Molecular studies on sickle cell anemia in Sicily: preliminary results
Bertero, T.; Camaschella, C.; Rege Cambrin, G.; Serra, A.; Giubellino, C.; Amione, C.; Gottardi, E.; Saglio, G.
Haematologica 69(5): 513-520
1984
ISSN/ISBN: 0390-6078 PMID: 6094318 Document Number: 226899
The restriction enzyme site polymorphisms of the .beta. globin gene cluster was studied in 10 carriers of sickle cell anemia (4 with sickle cell anemia and 6 with sickle cell-thalassemia) from Sicily. In these patients the .beta.S mutation is linked to the lack of Hpa I site 3' of the .beta. gene (13 Kb variant) as is the .beta.S mutation in West Africa. The .beta.S gene is linked to a restriction enzyme pattern frequently found in American blacks. These data further emphasize the presence of African genes in Sicily.