Thalassaemia is the most common inherited blood disorder in the world and it affects the production of haemoglobin, resulting in severe anaemia in those affected. The red blood cells of a person with Thalassaemia only survive a few weeks instead of four months. That’s why they require ongoing blood transfusions and treatments to remove the excess iron from their blood. The disorder is passed from parent to child.

Thalassaemia mostly affects those with ancestry from Southern Europe, India, Africa, the Middle East and Asia. Usually, we diagnosed it in children in the first six months of life and can be fatal in early childhood without ongoing, lifelong treatment.

Many people are carriers and have Thalassaemia minor. These people are healthy and the only way to know if they have the gene is to do a blood test. The concern arrises when two cariers have children. The chance of their child having Thalassaemia major (the serious illness) is one in four. Because Thalassaemia can be so devastating we increasingly testing women for the gene. If found positive, we test their partners as well. Ideally, we should do this testing in couples before planning to start a family.  If a couple is pregnant and both are carriers they may opt for prenatal testing to determine if the baby will have the disease.

Published 3/8/12