title: MPL Baltimore mutation and thrombocytosis: case report and literature review.
abstract: Thrombocytosis is a common finding and is a frequent cause of referral for further investigation. The MPL Baltimore (Lys39Asn) mutation has been reported as a cause of thrombocytosis in 7% of African Americans. We describe an 11-month-old Ethiopian Jewish boy referred for evaluation of thrombocytosis who was found to be homozygous for MPL Baltimore. So far, there is no indication whether patients with thrombocytosis who have this mutation, particularly homozygotes, are at increased risk of thrombotic or hemorrhagic complications. Nevertheless, this entity should be considered in the differential diagnosis of every patient with thrombocytosis, particularly those of African origin.
authors.affiliation: Department of Pediatric Hematology-Oncology, Schneider Children's Medical Center of Israel.
authors.forename: Vered
authors.initials: V
authors.lastname: Shkalim-Zemer
authors.forename: Orly
authors.initials: O
authors.lastname: Dgany
authors.forename: Tanya
authors.initials: T
authors.lastname: Krasnov
authors.forename: Joanne
authors.initials: J
authors.lastname: Yacobovich
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
mesh_terms: D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D012196:Review Literature as Topic; D013922:Thrombocytosis / Q000235:genetics* / Q000473:pathology
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human