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Article

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.

Blood cells, molecules & diseases - 1 Jan 2000

Aivado Manuel, Gattermann Norbert, Rong Astrid, Giagounidis Aristoteles A N, Prall Wolf C, Czibere Akos, Hildebrandt Barbara, Haas Rainer, Bottomley Sylvia S

Abstract excerpt

Historically X-linked sideroblastic anemia, with rare exceptions, was thought to be manifested only in males. Since the discovery of the erythroid-specific isoform of 5-aminolevulinate synthase (ALAS2) and the cloning of its gene (ALAS2) 15 years ago, mutation analysis has revealed that clinical expression of this X-linked disorder is prevalent in females as well. However, presence of the disease in both genders...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Erythroid Precursor Cells

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Source

Identifiers

PMID: 16735131
DOI: 10.1016/j.bcmd.2006.04.003

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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