Article
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jan 2000
Deiana L, Garuti R, Pes G M, Carru C, Errigo A, Rolleri M, Pisciotta L, Masturzo P, Cantafora A, Calandra S, Bertolini S
Abstract excerpt
One of the genetic features of the Sardinian population is the high prevalence of hemoglobin disorders. It has been estimated that 13% to 33% of Sardinians carry a mutant allele of the alpha-globin gene (alpha-thalassemia trait) and that 6% to 17% are beta-thalassemia carriers. In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cases. Because...
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