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

A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia.

Haematologica - 1 Nov 2005

Frischknecht Hannes, Kiewitz Roland, Schmugge Markus

Abstract excerpt

A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.

Read the complete abstract on PubMed

Topics

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

Share to beta-Thalassemia
Share to Child, Preschool
Share to Codon

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to DNA Mutational Analysis

Share to Frameshift Mutation

Share to Globins

Share to Mutagenesis, Insertional

Source

Identifiers

PMID: 16266911

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia.PMID 16266911Read ↗

Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.Semantic proximity Read ↗

Hb G-Makassar [beta6(A3)Glu-->Ala; codon 6 (GAG-->GCG)]: molecular characterization, clinical, and hematological effects.Semantic proximity Read ↗

Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa.Semantic proximity Read ↗

β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].Semantic proximity Read ↗

Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis.Semantic proximity Read ↗

A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia.Semantic proximity Read ↗

Identification of a compound beta-thalassemia homozygosity [codon 10 (GCC-->GCA) and codon 16 (-C)] in an Afghan family.Semantic proximity Read ↗

IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.Semantic proximity Read ↗

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