Molecular genetic study on beta-thalassemia major in some Iraqi patients

Abstract EN

Genomic DNA was isolated from the blood of 75 patients who were diagnosed clinically and hematological as β-thalassemia major and from 20 blood samples of apparently healthy individuals as control, all these samples was collected from Baghdad thalassaemic center at Ibn-Al-Baladi pediatrics hospital.

Polymerase chain reaction (PCR) was used for amplification of 4 regions in β-globin gene.

The data show that IVS-1 NT 110 mutations are the most common in the population.

Codon 39 mutation was also found with relatively high incidence.

One of the subjects had a compound mutation which included IVS-1 NT 110 and CD8 mutations.

Eighteen of the β-thalassemia major patients showed none of the four common mutations.