Thalassaemias are a group of inherited blood disorders that affect the production of haemoglobin, the oxygen-carrying component of red blood cells. These conditions vary in severity, from mild forms to more serious anaemias, depending on the type of globin chain affected. Haemoglobin is made up of different globin chains, primarily α-chains and β-chains in adults. If the synthesis of α-chains is reduced, it leads to α-thalassaemia, and if β-chains are affected, it results in β-thalassaemia.
Globally, thalassaemias are more common in regions like the Mediterranean, Asia, and Africa. As an autosomal recessive disorder, both parents must carry the gene for the condition to be passed on to their child. Carriers, while not showing symptoms, can still transmit the gene.
These conditions lead to an imbalance in globin chains, causing red blood cells to break down prematurely and result in anaemia. The severity of thalassaemias ranges from minor forms (with few or no symptoms) to major forms (with severe anaemia requiring regular treatment). Diagnosis typically involves blood tests and genetic studies, which are essential for identifying carriers.
At Nicosia Fertility, we offer genetic testing and preimplantation genetic diagnosis (PGD) during IVF treatments, helping couples prevent the transmission of thalassaemia to their children. Understanding the genetic basis of this condition allows for informed family planning and opens up pathways for future therapeutic approaches.
Preventing Thalassaemia Through Genetic Diagnosis
With advanced reproductive technologies like PGD, families can ensure the health of their future children, avoiding the complications of thalassaemia. Genetic counselling and screening are vital tools in managing this hereditary condition.
For more information, contact Nicosia Fertility to explore how genetic testing can play a role in your fertility treatment journey.
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