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<p>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 the existence of compound mutations of VWF (von Willebrand factor) gene, inherited separately from her parents. Interestingly, her mother presented decreased VWF antigen and activity, but that was not found in her father.</p>

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A rare case of type 2A von Willebrand disease with compound heterozygous mutation

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月29日

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  • Li-jing Wang,
  • Qi Gao,
  • Bo Pang,
  • Tao Wu,
  • Xuyang Zhang,
  • Hansheng Fang,
  • Haidan Chen,
  • Huili Cai

摘要

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 the existence of compound mutations of VWF (von Willebrand factor) gene, inherited separately from her parents. Interestingly, her mother presented decreased VWF antigen and activity, but that was not found in her father.