Alpha thalassaemia in an Italian population

C. Velati, M. Sampietro, M. Biassoni, M. D. Cappellini, J. S. Wainscoat, D. R. Higgs, G. Fiorelli

Research output: Contribution to journalArticlepeer-review


The incidence of α-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, α-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of α-thalassaemia caused by a single α-globin gene deletion (-α). The molecular basis of α-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -α3.7 deletion type of α-thalassaemia and nine had nondeletion types of α-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

Original languageEnglish
Pages (from-to)497-501
Number of pages5
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - 1986

ASJC Scopus subject areas

  • Hematology


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