A multiplex approach to the molecular diagnosis of beta-thalassemia.

摘要

The thalassemia syndromes are the most common genetic disorders among humans and are responsible for considerable morbidity and mortality worldwide.1 Thalassemia is caused by inadequate expression of one of the two globin chains of hemoglobin. Most alpha-thalassemia is due to deletion of one or more of the four alpha-globin genes on chromosome 16, whereas beta-thalassemia is most commonly caused by point mutations of the beta-globin gene on chromosome 11 that result in decreased or absent beta-glo-bin expression. Individuals with thalassemia trait are generally asymptomatic. However, identifying carriers of thalassemia is important, particularly in areas where thalassemia is common since couples in which each prospective parent carries a thalassemia allele are at risk for having children with a severe thalassemia syndrome.