Qom University of Medical Sciences Journal

Background and Objectives Thalassaemia is one of the most common single gene disorders, which is most prevalent in the Mediterranean, the Middle East, Indian subcontinent (malaria belt). One of the mutations that result in Thalassaemia is the deletion in beta globin gene cluster. These deletions cause abnormal expressions of β, δ, ε, γ genes. At least 60 different deletions involving the beta globin gene cluster have been described to date. The molecular tests commonly used to identify these deletions are based on direct and indirect methods. With difficulties in detecting deletions and inadequate information about deletions in Iran, finding a method that can detect deletions very easily is very important.   Methods The patients’ samples for which no abnormalities had been found using conventional DNA techniques were analyzed with MLPA assay. MLPA was done by ABI thermocycler and the result of MLPA were analyzed by Gene Marker software. Confirmation of MLPA results were done by Real-Time PCR.   Results In 17 patients’ samples, we found deletions leaving the beta globin gene cluster completely or partially. Most of the deletions were Sicilian, Lepore and 1 Asian-Indian and Turkish, and some were new ones.   Coclusion MLPA is a rapid and sensitive method for high resolution analysis of the beta globin gene cluster.