genetic analysis of alpha-thalassemia mutations in thi-gar province, iraq

The prevalence of alpha-thalassemia as a major health problem in the south of iraq has highlighted the necessity of investigations and screening of patients with thalassemia. the present study aimed to characterize the spectrum of alpha-globin gene mutations in patients who were followed up in a genetic diseases center in thi-qar province. a total of 30 subjects were collected from thalassemia patients and 15 cases as the control group. polymerase chain reaction (pcr) and direct sequencing were performed for functionally regions of the gene (exon 1 and exon 2). the fragment size amplified was 442 bp in the exon 1 region and 324 bp in the exon 2 region of α-globin. the molecular analysis of the sequence of pcr products revealed that 13 point mutation within the α-thalassemia gene included deletion and substitution mutation, while the rest of the mutations were in the intron site of the gene. these results indicated that mutations may constitute a risk of developing hemophilia b disease. molecular mechanisms in the expression of globin genes are used to help manage patients with thalassemia.