NEW YORK (GenomeWeb) – A group of researchers in China has developed a method to detect a set of mutations which lead to the blood disorder alpha-thalassemia.
The disorder is caused by deletional and non-deletional mutations in the alpha-globin gene cluster and it is considered one of the most common monogenic disorders in the world. There are two loci for the alpha-globin gene, and symptoms increase in severity with the number of affected alleles, with four mutations often being lethal at birth.