Research Progress on the Laboratory Diagnosis for Thalassemia -Review / 中国实验血液学杂志

ABSTRACT

Thalassemia laboratory diagnostic techniques include screening test and genetic test, the former diagnosis method is mainly based on the morphology of red blood cells and the physical and chemical properties, including routine analysis of blood, red blood cell morphology test, red blood cell permeability test, hemoglobin component analysis, etc. The latter is mainly based on various of molecular biology experiments developed on the basis of PCR, including gap-PCR,PCR-RDB,melting curve analysis,high resolution melting analysis,real-time PCR,gene chip and DNA sequencing, etc. This paper reviews the progress of laboratory diagnostic techniques on thalassemia, combination of comprehensive screening method with technique of genetic diagnosis, appropriately contributes to the diagnosis of thalassemia.