Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare form of early-onset thrombocytopenia with pancytopenia.


Chromosome location: 1p34


Gene: myeloproliferative leukemia virus oncogene (MPL), which encodes a thrombopoietin (TPO) receptor



(1) thrombocytopenia and megakaryocytopenia appearing at an early age

(2) variable absence of physical anomalies and dysmorphic features

(3) elevated serum thrombopoietin concentration

(4) hypoplastic marrow with absence of dysplastic change

Type (King et al)


Type I

more severe with early onset of severe pancytopenia with very low platelet counts and decreased bone marrow activity, associated with complete loss of gene function

Type II

less severe thrombocytopenia with transient increases; bone marrow failure at age 3 years or later


A hematopoietic stem cell transplant (HSCT) is effective therapy.


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