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<p>A 24-year-old male with α-thalassemia was found to have extensive sheets of pseudo-Gaucher histiocytes on bone marrow examination, mimicking true Gaucher disease. The diagnosis was excluded by normal enzyme activity. This case highlights a rare, prominent histiocytic proliferation in thalassemia and underscores the necessity for comprehensive evaluation to differentiate reactive processes from true storage disorders.</p>

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True Gaucher’s Disease or Pseudo-Gaucher Presentations

  • 期刊论文

  • 发表日期：

    2025年11月6日

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  • Hongwei Chen,
  • Li Yang

摘要

A 24-year-old male with α-thalassemia was found to have extensive sheets of pseudo-Gaucher histiocytes on bone marrow examination, mimicking true Gaucher disease. The diagnosis was excluded by normal enzyme activity. This case highlights a rare, prominent histiocytic proliferation in thalassemia and underscores the necessity for comprehensive evaluation to differentiate reactive processes from true storage disorders.