Congenital amegakaryocytic thrombocytopenia: The diagnostic importance of combining pathology with molecular genetics

Abstract excerpt

Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare bone marrow failure syndrome that presents with isolated thrombocytopenia within the first year of life. Classic diagnostic bone marrow findings reveal absent or significantly decreased megakaryocytes with otherwise normal marrow cellularity. We present a newborn with thrombocytopenia whose initial bone marrow aspirate showed an appropriate number of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Blood disorders and treatments
• Share to Blood groups and transfusion
• Share to Platelet Disorders and Treatments