Thrombocytopenia, anemia, and myelofibrosis

An inherited thrombocytopenia caused by a variation in the MPIG6B gene, which impairs the inhibitory signaling of the G6b-B receptor on megakaryocytes and platelets, characterized by thrombocytopenia, variable anemia, and progressive bone-marrow fibrosis, often with splenomegaly and abnormal platelet activation and megakaryocyte maturation.