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Article

Onset of X-linked sideroblastic anemia in the fourth decade.

Haematologica - 1 Oct 2004

Cortesão Emília, Vidan Júlia, Pereira Janet, Gonçalves Paula, Ribeiro Maria Letícia, Tamagnini Gabriel

Abstract excerpt

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.

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Share to 5-Aminolevulinate Synthetase
Share to Anemia, Sideroblastic
Share to Erythropoiesis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15477213

Genes

ALAS2

Provenance

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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