A NEWLY-CHARACTERIZED ALPHA-THALASSEMIA-1 DELETION REMOVES THE ENTIRE ALPHA-LIKE GLOBIN GENE-CLUSTER IN AN ITALIAN FAMILY

作者：FORTINA P; DIANZANI I; SERRA A; GOTTARDI E; SAGLIO G; FARINASSO L; PIGA A; GABUTTI V; CAMASCHELLA C

来源：British Journal of Haematology, 1991, 78(4): 529-534.

DOI：10.1111/j.1365-2141.1991.tb04483.x

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 xi and alpha-probes.

• 出版日期1991-8