Aggregates of non-muscle myosin IIA in the erythrocytes associate with GATA1-related thrombocytopenia

Introduction GATA1-related thrombocytopenia (GATA1-RT) is a rare X-linked inherited platelet disorder (IPD) characterized by reduced blood platelets, enlarged platelets, and dyserythropoietic features due to mutations in the GATA binding protein 1 (GATA1), which serves as transcription factor for either megakaryopoiesis and erythropoiesis [1]. We have established an immunofluorescence-based method for phenotyping platelets on the blood smear, which we have proposed as a screening tool for 10 different forms of IPD, for which typical changes of platelet structure can be detected [2] [3]. For GATA1-RT, no specific morphologic changes, which can be recognized by immunofluorescence on the blood smear, have been reported so far.