Prevalence of beta-thalassemia gene mutations in Iran

Beta thalassemia is one of the autosomal recessive diseases that related to synthesis disorder of beta globin chain. It is caused by any of the more than 200 mutations in the β-globin gene. This study aimed to review prevalence of beta-thalassemia gene mutations in Iran. This review article by searching on Google scholar search engines and databases magiran, Sid, PubMed and iranmedex by keyword Beta thalassemia, gene, gene mutation and beta chain between 1995 and 2015 was done. The results showed that mutations in the IVS II-1 (G> A) is the most common gene mutation. Also, mutations in codon mutation 36.37 and IVSI-110, codon 30, Fr8-9, codon 5 also had high prevalence. Gene mutations were different in the north and south of the country. That common gene mutation in codon 36.37 and in the province of Khuzestan IVSII-1G> A was observed. The gene mutation in Tabriz, West Azerbaijan and Kurdistanwere was similar to Mazandaran. Providing such information could help to improve screening programs and prevention of birth with beta thalassemia. According to the same gene mutations in some provinces of the country, further investigation is needed in this regard.

کلیدواژه ها:

Beta thalassemia ، Gene ، Gene mutation ، Beta chain