Investigation Of Non-Invasive Prenatal Genetic Diagnosis For B Thalassaemia Using Single Fetal Nucleated Erythrocytes From Maternal Blood

β thalassaemia is a hereditary chronic hemolytic anemia, results from a reduced output of the β-chains of adult haemoglobin. The disorder is characterized by a variety of geng mutations that either reduce or completely abolish the synthsis of β-globin . Since β thalassaemia is one of the most common autosomal recessive single gene disorders, and the treatment required is very expensive and unsatisfactory recently, the effective strategy for controlling the incidence of β thalassaemia is prenatal diagnosis, whose techniques rely on an invasive procedure to obtain fetal tissue . These invasive produres are associated with a small but significant risk to both mother and child, hence, there is a considerable need for a non-invasive alternative. β thalassaemia have particularly high incidences in Guangxi province, the investigation on non-invasive prenatal dignosis for β thalassaemia seems more crucial.In this study, single fetal NRBC from maternal blood was used for prenatal genetic diagnosis .Our aim is to construct a utility approach for non-invasive prenatal diagnosis of β thalassaemia.Part one Obtaining nucleated erythrocytes from maternal blood by benzidine staining and micromanipulationObjective To develop a simple, rapid and lowcost method for detection and isolation nucleated erythrocytes (NRBCs) from maternal blood, that allows the non-invasive prenatal genetic diagnosis for β thalassaemia by using a single fetal NRBC isolated from maternal blood.