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Article

Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention.

The American journal of pediatric hematology/oncology - 1 Jan 1991

Cao A, Rosatelli C, Pirastu M, Galanello R

Abstract excerpt

This article reviews the molecular bases of alpha- and beta-thalassemias in Sardinia. In addition, it describes the characteristics and the effects of a genetic program designed to prevent homozygous beta-thalassemia. In the large majority of the cases (95.7%), beta-thalassemia is caused by the nonsense mutation at codon 39, followed by frameshifts at codon 6 (2.1%). Homozygous beta-thalassemia most commonly...

Topics

Base Sequence
Chromosome Aberrations
Codon
Female
Genetic Counseling
Genetic Testing
Haplotypes
Heterozygote
Humans
Italy
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pregnancy

Prenatal Diagnosis

Thalassemia

Source

Identifiers

PMID: 2069229

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2069229-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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