Frequency of Thiopurine Methyltransferase Gene Polymorphism in Acute Lymphoblastic Leukemia

Abstract

Objective: To determine the frequency of TPMT gene polymorphism in patients presenting with ALL at NIBD.

Methodology: A cross sectional study was done at the department of Hematology National Institute of Blood Diseases (NIBD) Karachi, from 15th March 2021 to 15th September 2021. A total of 60 patients of either sex presenting within duration of 2 months of diagnosis of ALL were included in the study. Blood samples of all the patients were drawn by senior laboratory technician and sent for Cytogenetic study as well as polymerase chain reaction to identify different alleles of thiopurine methyltransferase gene. The data was entered and analyzed using SPSS version 21. Frequencies and percentages were calculated for categorical variables such as gender, drug toxicity, and allelic variation (TPMT).

Results: Age range in this study was from 14 to 60 years with mean age of 25.733±14.62 years and mean duration of disease was 1.56±0.49 months. Male patients were 80% and females were 20% in this study. Variant TPMT alleles were observed in 10% patients.

Conclusion: The study revealed a 10% frequency of major polymorphisms in 6-MP metabolizing enzymes among Pakistani patients with ALL.