What are the recommended follow-up diagnostic studies for beta (β) thalassemia?

From the Guidelines

Recommended follow-up diagnostic studies for beta thalassemia include complete blood count (CBC) with peripheral blood smear, hemoglobin electrophoresis, genetic testing, and cardiac assessment using cardiac T2 magnetic resonance to monitor iron overload and cardiac function*. After initial suspicion based on microcytic anemia with normal iron studies, a CBC will reveal decreased hemoglobin, reduced MCV (mean corpuscular volume), and elevated RBC count 1. Peripheral blood smear typically shows microcytosis, hypochromia, target cells, and basophilic stippling. Hemoglobin electrophoresis is essential to quantify hemoglobin fractions, particularly HbA, HbA2, and HbF. In beta thalassemia minor, HbA2 is typically elevated (>3.5%), while beta thalassemia major shows predominantly HbF with absent or minimal HbA. Genetic testing confirms the diagnosis by identifying specific mutations in the beta-globin gene. Family studies are important for genetic counseling. Additional studies may include serum ferritin, liver function tests, and cardiac assessment for patients with severe disease to monitor iron overload. Regular monitoring of these parameters is necessary for disease management, especially in transfusion-dependent patients where iron chelation therapy may be required 1.

Some key points to consider in the management of beta thalassemia include:

• The importance of early identification of cardiac iron overload using cardiac T2* magnetic resonance 1
• The need for regular monitoring of cardiac function and iron overload in transfusion-dependent patients 1
• The use of iron chelation therapy to prevent or reverse iron-related complications 1
• The importance of genetic counseling and family studies in the management of beta thalassemia 1

Recent guidelines also recommend the use of a combination of tests, including plasma iron, transferrin, transferrin saturation, ferritin, CRP, hepcidin, and evaluation of red blood cell morphology, to investigate suspected deficiency and overload 1. Additionally, cardiac assessment using echocardiography and/or cardiac MRI is advisable in patients with severe disease or signs of possible cardiac involvement 1.

Overall, the management of beta thalassemia requires a comprehensive approach that includes regular monitoring of hematological and cardiac parameters, iron chelation therapy, and genetic counseling. The use of cardiac T2 magnetic resonance to monitor iron overload and cardiac function is a key component of this approach*.

From the Research

Diagnostic Studies for Beta Thalassemia

The following diagnostic studies are recommended for beta thalassemia:

• Monitoring of serum ferritin levels to assess iron overload 2, 3
• Echocardiography and electrocardiography to detect cardiovascular complications 3
• Assessment of liver iron concentration to monitor iron overload 4
• Measurement of hepcidin levels to understand iron regulation 5
• Evaluation of von Willebrand factor and ADAMTS-13 to assess thrombotic risks 5

Iron Overload Assessment

Iron overload is a major complication in beta thalassemia, and its assessment is crucial for management:

• Serum ferritin levels are a reliable indicator of iron overload 2, 3, 5
• Liver iron concentration can be assessed using non-invasive methods 2, 4
• Cardiac iron overload can be detected using T2* MRI 3

Monitoring and Management

Regular monitoring and management of beta thalassemia are essential to prevent complications:

• Regular blood transfusions to manage anemia 6
• Iron chelation therapy to prevent iron overload 2, 4, 3
• Monitoring of serum ferritin levels and liver iron concentration to adjust chelation therapy 2, 4
• Regular echocardiography and electrocardiography to detect cardiovascular complications 3