Article
Genetic interactions in thalassemia intermedia: analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients.
American journal of hematology - 1 Feb 1995
Camaschella C, Mazza U, Roetto A, Gottardi E, Parziale A, Travi M, Fattore S, Bacchiega D, Fiorelli G, Cappellini M D
Abstract excerpt
In order to verify the genetic factors influencing the clinical expression of beta-thalassemia we have studied 292 Italian patients, 165 with thalassemia intermedia and 127 with thalassemia major. The beta-globin gene mutations were defined in all cases. The number of alpha-globin genes and the integrity of specific control regions of the beta-globin cluster--gamma promoters and beta-Locus Control Region...
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