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

Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.

Hemoglobin - 1 Jan 2007

Agouti Imane, Bennani Mohcine, Ahmed Abouyoub, Barakat Amina, Mohamed Khattab, Badens Catherine

Abstract excerpt

We describe a new beta-thalassemia (thal) mutation in the beta-globin gene of an 8-year-old Moroccan boy. This homozygous mutation produces a phenotype of thalassemia intermedia and is associated with the Mediterranean haplotype IX. We discuss the pathophysiological consequences of this mutation which is located near the 3' end of the second intervening sequence (IVS-II) of the beta-globin gene.

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
Share to Globins

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

Share to Haplotypes

Share to Homozygote

Share to Introns

Share to Mutation

Source

Identifiers

PMID: 17994377
DOI: 10.1080/03630260701613210

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

Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.PMID 17994377Read ↗

Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.Semantic proximity Read ↗

Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele.Semantic proximity Read ↗

Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan.Semantic proximity Read ↗

b-thalassemia intermedia resulting from compound heterozigosity for an IVSI-1 (G-A) and a silent 5' UTR +33 (C-G) mutations.Semantic proximity Read ↗

Three Mexican Families with β thalassemia intermedia with different molecular basisSemantic proximity Read ↗

Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the -88 (C-->T) mutation.Semantic proximity Read ↗

Heterozygous beta-thalassemia with thalassemia intermedia phenotype.Semantic proximity Read ↗

[Thalassemia intermedia caused by interaction of IVS-1 1(G--A) mutation in the beta-globin gene and heterozygotic triplication in the alpha-globin gene].Semantic proximity Read ↗

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.Semantic proximity Read ↗

Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide.Semantic proximity Read ↗

A new case of thalassemia intermedia: interaction of a triplicated alpha-globin locus and beta-thalassemia trait.Semantic proximity Read ↗

Two novel beta-thalassemia alleles in the Chinese: the IVS-II-2 (-T) and nucleotide +8 (C-->T) beta-globin gene mutations.Semantic proximity Read ↗

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