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Article

Recent advances in the understanding of inherited sideroblastic anaemia.

British journal of haematology - 1 Oct 2008

Camaschella Clara

Abstract excerpt

Sideroblastic anaemia includes a heterogeneous group of rare conditions, characterized by decreased haem synthesis and mitochondrial iron overload, which are diagnosed by the presence of ringed sideroblasts in the bone marrow aspirate. The most frequent form is X-linked sideroblastic anaemia, caused by mutations of delta-aminolevulinic acid synthase 2 (ALAS2), the enzyme that catalyses the first and regulatory...

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Source

Identifiers

PMID: 18637800
DOI: 10.1111/j.1365-2141.2008.07290.x

Genes

ALAS2
ABCB7
GLRX5

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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