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

Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.

Klinische Wochenschrift - 2 Oct 1991

Beris P, Darbellay R, Hochmann A, Pradervand E, Pugin P

Abstract excerpt

We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the alpha-globin cluster and digestion with Mae I of the in vitro amplified 5' segment of the beta-globin gene shows a combination of triplicated alpha globin locus, anti-3.7 kb type, with heterozygous codon 39 C----T beta (0) thalassemic mutation. These, as well as 16...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Genotype
Share to Globins

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

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Thalassemia

Source

Identifiers

PMID: 1795494
DOI: 10.1007/BF01649440

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

Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.PMID 1795494Read ↗

Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia.Semantic proximity Read ↗

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

Association of globin gene quadruplication and heterozygous thalassemia in patients with thalassemia intermediaSemantic 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 ↗

The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies.Semantic proximity Read ↗

[The first case of thalassemia intermedia in Spain due to the interaction of 3 alpha genes with beta-thalassemia minor].Semantic proximity Read ↗

Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.Semantic proximity Read ↗

Genetic interactions in thalassemia intermedia: analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients.Semantic proximity Read ↗

Double heterozygosity for the codon beta 39 C-to-T nonsense mutation and a triplicate alpha-globin gene locus can cause "dominantly" inherited beta-thalassemia intermedia.Semantic proximity Read ↗

Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type.Semantic proximity Read ↗

[Association of alpha and beta thalassemia with alpha gene triplication in one family].Semantic proximity Read ↗

Alpha thalassaemia in two Spanish families.Semantic proximity Read ↗

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