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Background <p>May-Hegglin anomaly, a rare autosomal dominant disorder caused by <i>MYH9</i> mutations, is characterized by the classic "triad" of thrombocytopenia, giant platelets, and granulocyte cytoplasmic inclusion bodies; some patients also present non-hematological symptoms.</p> Results <p>We reported a family of <i>MYH9</i>-related disease. The proband had microscopic hematuria, proteinuria, and thrombocytopenia on physical examination; blood smear re-examination showed giant platelets and Döhle-like bodies. His medical history included childhood epistaxis; his father had unexplained thrombocytopenia/proteinuria, and his younger brother had epistaxis/purpura/thrombocytopenia. Whole-exome sequencing (validated by Sanger sequencing) confirmed the diagnosis.</p> Conclusions <p>Diagnosis of <i>MYH9</i>-related diseases depends on combined laboratory morphology and molecular biology. Routine blood tests and smear microscopy (identifying abnormal giant platelets/Döhle-like bodies) provide initial screening clues, while gene sequencing enables accurate diagnosis and pathogenesis clarification, forming a complete screening-to-confirmation diagnostic pathway.</p>

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A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月28日

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  • Xia Yan,
  • Zhenzhen Li,
  • Shaojun Huang,
  • Xiaoxia Yang,
  • Ming Chang,
  • Zhengjiang Cheng,
  • Lan-Ting Zhou

摘要

Background

May-Hegglin anomaly, a rare autosomal dominant disorder caused by MYH9 mutations, is characterized by the classic "triad" of thrombocytopenia, giant platelets, and granulocyte cytoplasmic inclusion bodies; some patients also present non-hematological symptoms.

Results

We reported a family of MYH9-related disease. The proband had microscopic hematuria, proteinuria, and thrombocytopenia on physical examination; blood smear re-examination showed giant platelets and Döhle-like bodies. His medical history included childhood epistaxis; his father had unexplained thrombocytopenia/proteinuria, and his younger brother had epistaxis/purpura/thrombocytopenia. Whole-exome sequencing (validated by Sanger sequencing) confirmed the diagnosis.

Conclusions

Diagnosis of MYH9-related diseases depends on combined laboratory morphology and molecular biology. Routine blood tests and smear microscopy (identifying abnormal giant platelets/Döhle-like bodies) provide initial screening clues, while gene sequencing enables accurate diagnosis and pathogenesis clarification, forming a complete screening-to-confirmation diagnostic pathway.