التغايرية الوراثية في مورثة الغلوبين بيتا لدى المصابين بالثلاسيمية بيتا في مناطق مختلفة من سورية

الملخص EN

Objective : β-thalassemia disease is caused by mutations in the β-globin gene.

this is considered as one of the common genetic disorders in Syria.

the aim of this study was to identify the frequency of the most common betathalassemia mutations, according to the patient’s region in Syria.

methods : β-globin gene mutations were characterized by DNA isolation and using the amplification refractory mutations system-polymerase chain reaction technique.

results : the study included 143 Syrian patients, the age between of 1 and 57 years with average 17 years, males were 53% and females were 47% in the research sample.

it was observed that the presence of mutation -30 (t>a)/-30(t>a) is 29% and the presence of mutation codon 8 (-aa)/codon 8 (-aa) is 22% in the patient’s group of Damascus countryside, they were larger than their presence in other studied areas (Damascus, southern region, central and coastal regions, northern region, eastern region).

while the presence of codon 39 (c>t)/codon 39 (c>t) mutation was 50% in the eastern region, was higher than southern region and central and coastal region patients.

conclusions : these data will significantly facilitate the genetic counseling and prenatal diagnosis in each region.