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