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<p>Severe aplastic anemia is a life-threatening ineffective hematopoiesis, arising from inherited or acquired traits. Wilson disease is a rare congenital metabolic disorder with copper accumulation. Here we report a rare case of a 15-year-old boy, who presented with bone marrow failure. Whole exome sequencing revealed several gene mutations in ATP7B and TERT. Based on the phenotypes, telomere lengths and pedigree of his family, the patient was diagnosed with severe aplastic anemia accompanied by Wilson disease. Allogeneic hematopoietic stem cell transplantation and anti-copper therapy helped him achieve transfusion independence and restore relatively normal copper metabolism. We discussed the possible associations between the two rare conditions and optimal management in this situation.</p>

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From severe aplastic anemia with TERT variant to Wilson disease - associations or not

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月21日

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  • Tong Chen,
  • Jia Song,
  • Limin Xing,
  • Jin Chen,
  • Xifeng Dong,
  • Lijuan Li,
  • Junfeng Yang,
  • Wentian Liu,
  • Zonghong Shao,
  • Rong Fu

摘要

Severe aplastic anemia is a life-threatening ineffective hematopoiesis, arising from inherited or acquired traits. Wilson disease is a rare congenital metabolic disorder with copper accumulation. Here we report a rare case of a 15-year-old boy, who presented with bone marrow failure. Whole exome sequencing revealed several gene mutations in ATP7B and TERT. Based on the phenotypes, telomere lengths and pedigree of his family, the patient was diagnosed with severe aplastic anemia accompanied by Wilson disease. Allogeneic hematopoietic stem cell transplantation and anti-copper therapy helped him achieve transfusion independence and restore relatively normal copper metabolism. We discussed the possible associations between the two rare conditions and optimal management in this situation.