The correlation between overexpression of GATA-1 variants valine 205 methionine and R216Q with occurrence, prognosis, and therapeutic approaches for immune thrombocytopenic purpura

Objective: Immune thrombocytopenic purpura (ITP) is an autoimmune disorder that is characterized by symptoms of hemorrhage and thrombocytopenia due to the production of autoantibody against platelet glycoproteins. The occurrence of gene defects caused by mutation has been recently identified as a main factor in the onset of megakaryocytic disease. Materials and Methods: To conduct this study, 140 patients and controls with no history of platelet disorders were selected. After the collection of samples, the prevalence of GATA-1 gene mutations was evaluated using polymerase chain reaction technique, which was confirmed by sequencing. Result: The results revealed no significant information on the occurrence of valine 205 methionine (V205M) and R216Q variants in ITP patients. However, data analysis indicated clinically significant differences between control group and ITP patients in some hematological parameters such as red blood cell, hemoglobin, hematocrit, and lymphocyte count. Conclusion: V205M and R216Q mutations were not detected in ITP patients.