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- Laboratory
- Blood Test - blood counts, Haemoglobin abnormalities, and peripheral blood smear for cell abnormalities
- Family Genetic study - Recording family medical history and blood tests on family members to know whether the family members have missing or altered haemoglobin genes. This study can help determine the family member's risk of passing this disorder to their children.
- DNA Analysis or Molecular Test - To help confirm gene mutations. This is a confirmatory test.
- Prenatal Testing (Genetic Test) - Amniotic fluid gets tested in rare instances where the foetus is at an increased risk for thalassemia. This test is especially important if both parents are thalassemia carriers.