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

Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.

Hemoglobin - 1 Jun 2010

Broquere Cédrick, Brudey Karine, Harteveld Cornelis L, Saint-Martin Christian, Elion Jacques, Giordano Piero C, Romana Marc

Abstract excerpt

We present the hematological characteristics of five patients from Surinam and the bordering French Guyana, who are carriers of the rare beta-thalassemia (beta-thal) mutation HBB:c.315+1G>T. Analysis of the phenotype/genotype relationship shows that this allele is a beta(0)-thal variant and illustrates the modulating effect of the alpha-globin gene status on the beta-thal phenotype. The ethnic origin of the five...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to beta-Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HBB gene

Share to Phenotype

Share to Point Mutation

Share to RNA Splice Sites

Share to Young Adult

Source

Identifiers

PMID: 20524821
DOI: 10.3109/03630269.2010.484956

Genes

HBB

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

Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.PMID 20524821Read ↗

Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.Semantic proximity Read ↗

A different molecular pattern of beta-thalassemia mutations in northeast Brazil.Semantic proximity Read ↗

Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.Semantic proximity Read ↗

Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece.Semantic proximity Read ↗

Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration.Semantic proximity Read ↗

Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio.Semantic proximity Read ↗

A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia.Semantic proximity Read ↗

Haplotypes linked to three rare beta-thalassemia mutations, originally reported in Tunisia.Semantic proximity Read ↗

The beta-thalassemia mutation/haplotype distribution in the moroccan population.Semantic proximity Read ↗

Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSI nt 5 (G-C) mutation.Semantic proximity Read ↗

The spectrum of beta thalassaemia in Burma.Semantic proximity Read ↗

A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases.Semantic proximity Read ↗

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