Novel frameshift variant (c.409dupG) in is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.

Aims: Congenital sideroblastic anaemias (CSAs) are a group of rare disorders with the presence of ring sideroblasts in the bone marrow. Pathogenic variants are inherited in an autosomal recessive/X-linked fashion. The study was aimed at characterising the spectrum of mutations in and genes in sideroblastic anaemia patients, exploring the genotype-phenotype correlation and identifying the haplotype associated with any recurrent mutation.

Patients And Methods: Twenty probable CSA patients were retrospectively analysed for genetic variants in and genes by direct bidirectional sequencing. Real-time PCR was used to quantify gene expression in a case with promoter region variant in . Three single nucleotide polymorphisms were used to establish the haplotype associated with a recurrent variant in the gene.

Results: Six patients had causative variants in (30%) and 11 had variants in (55%). The mutated cases presented at a significantly later age than the cases. A frameshift variant in (c.409dupG) was identified in six unrelated patients and was a common variant in our population exhibiting 'founder effect'.

Conclusion: This is the largest series of sideroblastic anaemia cases with molecular characterisation from the Indian subcontinent.