Can a blood routine test detect thalassemia?

A blood routine can preliminarily screen for thalassemia, but it cannot be diagnosed. Further tests such as hemoglobin electrophoresis and genetic testing are needed. Mediterranean anemia is a hereditary hemolytic anemia mainly caused by defects in the globin gene leading to abnormal hemoglobin synthesis.

1. Screening effect of blood routine

Abnormal indicators such as average red blood cell volume and average hemoglobin content in blood routine may indicate thalassemia. The typical manifestation is small cell hypochromic anemia, with red blood cell volume less than 80 liters and hemoglobin concentration lower than normal. But similar results can also occur in diseases such as iron deficiency anemia, which needs to be distinguished by combining other indicators.

2. Hemoglobin electrophoresis

Hemoglobin electrophoresis can detect abnormal hemoglobin types and proportions, which is an important basis for diagnosing thalassemia. β - thalassemia may have elevated hemoglobin A2, while α - thalassemia may have hemoglobin H inclusions. This examination can distinguish different types of Mediterranean anemia.

3. Genetic testing

Genetic testing can clarify the type and quantity of globin gene mutations, and is the gold standard for diagnosing thalassemia. Common detection methods include PCR, gene sequencing, etc., which can detect alpha or beta globin gene deletions or point mutations. Genetic testing can also be used for prenatal diagnosis and genetic counseling.

4. Iron metabolism examination

Iron metabolism examination helps distinguish between iron deficiency anemia and thalassemia. Patients with thalassemia usually have normal or elevated serum iron and ferritin, while those with iron deficiency anemia have decreased levels. Indicators such as transferrin saturation can also assist in differential diagnosis.

5. Bone marrow examination

Bone marrow examination can observe the proliferation of red blood cell lines, and thalassemia often presents with significantly active red blood cell proliferation. Bone marrow iron staining can help rule out iron deficiency anemia, but it is usually not used as a routine examination and is only considered when diagnosis is difficult. When suspecting thalassemia, seek medical attention as soon as possible to avoid severe exercise exacerbating hemolysis. A balanced diet and moderate supplementation of folic acid are necessary in daily life to avoid infection induced hemolytic crisis. Couples of childbearing age should undergo genetic screening, and prenatal diagnostic techniques such as amniocentesis can be used to assess the risk of fetal disease during pregnancy. Confirmed patients need to regularly monitor their hemoglobin and iron load, and receive blood transfusions or iron removal therapy if necessary.