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Article

X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.

European journal of haematology - 1 Jul 1998

Edgar A J, Vidyatilake H M, Wickramasinghe S N

Abstract excerpt

DNA sequencing of the coding region of the erythroid 5-aminolaevulinate synthase (ALAS2) cDNA from a male with pyridoxine-responsive sideroblastic anaemia revealed a missense mutation, a G561T transversion in exon 5 of the gene. Previously, the mutation G561A has been shown to be responsible for sideroblastic anaemia in females and thought to be lethal in males (1). The mutation G561T results in the loss of an...

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Source

Identifiers

PMID: 9688293
DOI: 10.1111/j.1600-0609.1998.tb01061.x

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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X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.PMID 9688293Read ↗

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New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.Semantic proximity Read ↗

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.Semantic proximity Read ↗

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.Semantic proximity Read ↗

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutationsSemantic proximity Read ↗

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Gene symbol: ALAS2. Disease: sideroblastic anaemia.Semantic proximity Read ↗

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