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

doi:10.1007/BF00208968

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Article

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

Human genetics - 1 Apr 1995

Prades E, Chambon C, Dailey T A, Dailey H A, Brière J, Grandchamp B

Abstract excerpt

X-linked sideroblastic anemia is a genetic disorder characterized by a hypochromic microcytic anemia of variable intensity with the presence of ring sideroblasts in the bone marrow of the patients. Two different mutations have been reported in the ALAS2 gene in patients with this disease. We have studied a large kindred with a pyridoxine-sensitive form of X-linked sideroblastic anemia. Sequencing amplified cDNA...

Topics

Adolescent
Alleles
Anemia, Sideroblastic
Base Sequence
DNA
DNA Mutational Analysis
DNA Primers
Escherichia coli
Female
Gene Expression
Genetic Linkage
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 7705839
DOI: 10.1007/BF00208968

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7705839-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.PMID 7705839Read ↗

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