A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family.
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.
Fortina
P
P
Istituto di Clinica Pediatrica, Università degli Studi, Torino, Italy.
Dianzani
I
I
Serra
A
A
Gottardi
E
E
Saglio
G
G
Farinasso
L
L
Piga
A
A
Gabutti
V
V
Camaschella
C
C
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*
D005914:Globins