Can negative screening for thalassemia exclude thalassemia?

A negative screening for thalassemia usually cannot completely rule out thalassemia, and further confirmation is needed in conjunction with genetic testing. The screening for thalassemia mainly includes methods such as blood routine examination and hemoglobin electrophoresis, but genetic testing is the gold standard for diagnosis. A negative result in routine screening may result in missed diagnosis. Some patients with mild or quiescent thalassemia have hemoglobin levels close to normal, and their blood routine and electrophoresis results may show negative. Some special types of mutations may also evade routine testing. Pregnant women may experience false negatives during screening due to physiological factors during pregnancy. The incomplete conversion of hemoglobin types in newborn screening may result in missed detections. Genetic testing can detect carriers that are difficult to identify through routine screening. Even if the screening is negative, individuals with a family history or suspected symptoms still need to undergo alpha/beta globin gene analysis. If both husband and wife are carriers, there is a probability of giving birth to a child with severe thalassemia during each pregnancy. It is recommended that reproductive age populations in high-risk areas such as southern China undergo comprehensive genetic testing. Some rare variations require special detection techniques to be discovered.

It is recommended that individuals with negative screening but symptoms such as anemia, jaundice, and splenomegaly seek timely medical attention from a hematology department. Pregnant couples planning to conceive should jointly complete genetic testing to assess risk. Families who have already given birth to impoverished children need genetic counseling. Pay attention to preventing infections in daily life, avoid using oxidative drugs, and supplement folic acid in moderation. Regularly monitor hemoglobin and iron metabolism indicators, and severe patients need standardized blood transfusion and iron removal treatment.