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<p>Ghosal haematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by bone marrow failure and diaphyseal bone sclerosis caused by mutations in the TBXAS1 gene. Corticosteroids are considered first-line therapy but long-term use is associated with significant adverse effects. Recent studies suggest that non-steroidal anti-inflammatory drugs (NSAIDs) may correct the underlying metabolic imbalance by inhibiting cyclooxygenase (COX) activity. We report five patients with genetically confirmed GHDD harboring the homozygous TBXAS1 variant c.1235G&gt; A (p.Arg412Gln). Four patients received low-dose aspirin therapy either alone or in combination with other agents. All treated patients demonstrated rapid hematologic improvement, achieving transfusion independence at a median of 2 months. Resolution of bone pain and splenomegaly was also observed. Two patients relapsed after discontinuation of therapy; one regained remission upon re-initiation of aspirin. Our findings highlight the importance of molecular diagnosis using next- generation sequencing (NGS) in patients with unexplained cytopenias and marrow fibrosis. Targeting the thromboxane pathway with low-dose aspirin represents a simple, effective, and well-tolerated therapeutic strategy in GHDD.</p>

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Aspirin for the Treatment of Ghosal Haematodiaphyseal Dysplasia

  • 期刊论文

  • 发表日期：

    2026年5月4日

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  • Yash Patel,
  • Sabir Shaikh,
  • Uday Kulkarni,
  • Sushil Selvarajan,
  • Madhavi Maddali,
  • Sathya Mani,
  • Alpeshkumar Kapadia,
  • Sharon Lionel,
  • N. A. Fouzia,
  • Anu Korula,
  • Poonkuzhali Balasubramanian,
  • Biju George,
  • Aby Abraham,
  • Vikram Mathews

摘要

Ghosal haematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by bone marrow failure and diaphyseal bone sclerosis caused by mutations in the TBXAS1 gene. Corticosteroids are considered first-line therapy but long-term use is associated with significant adverse effects. Recent studies suggest that non-steroidal anti-inflammatory drugs (NSAIDs) may correct the underlying metabolic imbalance by inhibiting cyclooxygenase (COX) activity. We report five patients with genetically confirmed GHDD harboring the homozygous TBXAS1 variant c.1235G> A (p.Arg412Gln). Four patients received low-dose aspirin therapy either alone or in combination with other agents. All treated patients demonstrated rapid hematologic improvement, achieving transfusion independence at a median of 2 months. Resolution of bone pain and splenomegaly was also observed. Two patients relapsed after discontinuation of therapy; one regained remission upon re-initiation of aspirin. Our findings highlight the importance of molecular diagnosis using next- generation sequencing (NGS) in patients with unexplained cytopenias and marrow fibrosis. Targeting the thromboxane pathway with low-dose aspirin represents a simple, effective, and well-tolerated therapeutic strategy in GHDD.