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Allogeneic hematopoietic stem cell transplantation in a case of congenital sideroblastic anemia with SLC25A38 mutation
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  • Cong Wei,
  • Jun Wu,
  • Xiaoting Zhang,
  • Dan Liang,
  • Jilong Yang,
  • Ruge Chen,
  • Lan Deng,
  • Chunyan Yue
Cong Wei
Zhujiang Hospital
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Jun Wu
Zhujiang Hospital
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Xiaoting Zhang
Zhujiang Hospital
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Dan Liang
Zhujiang Hospital
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Jilong Yang
Zhujiang Hospital
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Ruge Chen
Zhujiang Hospital
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Lan Deng
Shanghai Jiao Tong University School of Medicine Affiliated Ninth People's Hospital
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Chunyan Yue
Zhujiang Hospital

Corresponding Author:[email protected]

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Abstract

Congenital sideroblastic anemia (CSA) is a rare genetic disease. SLC25A38 encodes a member of the mitochondrial membrane carrier protein family. Mutations in SLC25A38 have been found to be an important cause of transfusion-dependent CSA. Evidence-based medical treatment guidelines for CSA remain lacking, and hematopoietic stem cell transplantation (HSCT) is currently the only proven curative therapy for this disease. In this report, we successfully cure a 6-year-old patient with SLC25A38 mutation. Our patient underwent HSCT from a human leukocyte antigen (HLA)-identical unrelated donor, his hematopoiesis was reconstructed, anemia was corrected, and thereby the patient achieved long-term survival.