New Progress in Laboratory Detection of Abnormal Hemoglobinopathies

Abnormal hemoglobinopathies are a group of hereditary diseases caused by Hb variants with new molecular structure changes due to globin defects and changes in the primary structure of globin. It is one of the most common birth defects and ranks third in global incidence [1]. Compared with thalassemia, most abnormal hemoglobinopathies are clinically asymptomatic and have a low incidence rate, which makes the awareness of the disease not widespread enough. Therefore, there is no mature and independent screening and diagnosis program at present, and abnormal hemoglobinopathies are often It is accompanied by abnormalities found in thalassemia screening, and then can be diagnosed by genetic sequencing.