Thalassemia

Thalassemia

Screening test for thalassemia

Screen test is done for to detect early diagnosis of risk factor of disease.

1. CBC; complete blood test

2. Hemoglobin electrophoresis

3. Thalassemia DNA analysis

4. Hemoglobin typing

5. Liver function test

6. Amniocentesis

7. Reticulocyte

8. Studies on iron; iron binding capacity

9. Genetic testing

10. Blood smear (peripheral smear)

11. Transferrin saturation test/ serum ferritin test

12. Newborn screening

13. FISH analysis

14. One tube osmotic fragility test

15. Dichlorophenolindophenol precipitation test

16. MCV (mean corpuscular volume)

Measurement of size of red blood cell.

17. Thalassemia carrier test

18. Genetic testing

HBB, HBA 1, HBA 2 genes known to cause thalassemia.