Is it normal for screening positive for thalassemia but negative for genes?

A positive screening for thalassemia but a negative genetic test may be normal, and a comprehensive judgment should be made based on specific testing methods and clinical conditions. Mediterranean anemia screening is usually conducted through blood routine and hemoglobin electrophoresis for initial screening, while genetic testing is the gold standard for diagnosis.

Positive screening but negative genes may result in false positive results due to limitations of screening methods. The decrease in average red blood cell volume and average hemoglobin content in blood routine may be influenced by factors such as iron deficiency and infection, and is not a specific indicator of thalassemia. When abnormal bands are detected by hemoglobin electrophoresis, some rare variant types may not be covered by conventional genetic testing. Non deletion mutations or rare mutations prevalent in certain regions may not be within the scope of routine testing, leading to false negatives. When the gene test is negative but there are obvious symptoms of anemia, the possibility of coexisting with iron deficiency anemia, chronic disease anemia, etc. should be considered. Some patients may carry the alpha thalassemia quiescent type or beta thalassemia trait type, whose gene mutations have not reached the detection threshold. In rare cases, laboratory operational errors or sample quality issues may affect the accuracy of results. For individuals with a family history or typical clinical manifestations, it is recommended to use a more comprehensive gene sequencing protocol for re examination.

It is recommended to bring a complete test report to a hematology specialist for evaluation by a doctor on whether additional iron metabolism indicators, bone marrow puncture, and other examinations are needed. When the screening results of couples preparing for pregnancy are inconsistent, genetic counseling should be sought. Pay attention to a balanced diet in daily life, avoid overwork, and regularly monitor changes in blood routine. Avoid self supplementing iron or using folk remedies, all treatments should be carried out under the guidance of a professional physician.