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Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.

Annals of hematology - 1 Oct 2024

Dongerdiye Rashmi, Kedar Prabhakar S, Saptarshi Arati, Sampagar Abhilasha, Shanmukhaiah Chandrakala, Mudaliar Sangeeta, Kanvinde Purva, Desai Mukesh, Madkaikar Manisha

Abstract excerpt

Sideroblastic anaemias are a diverse group of congenital and acquired bone marrow failure disorders marked by the presence of ring sideroblasts, ineffective erythropoiesis, and systemic iron overload. Congenital Sideroblastic anaemia (CSA) is mainly caused by gene mutations associated with heme synthesis, iron-sulfur [Fe-S] cluster, and mitochondrial protein synthesis pathways. The most prevalent form of CSA is...

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PMID: 39196378
DOI: 10.1007/s00277-024-05969-5

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