Beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis. Issue 1 (February 1985)

• Record Type: Journal Article
• Authors: Del Senno, L; Pirastu, M; Barbieri, R; Bernardi, F; Buzzoni, D; Marchetti, G; Perrotta, C; Vullo, C; Kan, Y W; Conconi, F
• Is Part Of: Journal of medical genetics. Volume 22:Issue 1(1985)
• Page Start: 54
• Page End: 58
• Publication Date: 1985-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.22.1.54
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Six beta(+)-thalassaemic patients from the Po river delta region have been studied. Using synthetic oligonucleotides as specific hybridisation probes, the beta(+) IVS I mutation (G----A at position 108) was demonstrated. This lesion and the enzyme polymorphism pattern in the subjects examined are the same as have been described for other Mediterranean beta(+)-thalassaemias. Antenatal diagnosis through DNA analysis of beta(+)-thalassaemia is therefore possible. The production of beta globin in a beta(+), homozygote and in a beta (+), beta(0) 39 (nonsense mutation at codon 39) double heterozygote is approximately 20% and 10% respectively of total non-alpha globin synthesis. Despite some overlapping of the results, similar beta globin synthesis levels have been obtained in 43 beta(+)-thalassaemia patients. This suggests that in the Po river delta region the most common thalassaemic genes are beta(0) 39 and beta(+) IVS I.