title: A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family.
abstract: We describe a new deletional form of alpha thalassaemia which encompasses the entire alpha-like globin gene cluster in a 15-year-old boy of Southern Italian descent. The deletion removes approximately 31 kb, the 5'-end point is located approximately 4 kb upstream of the xi gene, while the 3'-end point maps between the alpha 1- and theta 1-globin genes. The interaction of this deletion with the common-alpha 3.7 form gives origin to a classical form of haemoglobin (Hb) H disease in the propositus of this study. Deletional forms of xi alpha-thalassaemia are uncommon in the Mediterranean basin; as for other unusual xi alpha-thalassaemia forms, heterozygotes for this mutation may escape detection in population surveys based on zeta and alpha probes.
authors.affiliation: Istituto di Clinica Pediatrica, Università degli Studi, Torino, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Fortina
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
authors.forename: A
authors.initials: A
authors.lastname: Serra
authors.forename: E
authors.initials: E
authors.lastname: Gottardi
authors.forename: G
authors.initials: G
authors.lastname: Saglio
authors.forename: L
authors.initials: L
authors.lastname: Farinasso
authors.forename: A
authors.initials: A
authors.lastname: Piga
authors.forename: V
authors.initials: V
authors.lastname: Gabutti
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D005190:Family; D005914:Globins / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins