Transformation of
Thalassaemia Genetic testing
by the implementation of
NGS-based thalassemia assay

The haemoglobinopathies are the most
common monogenic diseases worldwide, and
have been recognized as a growing global
health challenge1. Thalassemia is a serious
health problem in Cyprus where 12 % of the population are carriers of beta-thalassemia
and about 19% are carriers of alphathalassaemia2.
The traditional strategy for
thalassemia molecular diagnosis was
designed either to identify only the most
common mutations, or to target the main
causing genes of thalassemia, HBA, and HBB by
conventional molecular techniques such as PCR,
Real-Time PCR, MLPA, Sanger sequencing, and
Mini sequencing. The complex analysis with the
use of multiple different techniques to obtain a
result can cause prolonged turn-around times
and costly processes and may even not be
conclusive.