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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...

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PMID: 2069229

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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.

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