Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia

作者：Ventz R^*; Hundemer M; Witzens Harig M; Lehmann B; Felbor U; Najm J

来源：Internist, 2013, 54(6): 765-768.

DOI：10.1007/s00108-013-3284-x

• Thrombocytopenia 2
• ANKRD26
• Hereditary diseases
• Blood platelets
• DNA sequencing

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.

• 出版日期2013-6