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Classification and diagnosis standards of thalassemia

??The classification of thalassemia is mainly based on the types of the defective synthesis of the globin chains of adult hemoglobin A and clinical features??the former mainly includes α??β??γ??δ??δβ??etc.??and α or β thalassemia is the most common form of thalassemia??the latter is classified as transfusion-dependent thalassemia and non-transfuion-dependent thalassemia in terms of long-term survival depending on blood transfusion. The diagnostic techniques include screening test and genetic test??the former diagnostic method is mainly based on the morphology of red blood cells and the physical and chemical properities??including routine analysis of blood??red blood cell morphology and hemoglobin electrophoresis??etc.??and the latter is mainly based on PCR technology??including gap-PCR??real-time PCR??gene chip and DNA screening??etc. This paper reviews the classification and laboratory diagnosis techniques in thalassemia??combining comprehesive screening method with technique of genetic diagnosis??which appropriately contributes to the diagnosis of thalassemia.