A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

doi:10.1182/blood-2002-06-1623

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Article

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Blood - 15 Jul 2003

Bekri Soumeya, May Alison, Cotter Philip D, Al-Sabah Ala I, Guo Xiaojun, Masters Gillian S, Bishop David F

Abstract excerpt

X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). XLSA was diagnosed in a 32-year-old woman with a mild phenotype and moderately late onset. Pyridoxine therapy had no effect in the proband, but in her affected son engendered a modest increase in hemoglobin concentration and a 4-fold reduction in ferritin iron. Molecular analysis...

Topics

5-Aminolevulinate Synthetase
Adult
Anemia, Sideroblastic
Base Sequence
Binding Sites
DNA
Erythroid Precursor Cells
Female
Genes, Reporter
Genetic Diseases, X-Linked
Hemochromatosis Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hemoglobins

Histocompatibility Antigens Class I

Humans

Isoenzymes

K562 Cells

Luciferases

Male

Source

Open in PubMed

Identifiers

PMID: 12663458
DOI: 10.1182/blood-2002-06-1623

Genes

ALAS2

Provenance

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

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A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.PMID 12663458Read ↗

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