Thalassaemia types and their incidence in Sardinia. Issue 6 (December 1978)

• Record Type: Journal Article
• Authors: Cao, A; Galanello, R; Furbetta, M; Muroni, P P; Garbato, L; Rosatelli, C; Scalas, M T; Addis, M; Ruggeri, R; Maccioni, L; Melis, M A
• Is Part Of: Journal of medical genetics. Volume 15:Issue 6(1978)
• Page Start: 443
• Page End: 447
• Publication Date: 1978-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.15.6.443
• Languages: English
• ISSNs: 1468-6244

Abstract

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.