Molecular diagnosis of β-thalassemia / 中华检验医学杂志

ABSTRACT

β-thalassemia is one of the most common monogenic genetic disorders in the world,and represents a major public health problem among humans.This review descrihes the latest technical development of molecular diagnosis of β-thalassemia from the perspective of clinical settings.Related techniques including reverse dot blot,minisequencing,real-time PCR,and non-invasive prenatal diagnosis,etc.are discussed regarding their principles,features and trends.