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Article

Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.

Free radical biology & medicine - 1 Mar 2019

Fujiwara Tohru, Harigae Hideo

Abstract excerpt

Sideroblastic anemia is a heterogeneous congenital and acquired disorder characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations in genes involved in the heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein synthesis. The most prevalent form of CSA is X-linked sideroblastic...

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Source

Identifiers

PMID: 30098397
DOI: 10.1016/j.freeradbiomed.2018.08.008

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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