Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.

Blood - 15 Dec 2000

Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop D F

Abstract excerpt

X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. An elderly woman who presented with an acquired sideroblastic anemia is studied. Molecular analysis revealed that she was heterozygous for a missense mutation in the ALAS2 gene, but she expressed only the mutated gene in reticulocytes. Her 2 daughters and a granddaughter were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5-Aminolevulinate Synthetase
Share to Anemia, Sideroblastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blood Transfusion

Share to Diagnostic Errors

Share to Dosage Compensation, Genetic

Share to Hematopoiesis

Share to Pyridoxine

Share to Thalassemia

Source

Identifiers

PMID: 11110715

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.PMID 11110715Read ↗

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

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

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutationSemantic proximity Read ↗

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemiaSemantic proximity Read ↗

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.Semantic proximity Read ↗

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.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 ↗

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.Semantic proximity Read ↗

A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia.Semantic proximity Read ↗

De novo hemizygous P.Arg204Leu mutation in ALAS2 Gene in young Indian male with X-linked sideroblastic anemia: A case reportSemantic proximity Read ↗

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

A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.