title: Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene.
abstract: Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL). The association between CAMT and c-MPL mutation type has been reported in the literature. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients. Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.
authors: Ankara Children's Hematology Oncology Hospital, Clinic of Pediatric Hematology, Ankara, Turkey Phone: +90 312 396 99 70 E-mail: ikbalok@yahoo.com.
authors: İkbal
authors: İ
authors: Ok Bozkaya
authors: Neşe
authors: N
authors: Yaralı
authors: Pamir
authors: P
authors: Işık
authors: Rukiye
authors: R
authors: Ünsal Saç
authors: Betül
authors: B
authors: Tavil
authors: Bahattin
authors: B
authors: Tunç
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D000080984:Congenital Bone Marrow Failure Syndromes; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000209:etiology*; D020125:Mutation, Missense; D010198:Pancytopenia / Q000209:etiology; D017354:Point Mutation; D053628:Receptors, Thrombopoietin / Q000172:deficiency / Q000235:genetics*; D013921:Thrombocytopenia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013926:Thrombopoietin / Q000097:blood
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D013926:Thrombopoietin