Thalassaemias are the most common single gene disorders in the populations of the Mediterranean Sea,Middle East and South Asia. They are characterized by reduced production of globins and anemia. The main human globin HbA is a protein that is consisted by two α protein chains and two β protein chains
Thalassaemias are divided into:
- alpha-Thalassaemia, when the synthesis of α protein chains is affected,
- beta-Thalassaemia, when the synthesis of β protein chains is affected,
- delta beta-Thalassaemia, when the synthesis of δ and β protein chains is affected.
The disease is inherited in an autosomal recessive manner. When both parents are carriers there is a 25% risk to have an affected offspring.
All exons and introns of a globin genes (HBA1 and HBA2) are analysed through Sanger sequencing. The presence of deletions and/or duplications in the a globin gene complex is evaluated using the MLPA technique.
Sample type: Peripheral blood in EDTA tubes
Time to result: 2 weeks
There is the possibility of prenatal screening for alpha-Thalassaemia in chorionic villi or amniotic fluid samples.