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Case Report Volume 13 Issue 1
Challenge of care in Pyridoxine refractory sideroblastic anaemia with SLC 25A38 mutation: a case report
Khadija Essrifi, , Hicham Eddou,
Received: July 31, 2025 | Published: August 14, 2025
Citation: Essrifi K, Eddou H. Challenge of care in Pyridoxine refractory sideroblastic anaemia with SLC 25A38 mutation: a case report. Hematol Transfus Int J. 2025;13(1):27-29. DOI: 10.15406/htij.2025.13.00347
Abstract
Congenital sideroblastic anaemia (CSA) is a genetic disease linked to several mutational profiles. Mutations in the SLC25A38 gene are responsible for the second most common form of CSA. This form is refractory to pyridoxine and characterised by dependence on blood transfusions. The clinical presentation is non-specific with a variety of iron overload complications. Medical treatment guidelines for CSA remain lacking, and Allogeneic hematopoietic stem cell transplantation (AHSCT) is currently the only proven curative therapy. We report a case of an 18-year-old patient who was diagnosed with pyridoxine refractory anaemia at the age of two. A homozygous recessive mutation of the SLC 25A38 gene was found. The patient is receiving transfusions and iron chelation therapy. The AHSCT has not been performed for condition requirements.
Keywords: s: SLC25A38 gene mutation, sideroblastic anemia, transfusion, iron overload, ahsct
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