The spectrum of α-thalassaemia mutations has been extensively documented over the past few decades, with more than 370 mutations currently catalogued in the public IthaGenes database [7]. Among these mutations, over 130 are deletions, while more than 220 are non-deletional mutations, with the remaining mutations falling into other categories. Detailed information about these variations is regularly recorded and updated on the IthaNet portal (http://www.ithanet.eu). Figure 2 provides a summary of the most common α⁺-thalassaemia and α⁰-thalassaemia deletions.

Figure 2

Molecular basis of α-thalassaemia. The most common α-thalassaemia deletions are shown in orange bars indicating the length and the annotation of the deletion and subdivided into α⁺- and α⁰-thalassaemia deletions (adapted (more...)