Description
Why It’s Done:
This test is recommended for:
• Diagnosing Beta Thalassemia (major, intermedia, or trait/carrier state)
• Carrier screening, especially in individuals with a family history of thalassemia or in populations with high prevalence
• Prenatal diagnosis for couples at risk of having a child with beta thalassemia major
• Genetic counseling and family planning
• Confirming diagnosis in individuals with:
o Microcytic anemia (small red blood cells)
o Abnormal hemoglobin electrophoresis results
o Unexplained low hemoglobin or MCV (mean corpuscular volume)
The test helps differentiate thalassemia from iron deficiency anemia and other hemoglobinopathies.
Preparation:
• No special preparation (e.g., fasting) is usually needed.
• A blood sample is drawn from a vein for DNA analysis.
• Inform your doctor if you’ve had recent blood transfusions, as they may affect interpretation of related hematological tests.
• Family history of thalassemia or consanguinity should be shared with the healthcare provider to aid in accurate diagnosis and genetic counseling
