The laboratory diagnosis of thalassemia:selection and evaluation of tests and methods / 中华检验医学杂志

ABSTRACT

The incidence of α-thalassemia and β-thalassemia is high in Guangxi,Guangdong,Sichuan and other province in China.Because no effective approach to thalassemia treatment could be used clinically now,the most cost-effective strategy to control this disease is to prevent the birth of babies with severe form of thalassemia.It is important to make effective screening and correct diagnosis of thalassemia by laboratory test.Laboratory diagnosis of thalassemia includes routine diagnosis and genetic diagnosis.The laboratory routine tests are some hematology examination,comprising red blood cell indices,erythrocyte osmotic fragility test,hemoglobin analysis,and others.Anyone alone of these laboratory parameters can not be used to diagnose the carrier of thalassemia.It is necessary to combine these tests to make screening diagnosis.The final diagnosis of thalassemia need to perform the gene mutation examination or globin train analysis.Technologies for gene mutation detection have been the main and gold standand method of diagnosing thalassemia now.