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

beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.

British journal of haematology - 1 Oct 2001

Oner R, Oner C, Birben E, Sözen M, Gümrük F, Gürgey A, Altay C

Abstract excerpt

We provide the first description of a homozygote patient for the G-->A substitution in the 5' UTR of the beta-globin gene. The proband was a 17-year-old girl with beta-thalassaemia intermedia who had never received a blood transfusion. The physical examination revealed a well-developed women with no facial or bony abnormalities. There was mild paleness and mild splenomegaly which was 2 cm below the costal margin....

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Adolescent

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

Share to beta-Thalassemia

Share to Globins

Share to Heterozygote

Share to Homozygote

Share to Point Mutation

Share to Turkey

Source

Identifiers

PMID: 11722417
DOI: 10.1046/j.1365-2141.2001.03071.x

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 · 12 closest

beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.PMID 11722417Read ↗

A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia.Semantic proximity Read ↗

Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.Semantic proximity Read ↗

The G----A mutation at position +22 3' to the Cap site of the beta-globin gene as a possible cause for a beta-thalassemia.Semantic proximity Read ↗

Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.Semantic proximity Read ↗

First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population.Semantic proximity Read ↗

Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families.Semantic proximity Read ↗

Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.Semantic proximity Read ↗

A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.Semantic proximity Read ↗

Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.Semantic proximity Read ↗

β-Thalassemia Intermedia Caused by the β-Globin Gene 3' Untranslated Region: Another Case Report.Semantic proximity Read ↗

A +8 (-->CT) mutation within the 5' untranslated region of beta-globin down-regulates the mRNA transcription.Semantic proximity Read ↗

A large beta-thalassemia deletion in a family of Indonesian-Malay descent.Semantic proximity Read ↗

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