The Tests You Need to Diagnose Thalassemia

Published: Apr 12, 2024

Diagnosing thalassemia involves specific tests to identify the type and severity of the condition. Learn about the tests that are crucial for accurate diagnosis.

Blood Tests

Initial blood tests include a complete blood count (CBC) to detect anemia and abnormal red blood cell shapes. These tests help indicate if further investigation for thalassemia is needed. They are the first step in identifying potential thalassemia cases.

Hemoglobin Analysis

Hemoglobin analysis checks for abnormal types of hemoglobin. Techniques like electrophoresis and HPLC identify specific hemoglobin variants. This test helps determine if thalassemia is present and its type.

Tests essential for diagnosing thalassemia, including complete blood count (CBC) and hemoglobin analysis using techniques like electrophoresis and HPLC.

Genetic Testing

Genetic testing confirms thalassemia by identifying mutations in globin genes. This test is crucial for precise diagnosis and understanding the condition's inheritance. It's often used for carrier detection and prenatal diagnosis.

Frequently Asked Questions

Blood tests, hemoglobin analysis, and genetic testing.

To confirm the type and inheritance of thalassemia.

It identifies abnormal hemoglobin types indicating thalassemia.

They detect anemia and abnormal red blood cells.

Key Takeaways

Accurate testing is vital for diagnosing and managing thalassemia effectively.

Curious about thalassemia testing? Chat with Doctronic for more insights!

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References

Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood 2003; 101:791.

Musallam KM, Rivella S, Vichinsky E, Rachmilewitz EA. Non-transfusion-dependent thalassemias. Haematologica 2013; 98:833.

Always discuss health information with your healthcare provider.