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D006441:Hemoglobin A