Contents
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.
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.
Wrapping Up
Accurate testing is vital for diagnosing and managing thalassemia effectively.
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.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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