Novel mutations in a child with congenital amegakaryocytic thrombocytopenia
نویسندگان
چکیده
منابع مشابه
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disease presenting with isolated thrombocytopenia in infancy and developing into a pancytopenia in later childhood. Thrombopoietin (TPO) is the main regulator of thrombocytopoiesis and has also been demonstrated to be an important factor in early hematopoiesis. We analyzed 9 patients with CAMT for defects in TPO production and reactiv...
متن کاملScreening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism.
a therapeutic approach to children and adolescents with AML that leads to cure half of the time,. .. irrespective of the presence of a. .. family donor. " 1(p61) It is true that the presented event-free survival estimates for both the allogeneic BMT and chemotherapy groups receiving intensively timed induction therapy exceeded 50% (66% and 53%, respectively); this statement is misleading, howev...
متن کاملCongenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
BACKGROUND AND OBJECTIVES Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL). Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported ...
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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 identi...
متن کاملAcquired Amegakaryocytic Thrombocytopenia in a Child: A Very Rare Case
Acquired amegakaryocytic thrombocytopenic purpuria (AATP) is an unusual hematologic disorder characterized by thrombocytopenia resulting from an unexplained reduction in the number of bone marrow megakaryocytes in the presence of otherwise normal hematopoiesis in the bone marrow [1]. The exact prevalence of acquired amegakaryocytic thrombocytopenia is unknown due to its very rare incidence. Aro...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2006
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2006.06358.x