Β thalassemia screening by HPLC pattern.

When β thalassemia is suspected usually additional tests are performed to confirm the diagnosis. Ultimately it would be best to perform mutation analysis. With an exact genetic diagnosis, one can get more insight into the expected disease manifestations.

In countries where is, no neonatal screening offered children will manifest with features in the first year if life such as;

Paleness

Splenomegaly

Failure to thrive