STUDYING THE SOCIO-DEMOGRAPHIC PROFILE AND THE MOLECULAR BASES OF THALASSEMIA IN BASRAH/ IRAQ.

Abstract

The thalassemia is one of the most common inherited diseases worldwide with considerable frequencies in the Middle East region, including Iraq. As the disease requires long-term care, an establishment of an effective preventative program creates a major armament in management. As part of this effort, we established a primary study to determine the types of thalassemic patients based on family medical history, age, region, blood groups and consanguineous marriages. The results showed that the recruited patients (120) were distributed in nine different regions of Basrah province with high percentage (43.33%) in central city with age 8-12 years (30.7%), O+ blood group (40%) and 80.83 % of the investigated patients had consanguineous marriages. Based on the present findings, the molecular basis of fifty four thalassemic patients were investigated, using ARMS-PCR (Amplification Refractory Mutation System), to determine the most common types of thalassemia mutations in the region. Seven mutation types were detected (IVS1nt.5, Codon 8/9, Codon-88, Codon 8, Codon 15 Asia Indian, Codon 41/42, Codon 30). The results showed that codons 30,-88 and IVS Int 5.mutations were the highest frequent compared with other mutations studied in the thalassemic samples.