Neonatal screeing thalassemia

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;



Failure to thrive

Last modified
19 August 2018
46740-7 Hemoglobin disorders newborn screen interpretation
B78.01 Thalassemia

For hemoglobinopathies, neonatal screening can be performed by high-performance liquid chromatography (HPLC). The height of the peak of the different hemoglobin types will reveal an...

Rare Condition

Thalassemia major or Beta Thalassemia

The thalassemias are a group of genetically (inherited) blood disorders that share in common one feature; the defective production of hemoglobin which is the protein...