title: Molecular genetics of beta-thalassaemia syndrome in Pakistan.
abstract: This molecular genetics study was conducted in Karachi, Pakistan from 2004 to 2006 to provide guidelines for prenatal diagnosis programmes in the country. Blood samples of patients with beta-thalassaemia minor (n=200) and beta-thalassaemia major (n=150) were collected from hospitals, transfusion centres and diagnostic laboratories from different districts of Karachi, representing 5 major ethnic groups. Molecular analysis revealed 11 genetic mutations of the beta-thalassaemia gene, among which 5 mutations accounted for 88% of the total beta-thalassaemia genes identified [IVS-1-5 (G-C), Fr 8/9 (+G), Fr 41/42 (-TTCT), IVS-1-1 (G-T) and Del 619]. Other mutations identified were: CAP+1 IVS-II-1 (G-A), Cd 5 (-CT), Cd 15 (G-A). Cd 16 and Cd 30.
authors.affiliation: Institute of Hoematology, Baqai Medical University, Karachi, Pakistan. staytune1@hotmail.com
authors.forename: M
authors.initials: M
authors.lastname: Usman
authors.forename: M
authors.initials: M
authors.lastname: Moinuddin
authors.forename: R
authors.initials: R
authors.lastname: Ghani
mesh_terms: D001771:Blood Banks; D003241:Consanguinity; D004252:DNA Mutational Analysis / Q000379:methods; D004641:Emigration and Immigration / Q000706:statistics & numerical data; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D017720:Molecular Epidemiology / Q000379:methods; D009154:Mutation / Q000235:genetics*; D010154:Pakistan / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D017410:Practice Guidelines as Topic; D011296:Prenatal Diagnosis / Q000379:methods / Q000592:standards; D014504:Urban Health / Q000706:statistics & numerical data; D017086:beta-Thalassemia / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics* / Q000517:prevention & control