Amegakaryocytic thrombocytopenia, congenital, 2

A congenital amegakaryocytic thrombocytopenia caused by a variation in the THPO gene, which encodes thrombopoietin, characterized by infantile- or early childhood-onset thrombocytopenia with markedly reduced or absent megakaryocytes, often progressing to pancytopenia, aplastic anemia, and hypocellular bone marrow, with decreased or inappropriately normal serum thrombopoietin.