A POTEntial new gene for thrombocytopenia.

摘要

Inherited syndromes are relatively rare causes of thrombocytopenia, but elucidation of the genes underlying these disorders can provide valuable insights into mechanisms of megakaryopoiesis. In addition, some inherited syndromes predispose to the development of bone marrow failure or leukemia, and thus accurate diagnosis is important for clinical management and counseling. However, identification of the cause of thrombocytopenia in individual families can be difficult and genetic testing is not always readily available. A practical approach to diagnosis starts with evaluation of platelet size and morphology, refining the differential using apparent pattern of inheritance and associated features (see figure). For example, boys with thrombocytopenia and small platelets, with or without eczema and immune defects, should be evaluated for defects in the Wiskott Aldrich Syndrome protein (WASp) gene.