IDENTIFICATION OF COMMON MUTATIONS IN PATIENTS WITH BETA-THALASSEMIA MAJOR AT LIAQUAT UNIVERSITY OF MEDICAL AND HEALTH SCIENCES JAMSHORO/ HYDERABAD

OBJECTIVE: To determine the common mutations in patients with Beta thalassemia major at LUMHS Jamshoro/Hyderabad, Sindh. MATERIAL AND METHODS: This cross sectional study was held in the department of Genetics and Molecular Biology/Pathology department at LUMHS Jamshoro, and Diagnostic and Research Laboratory, Hyderabad, Sindh from: 06-02-2015 to 06-08-2015. All Patients of Beta thalassemia major diagnosed on the basis of clinical history Hb Electrophoresis, and their parents Hb Electrophoresis were included. CBC was done for initial assessment. DNA extraction (Nucleic acid purification) was done with inorganic method. All specimen were tested through the modified technique of ARMS PCR as described by Newton et al, 1989 (10) . 1.5. RESULTS: Mean age of the patients was 11.02+3.93 years. 68.0% of affected were males. According to this study mean of Serum Ferritin, Haemoglobin, HbA2, HbF and HbA levels were found as 2824.39+300.60ng/ml, 7.52+1.67 gm/dl, 4.05+0. 25ng/ml, 91.14+1.26ng/ml and 34.41+1.15 ng/ml respectively. Most common gene mutation found was IVS 1 - 5 (G-C) in 25% of the cases, following by the IVS 1 - 1 (G-T), Fr 8 – 9, CD 30 (G-A), Fr - 16 (-C), Fr 1 – 42, Del 619 and CD 5 (-CT). CONCLUSION: We concluded that the most common gene mutation were IVS 1 - 5 (G-C), IVS 1 - 1 (G-T), Fr 8 – 9, CD 30 (G-A), Fr - 16 (-C), Fr 1 – 42, Del 619 and CD 5 (-CT).