How thalassaemia is diagnosed

Diagnosis starts with a full blood count. In thalassaemia, red cells are typically small (low MCV) and pale (low MCH). Because iron deficiency can look similar, iron studies are usually checked to tell them apart.

A haemoglobin analysis (electrophoresis or HPLC) then measures the different haemoglobin types (HbA, HbA2, HbF) and can reveal thalassaemia and other haemoglobin variants. Genetic (molecular) testing can confirm the exact type, predict severity, and identify carriers in the family.

The same tests are used for carrier screening — helpful before starting a family, and for offering testing to relatives.