Is it normal for a negative gene test for thalassemia

A negative result in thalassemia gene testing is usually normal, indicating that no thalassemia related gene mutations have been detected. Mediterranean anemia is a hereditary hemolytic anemia mainly caused by defects in the globin gene. A negative result in a thalassemia gene test means that the test subject does not carry common mutations in the thalassemia causing gene, and the probability of developing thalassemia or passing it on to offspring is low. The commonly used clinical testing methods can cover over 90% of common mutation types, and negative results have high reliability. However, it should be noted that there may be technical limitations to the testing, such as rare mutation types or special gene variations that may not be included in the scope of testing. In rare cases, false negative results may occur, mainly due to the sensitivity of the detection method, sample quality, or rare genetic variations. If there are typical symptoms of thalassemia but the test is negative, it is recommended to combine hemoglobin electrophoresis, blood routine, and other tests to make a comprehensive judgment. If necessary, further testing such as gene sequencing should be performed. For individuals who test negative for thalassemia, it is still recommended to maintain a balanced diet and supplement foods rich in iron and folate, such as animal liver and dark green vegetables, in moderation. When both couples preparing for pregnancy test negative, the risk of illness in their offspring is extremely low, but prenatal screening still needs to be completed as required during pregnancy. The test results need to be comprehensively evaluated by professional doctors based on clinical manifestations and other examinations.