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. 1978 Dec;15(6):443–447. doi: 10.1136/jmg.15.6.443

Thalassaemia types and their incidence in Sardinia.

A Cao, R Galanello, M Furbetta, P P Muroni, L Garbato, C Rosatelli, M T Scalas, M Addis, R Ruggeri, L Maccioni, M A Melis
PMCID: PMC1013759  PMID: 745215

Abstract

The frequency of thalassaemia syndromes in Sardinia was examined by a population survey. The data indicate that about 12.6% of the Sardinian subjects are carriers of beta-thalassaemia, while 6.9% of the population carries an alpha-thalassaemia gene, with a slight difference between the various provinces. These are among the highest frequencies of thalassaemia genes found in a Caucasian population today. A survey of hospital inpatients and outpatients showed a newborn incidence of homozygous beta-thalassaemia of 1 in 300. The reasons for the difference between the expected and observed incidence figures are discussed. Moreover, 3 subjects with deltabeta0-thalassaemia trait, 6 carriers of heterocellular persistence of fetal haemoglobin (HPFH), 1 sickle cell trait, and 3 subjects with Hb J Sardegna were found. Genetic heterogeneity of beta-thalassaemia syndromes in this population may generally result from interaction of alpha- and beta-thalassaemia genes.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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