Abstract
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 patient with β - thalassemia major of both sexes, their ages ranged between ( 2 – 15 ), who registered in the Thalassemia Center at Ibn Al-Atheer Teaching Hospital for Children in the city of Mosul / Iraq and who are continuing treatment, after they were diagnosed by specialist doctors, as well as 30 healthy children of both sexes with same ages of the patients and it was considered as a control group.
 The results showed a significant increase (P≤0.05) in the activity of Alanine transaminase (ALT), Aspartate transaminase (AST), Alkaline phosphatase (ALP), Glucose 6- phosphate dehydrogenase (G6PD) and Adenosine deaminase (ADA) in the serum of treated children patients with β - Thalassaemia major by 73% , 53%, 8%, 9% and 54% respectively, compared with the healthy children group (control group). Also the results showed a significant increase in the activity of G6PD and ADA in the hemolysis of RBC of the same children patients by 7% and 43% compared with control group.
 When determining the genetic variation of the β-globin gene the result which depends on PCR technique did not show any genetic variation in the size of PCR band ,while the result of the sequencing showed variation in the nucleotides and included converted the nucleotide (A) to (C) in position (250) , change nucleotide (T) to (C) in position (426), replacement (C) nucleotide to (A) in position (623), change (G) nucleotide to (A) in position (630) and replacement (T) to (A) in the position (724), also the result detection three Transversion mutation and two transition mutation in β-globin gene in babies with β-thalassemia
Highlights
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 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
The results of this study are consistent with results of many previous studies, as they indicated increased activities of ALT and AST in the serum of patients with β - thalassaemia major [21,22,23,24,25]
Summary
This study included 65 children patients with β - thalassaemia major of both sexes (33 males and 32 females) with ages that ranged between 2 and 15 years, who registered in the Thalassemia Center at. Ibn Al-Atheer Teaching Hospital for Children in the city of Mosul. The patients were under continuous treatment after being diagnosed by specialist doctors depending on the laboratory tests of blood film, Hb – electrophoresis, and iron levels. 30 healthy children of both sexes with the same age range were included as a control group. Venous blood was collected and separated in two types of tubes; EDTA tubes for DNA extraction and anticoagulant-free jell tubes. The blood samples with hemolysis were neglected. Serum was separated and kept at -20 °C until analysis was performed
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