Molecular Testing for α-Thalassemia
Thalassemia is a monogenic disorder inherited in an autosomal recessive manner.
It is caused by mutations in the α- or β-globin genes (α- and β-thalassemia, respectively), leading to reduced hemoglobin production and various clinical manifestations depending on the type of genetic defect.
In Greece, approximately 3,500 individuals are affected by thalassemia, and the carrier frequency is estimated at 8% of the population.
The thalassemia test analyzes DNA to detect 21 α-thalassemia mutations, which are the most frequently occurring mutations in Greece and in many other countries.
Sample type: Peripheral blood, amniotic fluid, chorionic villi.
Turnaround time: 1 week