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Correspondence to Author: Arwa Abdulrahman Degnah¹, Afnan Hamadah Alharbi²,Yazeed Mansour Shawradiyyah³, Maram Abdullah⁴, Saja Ebraheem Mawlawi⁵, Afnan Abdulrahman Degnah⁶,Haneen Hassan Sembawa¹,Hams Ali Almalki ⁷,Turki Albarqi³, Wafaa Adam Mohammed Fakhraldeen³, Eatizaz Alotaibi⁸, Ayat Abdullah¹,Amnah Saleh Basendwa⁹, Nahid Kamal Eldin Babiker Abashar¹⁰, Namarig Kamal Eldin Babiker Abashar¹¹, Rehab Alhejaili¹,Rana Basabrin¹². 

1. Laboratory Department , Security forces hospital , Makkah, KSA.
2. Laboratory Department , Nahdicare clinic , Jeddah , KSA.
3. Laboratory Department , Hassan Ghazzawi Hospital, Jeddah , KSA
4. Laboratory Department , Samir Abbas Hospital, Jeddah , KSA
5. Molecular Biology Department , The University of Queensland, Australia
6. Laboratory Department , King Fahd Armed forces hospital , KSA
7. Laboratory Department , Tadawi Medical Hospital , Abha , KSA
8. Laboratory Department , Hematology unit, Dr. Soliman Fakeeh hospital, Jeddah , KSA
9. Toxicology Department , Colorado State University, Colorado, USA
10. Microbiology department, college of science, King Abdulaziz University, Jeddah, KSA.
11. Laboratory Department , Dr. Soliman Fakeeh hospital, Jeddah , KSA
12. Laboratory Department , National Guard Hospital, Jeddah , KSA

DOI: 10.52338/tajoh.2025.4551

Abstract:

Background:Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and 6-mercaptopurine (6-MP) is one of the significant drugs to cure ALL. However, 6-MP toxicity is individualized and influenced by genetic and environmental factors. Further study of genetic variants in Thiopurine Methyltransferase (TPMT) combined with environmental influence constitutes needed research about treatmentrelated toxicity.
Purpose: The study examines how genetic variants of TPMT affect 6-MP doses required for ALL patients
Methodology: In this study, the control group consisted of 100 healthy children, while the patient group comprised 100 children with newly diagnosed ALL in the maintenance phase of their treatment. Thiopurine Methyltransferase (TPMT) gene to identify genetic variants. The level of drug toxicity was determined by Complete Blood Count (CBC), Alanine Aminotransferase (ALT), Aspartate Aminotransferase (AST), and serum creatinine before and 6 months after switching to 6-MP therapy.
Results:The results show a significant decrease in hemoglobin (HB) and platelet count in patients before treatment and significant improvement after treatment. After treatment, AST and ALT levels were significantly increased, and the White Blood Cells (WBC) count decreased significantly. There were 13% heterozygous patients determined by TPMT genotyping.
Conclusion: TPMT genotype before the treatment will help to determine high-risk patients, and accordingly, the dose of 6-MP could be diminished to reduce the risk of toxicity caused by 6-MP.

Keywords:ALL, TPMT, genetic variants, 6MP, drug toxicity..

Citation:

Dr.Arwa Abdulrahman Degnah, The Significance Of Thiopurine Genetic Diversity In The Treatment Of Pediatric Acute Lymphoblastic Leukemia. The American Journal of Hematology 2025.