Characterization of IVS–110,IVS–6 and Codon 39  beta–thalassemia mutations using amplification  refractory mutation system (ARMS) technique in  Bisha, Saudia Arabia

Dr. Khaled Ismail Ghaleb; Dr.Mohamed Metwaly Mohamed

Volume : IV, Issue : I, January - 2014

Characterization of IVS–110,IVS–6 and Codon 39 beta–thalassemia mutations using amplification refractory mutation system (ARMS) technique in Bisha, Saudia Arabia

Dr. Khaled Ismail Ghaleb, Dr. Mohamed Metwaly Mohamed

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 .