A newly-characterized α-thalassaemia-1 deletion removes the entire α-like globin gene cluster in an Italian family

P. Fortina, I. Dianzani, A. Serra, E. Gottardi, G. Saglio, L. Farinasso, A. Piga, V. Gabutti, C. Camaschella

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a new deletional form of α thalassaemia which encompasses the entire α-like globin gene cluster in a 15-year-old boy of Southern Italian descent. The deletion removes ~ 31 kb, the 5'-end point is located approximately 4 kb upstream of the ξ gene, while the 3'-end point maps between the α1- and Θ1-globin genes. The interaction of this deletion with the common-α3.7 form gives origin to a classical form of haemoglobin (Hb) H disease in the propositus of this study. Deletional forms of ξα-thalassaemia are uncommon in the Mediterranean basin; as for other unusual ξα-thalassaemia forms, heterozygotes for this mutation may escape detection in population surveys based on ξ and α probes.

Original languageEnglish
Pages (from-to)529-534
Number of pages6
JournalBritish Journal of Haematology
Volume78
Issue number4
Publication statusPublished - 1991

ASJC Scopus subject areas

  • Hematology

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