Identification of Three Novel Mutations [−41 (A>C), codon 24 (–G), and IVS-I-109 (−T)], in a Study of β-Thalassemia Alleles in the Isfahan Region of Iran

Abstract

β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders in Iran, with more than 15,000 registered cases of thalassemia major in the country. Iran has a multiethnic society and knowledge of the mutation spectrum and regional distribution is an essential requirement for health planning and a prenatal diagnosis program. We have determined the spectrum of mutations in patients from the Isfahan region of Iran. A study of 190 chromosomes revealed 24 different mutations, including three novel ones: −41 (A>C), IVS-I-109 (–T) and codon 24 (–G). The most common mutation was IVS-II-1 (G>A) (20.5%), followed by IVS-I-5 (G>C) (11%). The findings for the Isfahan region confirm the extremely heterogeneous nature of the molecular basis of β-thal in Iran. The results show that a strategy of using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for 14 of the most common mutations and DNA sequencing for the rare mutations can be used for prenatal diagnosis of β-thal in this region.

Keywords:

• β-Thalassemia (β-thal)
• Novel mutations
• Isfahan
• Iran