Thalassemia describes a group of blood disorders that is caused by changes to the genes that control the production of oxygen-carrying molecules (haemoglobins) in red blood cells.
What happens when you have thalassemia?
People whose genes are affected by these changes may produce less haemoglobin or haemoglobin that are less efficient in carrying oxygen. Their red blood cells tend to get destroyed faster too.
When that happens, they do not have enough haemoglobin or red blood cells (anaemia) to carry oxygen around in their body, and they may appear pale and feel fatigued.
The type of thalassemia one has depends on the defective gene a person inherits. The two major types of thalassaemia are alpha and beta thalassemia, but some people can have delta thalassemia as well.
Is it a common disease?
While thalassemia is found in almost every country worldwide, it is more commonly found in Mediterraneans and Asians.
According to the data from the National Thalassemia Registry, currently there are 4,768 thalassemia patients registered in Malaysia. Although some may have mild disease and are not detected or recorded by the registry, among the recorded cases, 2,800 patients require regular blood transfusion.
What are the common signs and symptoms?
According to mayoclinic.com, the signs and symptoms include fatigue, weakness, shortness of breath, pale appearance and a protruding abdomen.
The severity of symptoms depends on the type of the disease. Those with thalassemia major are people who have severe symptoms of thalassemia, while those with thalassemia intermedia have moderate symptoms.
People who have thalassemia minor are people who carry the changes in their genes (carriers), but are healthy and have mild or no symptoms.
The symptoms of thalassemia major start very young, usually at the age of 6 months, although the severe ones could start earlier.
For thalassemia major, diagnosis is usually made in the first year of life.
The child may have poor feeding and poor growth. The parents may notice that the child is pale and that the abdomen is distended due to an enlarged spleen and/or liver.
Are there many thalassemia carriers around?
Based on the many screening studies conducted (including those by the Ministry of Health), the carrier rate averages at about 5%, which means about one in 20 Malaysians carry the thalassemia gene.
Thalassemia carriers should not be worried or stigmatised by their carrier status. However, they need to be aware of the risks involved when they have children with another thalassemia carrier. For instance, when both parents are beta thalassemia carriers, there is a 25% chance their child will have thalassemia.
How is it diagnosed?
Thalassemia is diagnosed by a series of blood tests. The first blood test evaluates the quality, shape and size of a person's red blood cells. If they are not normal, further tests, including tests to evaluate the haemoglobin and DNA, will be performed to diagnose the disease.
Is it treatable or curable?
Not all thalassemia patients need treatment, but those who do can be treated with regular blood transfusions. This way, patients will have enough healthy red blood cells that can carry enough oxygen to all parts of the body.
However, regular transfusions can cause iron to accumulate in the patient's body. Therefore, they need treatment to remove excess iron from their bodies as well.
While thalassemia can be cured with bone marrow transplantation (BMT), it is not available to many thalassemia patients due to difficulties in finding a compatible donor.
More info on THALASSEMIA here.
8:00 AM Talassemia