title: [Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia].
abstract: A 62-year-old woman presented with severe, isolated thrombocytopenia. Due to the positive family history and normal thrombocyte morphology ANKRD26-associated thrombocytopenia 2 (THC2) was suspected. The diagnosis was confirmed by DNA sequencing. Although this is the first case report on THC2 in Germany, we anticipate that THC2 might be a frequent cause of hereditary thrombocytopenia. A specific therapy was not necessary, but would consist of platelet supplementation.
authors.affiliation: Medizinische Klinik II, Klinikum Worms gGmbH, Gabriel-von-Seidl-Str. 81, 67550, Worms, Deutschland. r.ventz@email.de
authors.forename: R
authors.initials: R
authors.lastname: Ventz
authors.forename: M
authors.initials: M
authors.lastname: Hundemer
authors.forename: M
authors.initials: M
authors.lastname: Witzens-Harig
authors.forename: B
authors.initials: B
authors.lastname: Lehmann
authors.forename: U
authors.initials: U
authors.lastname: Felbor
authors.forename: J
authors.initials: J
authors.lastname: Najm
mesh_terms: D019457:Chromosome Breakage; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D006474:Hemorrhagic Disorders / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics