Congenital Amegakaryocytic Thrombocytopenia (MPL)
Congenital amegakaryocytic thrombocytopenia is an autosomal recessive syndrome caused by pathogenic variants in the gene MPL. This disease is predominantly observed in the Ashkenazi Jewish population due to a founder mutation, although it has also been reported in non-Jewish populations. Clinical features include a congenital reduction of platelets and absence of megakaryocytes in the bone marrow, resulting in bone marrow failure and pancytopenia in childhood. Hematopoietic stem cell transplantation is currently the only curative therapy; however, 50% of patients will die before receiving a transplant or due to transplant complications. No genotype-phenotype correlation has been observed.
For information about carrier frequency and residual risk, please see the residual risk table.