Congenital sideroblastic anemia with vacuolated bone marrow precursors secondary to SLC25A38 mutation—A great mimicker of Pearson syndrome.

The article describes a case study of an eight-year-old girl with transfusion-dependent anemia diagnosed with congenital sideroblastic anemia due to a mutation in the SLC25A38 gene, leading to defective heme synthesis and ring sideroblast formation. Topics include the clinical features and genetic basis of congenital sideroblastic anemia, the significance of SLC25A38 mutations, and differential diagnosis involving bone marrow findings such as vacuolations.