Characterization of beta-thalassemia mutations using amplification refractory mutation system (ARMS) technique in Bisha, Saudia Arabia

Abstract

The current study aim to characterized the thalassemia mutations in Bisha,Saudia rabia using amplification refractory mutation system(ARMS) in detection of the IVSI-110, IVSI-6 and codon 39 mutations. The study comprised of 50 cases from King Abdullah hospital, 20 females and 30 males and the age between 3 -25 years. The result revealed that IVS110 were7 cases(14%) homozygous and 15 cases(30%) heterozygous, IVSI-6 were 6 cases(12%) homozygous and 16 cases(32%) heterozygous , finally the codon 39 mutations were 2 cases(4%) homozygous and 12 cases(24%) heterozygous. The conclusion is the high incidence of mutations were in IVSI-110 were 7% and the low incidence were codon 39 for beta thalassemia in Bisha, Saudia Arabia by using ARMS technique .

Keywords

• Beta-thalassemia- ARMS – Molecular- mutations-primers-pecific amplifications