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Article

Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta thalassemia.

Pathology - 1 Jan 1992

Trent R J, Thein S L

Abstract excerpt

Normal HbA2 beta thalassemia in a Greek individual was shown to be due to co-inheritance of beta and delta thalassemias. The genetic defects were characterized by enzymatic amplification of the beta and delta globin genes and direct genomic sequencing. Two children with a typical high HbA2 beta thalassemia trait had inherited the beta thalassemia allele whilst a third child had low-normal HbA2 associated with...

Topics

Adult
Alleles
Base Sequence
DNA
Female
Gene Amplification
Globins
Hemoglobin A2
Humans
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Thalassemia

Source

Identifiers

PMID: 1349739
DOI: 10.3109/00313029209063614

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1349739-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta thalassemia.PMID 1349739Read ↗

Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.Semantic proximity Read ↗

Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece.Semantic proximity Read ↗

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The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece.Semantic proximity Read ↗

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

[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].Semantic proximity Read ↗

Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.Semantic proximity Read ↗

Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.Semantic proximity Read ↗

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