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Article

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.

Journal of clinical pathology - 1 Mar 2021

Ravindra Niveditha, Athiyarath Rekha, S Eswari, S Sumithra, Kulkarni Uday, N A Fouzia, Korula Anu, Shaji Ramachandran V, George Biju, Edison Eunice Sindhuvi

Abstract excerpt

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 SLC25A38 and ALAS2 genes in sideroblastic anaemia patients, exploring the genotype-phenotype correlation and identifying the haplotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32605921
DOI: 10.1136/jclinpath-2020-206647

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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