Thalassemia

Five Mutations of LDL Receptor Gene Identified

Published in Blood Weekly, April 13th, 2000

A thalassemia trait appears to be associated with low density lipoprotein (LDL) cholesterol, which may retard both the development and progression of coronary atherosclerosis in individuals with familial hypercholesterolemia (FH), according to a report from Italy.

The Sardinian population is known to have a high prevalence of genetic hemoglobin disorders. Previous studies have reported that an estimated 13% to 33% of Sardinians carry a mutant allele of the alpha-globin gene (alpha-thalassemia trait) and that 6% to 17% of the individuals who have this mutant are beta-thalassemia carriers. "In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) is...

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Source: Blood Weekly (2000-04-13)

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