Congenital amegakaryocytic thrombocytopenia

Definition:

Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced by defective expression or function of the thrombopoietin (THPO) receptor caused by mutations in the MPL gene.

References:

[1]. Amy E Geddis, et al. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am. 2009 Apr;23(2):321-31. [Content Brief]

[2]. Amy E Geddis, et al. Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Semin Hematol. 2006 Jul;43(3):196-203. [Content Brief]

[3]. Anna Savoia, et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica. 2007 Sep;92(9):1186-93. [Content Brief]

[4]. Matthias Ballmaier, et al. Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Br J Haematol. 2009 Jun;146(1):3-16. [Content Brief]

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