De novo hemizygous P.Arg204Leu mutation in ALAS2 Gene in young Indian male with X-linked sideroblastic anemia: A case report

Introduction: Congenital sideroblastic anemia is a heterogeneous disorder characterized by ineffective erythropoiesis and microcytic hypochromic anemia. The phenotypic expression of CSA is variable and the most common form is X-linked, caused by mutations of delta- aminolevulinic acid synthase 2 (ALAS2).We report a novel missense mutation in the ALAS2 gene in a young Indian male patient. Case details: A 19 year old gentleman presented with severe anemia. Bone marrow revealed ringed sideroblasts and clinical exome sequencing revealed a novel mutation (p.Arg204Leu) of ALAS2 gene. Discussion: More than 100 pathogenic variants in ALAS2 gene have been reported till date. In our case, one novel missense pathogenic variant was identified in Exon 5 which resulted in the amino acid substitution of Leucine for Arginine at codon 204, which responded well to pyridoxine. Conclusion : Our case adds to the XLSA pathogenic variant database and expands the number of cases of the rare disease.