Can Different Genetic Mutations be the Possible Cause for Thrombocytosis in Children with Beta Thalassemia Major?

Abstract

Objective: To investigate the primary cause of thrombocytosis observed in children suffering from Thalassemia major in Pakistan.

Methodology: A cohort study was carried out at the Armed Forces Institute of Transfusion (AFIT) Rawalpindi from June to December 2020 after obtaining permission from its Ethical Review Committee. A total of 41 children with Thalassemia major, presenting persistent platelet counts ? 1000 x 10^9/l for three months, underwent a revised transfusion protocol and iron overload chelation. After six months of observation and chelation, patients with persistent thrombocytosis were further analyzed for BCR ABL1, JAK2 V617F, CAL-R, and MPN-1 mutations. Data analysis was conducted using IBM SPSS 21.

Results: Following transfusion revision and chelation, 73% of patients achieved normal platelet counts, accompanied by significant improvements in Hb levels, WBC count, ferritin levels, and platelet count. However, 27% of patients with persistent thrombocytosis showed no mutations in BCR ABL1, JAK2 V617F, CAL-R, and MPN-1 genes.

Discussion: The study suggests a potential correlation between thrombocytosis in Thalassemia major and iron deficiency, with 73% of patients responding positively to transfusion revision and chelation. However, for the remaining 27%, the cause of thrombocytosis remains elusive, necessitating further in-depth investigations with a larger sample size.

Conclusion: The research highlights the need for comprehensive studies to elucidate the underlying causes of thrombocytosis in children with Thalassemia major, especially in cases where conventional interventions such as transfusion revision and chelation do not yield conclusive results