Thalassaemia belongs to one of the most widely spread inherited blood disorders around the world. It is passed on from parents to children. The cause of this disease is changes taking place in the genes that are accountable for haemoglobin production. Haemoglobin represents a protein that contains in red blood cells. It delivers oxygen all around the body. Those changes that occur to haemoglobin lead to anaemia.
All people of all nationalities in any country of the world are prone to thalassaemia. However, people with ancestry from Mediterranean countries and a large territory spreading through India, Middle East and South East Asia are in the risk group. The thalassaemia is detected as a rule during the first sex months of life. If there is no proper treatment followed, the disease can lead to fatal consequences in early childhood. There exist two kinds of thalassaemia. These are alpha and beta. The second type is more common.
There is b-thalassaemia monor, which occurs in people with one copy of the b-thalassaemia gene. To diagnose the carrier state, it is necessary to take a specific blood test for thalassaemia.
There is also b-thalassaemia major that develops when there are two carriers of b-thalassaemia want to have children. The child of such a couple has a 25 per cent risk to suffer from thalassaemia major. There is also a 50 per cent risk of becoming a carrier.
In case a person suffers from thalassaemia major, his red blood cells can live only for a few weeks, while normal red blood cells can live for about four months. When there is insufficient amount of haemoglobin, cells of the body get not enough oxygen.
In the early childhood the following symptoms can be observed: severe anaemia, paleness, problems with sleep, bad appetite, inability to grow and thrive, enlargement of organs.
As of now, no cure for thalassaemia major has been found so far and treatment should be led during the entire life. Treatment presupposes taking transfusions on a regular basis that will help to raise the level of haemoglobin in the blood. But unfortunately, there is a risk that transfusions will result in build-up of iron that in turn can lead to such side effects as diabetes, heart failure and liver disease.
It should be remembered that couples when both have thalassaemia minor can opt not to have children or may make up their mind for adoption, fostering. They also can get prenatal diagnosis with the option to terminate the pregnancy in case the foetus will acquire thalassaemia major.
The only way to get cured is a bone marrow transplant. However, this operation is connected with high risks. A chance to find the right donor amounts to 30 per cent. Donors are in the majority of cases siblings. The operation has more chances for success in young children, who do not have iron overload. However, it does not guarantee prevention of death. Genetic research continues to be carried out giving the hope that a cure will be found some day.