Detection of Rare and Unknown Mutations in ß- tathalassemia Traits in Iran

Abstract

Beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in Iran. Aboute 13 beta globin mutations encompass 70-90% of mutations spectrum in Iran, the rest are rare or unknown. In this study six mutations of the codon IVSI-130(G-C), Fr16 (-C), codon35 (-C), fr23/24(-G), codon8 (+G) and codon 20 (GTG-GAG) were recognized and added to spectrom of beta globin mutations in Iran, Using ARMS/PCR and DNA sequencing. Three latter cases are reported for first time.