Most frequent mutations of beta-thalassemia in Rosario, Argentina

The beta-thalassemia syndromes are genetic disorders characterized by absen ce or decrease in beta chain synthesis, producing an alteration in the alph a and beta chain relationship.(1) (1)From the molecular point of view beta- thalassemia is very heterogeneous. More than 100 mutations have been descri bed.(2) Each ethnic group has a variety of mutations; in the Mediterranean region there are more than 30 mutations, but only 8 of them are common. Our population is composed of different ethnic groups, with immigration princi pally from Italy and Spain. This study was an attempt to gather information regarding the presence of the most frequent mutations in our population.