The present study aimed to demonstrate the extent to which the activity of a number of enzymes and genetic variation of β-globin genes were affected in the blood of 65 children with β - thalassemia major of both sexes. The patients, with an age range of 2 – 15 years, were registered in the Thalassemia Center at Ibn Al-Atheer Teaching Hospital for Children in the city of Mosul / Iraq. They were under continuous treatment after being diagnosed by specialist doctors. The study also involved 30 healthy children of both sexes with the same age range who were considered as a control group.
The results showed significant increases (p≤0.05) in the activities of alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), glucose 6- phosphate dehydrogenase (G6PD), and adenosine deaminase (ADA) in the serum of treated patients by 73% , 53%, 8%, 9%, and 54%, respectively, compared with the healthy children group. Also, the results showed significant increases in the activities of G6PD and ADA in the red blood cells (RBCs) of the patients by 7% and 43%, respectively, compared with the control group.
When determining the genetic variation of the β-globin gene depending on the PCR technique, the results did not show any genetic variation in the size of PCR band. However, the results of the sequencing showed variations in the nucleotides that included the conversion of the nucleotides (A) to (C) in position (250), (T) to (C) in position (426), (C) to (A) in position (623), (G) to (A) in position (630), and (T) to (A) in position (724). Also, the results demonstrated the detection of three transversion mutations and two transition mutations in β-globin gene in the children with β-thalassemia.
