A rare case of type 2A von Willebrand disease with compound heterozygous mutation
- Published on 06/10/2025
- Reading time: 2 min.
Wang Li-jing 1,2, Gao Qi 3, Pang Bo 2, Wu Tao 2, Zhang Xuyang 1, Fang Hansheng 1, Chen Haidan 5, Cai Huili 1,4
1 https://ror.org/0419nfc77 Department of Hematology, The First College of Clinical Medical Science China Three Gorges University 443003 Yichang Hubei China
2 https://ror.org/04cgmg165 Department of Hematology The Sixth Hospital of Wuhan, Affiliated Hospital of Jianghan University Wuhan Hubei China
3 https://ror.org/011gh0524 Department of The Second Internal Medicine Hubei Provincial Corps Hospital of Chinese People’ s Armed Police Force Wuhan Hubei China
4 https://ror.org/0419nfc77 Department of Respiratory, The First College of Clinical Medical Science China Three Gorges University Yichang Hubei China
5 https://ror.org/0419nfc77 Department of Spinal Surgery, The First College of Clinical Medical Science China Three Gorges University Yichang Hubei China
Abstract
von Willebrand disease (VWD) is defined by a quantitative or qualitative deficiency of von Willebrand factor, which impairs platelet adhesion and aggregation. Here we describe a rare case of type 2A VWD with compound heterozygous mutation. A 27-year-old girl presented with oral bleeding for two days after dental surgery. A systemic physical examination turned up unremarkable. Type 2 von Willebrand disease was confirmed by laboratory tests. Further genetic investigation revealed...
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