Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

Abstract excerpt

Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which evolves into generalized bone marrow aplasia during childhood. Although CAMT is genetically heterogeneous, mutations of MPL, the gene encoding for the receptor of thrombopoietin (THPO), are the only known disease‐causing alterations. We identified a family with...

Topics

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

• Share to Blood groups and transfusion
• Share to Blood properties and coagulation
• Share to Platelet Disorders and Treatments