Thalassaemia - What Causes It?

Thalassaemia is one of the most difficult hereditary diseases to live with. Even though there is no cure, parents can prevent their child from being born with this terrible disease if they are careful. However, preventing the spread of disease in the world has proven difficult due to the lack of proper awareness about the condition. 

Causes and types of thalassaemia

Thalassaemia is a hereditary condition, passed on from parents to their children. The condition results in improper and insufficient red blood cell and haemoglobin formation. This causes anaemia in the body.

There are two main types of thalassemia -

Alphas-thalassemia- In this type, up to four genes are involved. Two genes are passed down to you from each parent. In case of a single mutated gene, you will not suffer from the condition, but you become a carrier. In the case of two mutated genes, the symptoms of the disease will be mild. In the case of three mutated genes, the symptoms will be severe. Most children with four mutated genes are stillborn, while a few may survive for a short period after birth.

Thalassaemia minor- Two genes determine whether an offspring will suffer from thalassaemia minor. If one of these two genes is mutated, the child will have mild symptoms of the disease. If both the genes are affected, the child will be healthy at birth but will develop severe thalassaemia within the first two years of life.

Treatment for Thalassaemia

Treatment varies depending on the severity of the disease that affects you. For instance, people with mild thalassaemia do not require frequent treatment. For these people, blood transfusion is necessary after surgery or childbirth.

On the other hand, people suffering from severe thalassaemia rely on frequent blood transfusions. In a small number of cases, if you are able to find a proper donor, you can also take advantage of stem cell transplant to treat Thalassaemia. After such surgery, you no longer need blood transfusions for the rest of your life. Therefore, prevention and genetic testing before conceiving is the best way to combat thalassaemia in the long run.