Thalassemia Frequently Asked Questions

In view of the fact that some pregnant women and their families are often nervous and anxious about thalassemia, we would like to summarize a few common questions and answers in the hope that they can help. 1.How to screen for thalassemia? A: Thalassaemia screening is commonly done by routine blood test and hemoglobin electrophoresis, each of which has its own scope of application. To be on the safe side, it is best to do both tests, or else there may be a possibility of missed diagnosis. 2.What should I do if I have a positive test? Answer: A positive screening test does not necessarily mean that you have anemia. Abnormal screening requires further genetic testing to confirm whether the patient has thalassemia. 3.Is hemoglobin electrophoresis reliable to indicate the presence of thalassemia? A: Electrophoresis suggesting the presence of thalassaemia or a certain type of thalassaemia is not entirely accurate. It is recommended that comprehensive genetic testing be done on the basis of an abnormal electrophoresis. 4.What will happen to the carriers of anemia? Is thalassemia a serious disease? A: Thalassemia is a recessive genetic disease, and patients with severe forms of thalassemia usually cannot survive, so adults need not worry if they are found to be carriers of thalassemia, and even if they have some manifestations, they will not be too serious. 5. Why is the screening test for thalassemia abnormal but the genetic test normal? A: It may be other types of anemia, or it may be a very common type of anemia gene mutation. 6.Why do we need to do prenatal diagnosis for thalassemia? A: Thalassemia major patients can not survive independently, need repeated blood transfusion and iron removal treatment, except for bone marrow transplantation, there is no cure, so it is generally recommended to do prenatal genetic diagnosis to avoid the birth of this type of children. 7.What kind of pregnant women need prenatal diagnosis? A: Common thalassemia is divided into α and β types, only when both husband and wife are thalassemia patients of the same type, and the fetus may have severe thalassemia need to do prenatal diagnosis, the details are as follows: 8, when to do prenatal diagnosis by what method? A: Chorionic villus aspiration can be done during 8-12w of pregnancy, amniocentesis can be done after 16w, and cord blood sampling can be done above 24w for genetic diagnosis.