Pathophysiology and genetic mutations in congenital sideroblastic anemia.

doi:10.1111/ped.12217

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Article

Pathophysiology and genetic mutations in congenital sideroblastic anemia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Dec 2013

Fujiwara Tohru, Harigae Hideo

Abstract excerpt

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

Topics

Anemia, Sideroblastic
Child
Genetic Diseases, X-Linked
Humans
Mutation

Source

Open in PubMed

Identifiers

PMID: 24003969
DOI: 10.1111/ped.12217

Genes

ABCB7
ALAS2
GLRX5
PUS1
YARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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