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.

Method: Using a combination of molecular techniques the following mutations of α-Thalassaemia are screened:-α3.7, -α4.2, -(α)20.5, -(α)5.2, αααanti-3.7, αNCOα, –MED, –SEA, –THAI, –FIL, α1 cd 14 [TGG>TAG], α2 init cd [ATG>ACG], α2 cd 19 [-G], α2 IVS1 [-5nt], α2 cd 59 [GGC>GAC], α2 poly A-1 [AATAAA-AATAAG], α2 poly A-2 [AATAAA-AATGAA], Hb Heraklion, Hb Agrinio, Hb Aghia Sophia, Hb Taybe, Hb Adana, Hb Quong Sze, Hb Constant Spring, Hb Icaria, Hb Pakse, Hb Koya Dora.

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.