Frequency of MPL (W515K) Gene Mutation among Sudanese Patients with Essential Thrombocythemia

Abstract

Background Essential thrombocythemia (ET) is an acquired clonal myeloproliferative neoplasm (MPNs) characterized by increased proliferation and maturation of megakaryocyte in bone marrow and sustain elevation in platelet number in circulation, with risk for transformation to acute leukemia and myelofibrosis. MPL (W515K) encodes for Thrombopoietin (TPO) receptor. MPL expression on megakaryocytes and platelets is essential to prevent megakaryocytosis and myeloproliferation by restricting the amount of TPO available to stimulate the production of megakaryocytes from progenitor cell pool. Mutation in (MPL W515) leading to receptor activation in the absence of thrombopoietin binding. Objective To determine the frequency of MPLW515K gene mutation in Sudanese patients with Essential Thrombocythemia. Methods This descriptive cross sectional study included 36 patients clinically diagnosed with Essential Thrombocythemia. Most of the patients were females. DNA was extracted from the blood samples and the mutant allele was assessed by allele specific PCR to detect the MPL W515K mutation. The collected data was analyzed by statistical package for social sciences (SPSS). Results This study included 36 patients; 12 (33%) of them were males and 24 (67%) were females; their mean age were 59 years. There was only one sample of a female patient positive for MPL W515K mutation. Conclusion This study showed that MPL W515K mutation among Sudanese patients with Essential Thrombocythemia is uncommon.