Beta-thalassaemia mutations and the underlying beta gene cluster haplotypes in the Greek population.

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Article

Beta-thalassaemia mutations and the underlying beta gene cluster haplotypes in the Greek population.

Gene geography : a computerized bulletin on human gene frequencies - 1 Jan 2000

Kollia P, Karababa P H, Sinopoulou K, Voskaridou E, Boussiou M, Papadakis M, Loukopoulos D

Abstract excerpt

The polymorphic sites across the beta gene cluster (restriction haplotypes) in association with specific thalassaemic mutations were analyzed in representative samples of normal and thalassaemic Greeks in comparison to similar data of other populations around the mediterranean basin. We studied 316 normal chromosomes, 218 chromosomes from patients with thalassaemia major and 72 chromosomes from patients with...

Topics

Alleles
Cyprus
Female
Gene Frequency
Genetic Testing
Globins
Greece
Haplotypes
Heterozygote
Humans
Incidence
Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lebanon

Mutation

Portugal

Pregnancy

Prenatal Diagnosis

Spain

Source

Open in PubMed

Identifiers

PMID: 1299316

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1299316-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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