Introduction: β-thalassemia major is a common inherited hemoglobin disorder worldwide, characterized by shortened red cell survival, defective hemoglobin synthesis, resulting in hemolytic anemia, ineffective erythropoiesis, severe anaemia, hypoxia, and hepatosplenomegaly. This study aimed to evaluate the occurrence of the JAK2 V617F mutation and JAK2 polymorphism in β-thalassemia patients compared to non-β-thalassemia controls. Additionally, the relationship between JAK2 mutations/polymorphisms and specific clinical and hematological parameters was investigated.
Methods: This was a case-control study involving 71 participants, comprising 51 individuals with β-thalassemia major (patient group) and 20 healthy individuals matched for age and gender (control group). Hematological parameters were measured using an automated analyzer. Venous blood samples were collected with EDTA anticoagulant and stored at 4 °C for subsequent detection of JAK2 V617F mutation using DNA sequencing methods.
Results: Analysis of β-thalassemia patients receiving regular blood transfusions revealed significantly lower levels of red blood cells (RBCs), packed cell volume (PCV), hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and higher levels of white blood cells (WBC) and ferritin compared to the control group. However, the JAK2 V617F mutation was not detected in any patients or controls. The most common genotype observed in β-thalassemia patients was TC (52.94%), followed by the TT genotype, but this did not show significant associations with clinical and hematological parameters. However, there were significant differences in the frequencies of genotypes of the rs12343867 polymorphism between patients and controls.
Conclusion: The study did not find evidence supporting the role of JAK2 V617F mutation in the development or clinical course of β-thalassemia. Furthermore, the mutation was not detected in the normal subjects either. The frequency of JAK2 gene polymorphism did not significantly differ between thalassemia patients and normal subjects, and different genotypes of the gene polymorphism did not show associations with demographic, clinical, or hematological parameters.
