THALASSEMIA is an inherited blood disorder in which the body makes an unusual form of haemoglobin.
Haemoglobin is the protein particle in red platelets that carries oxygen. The condition results in an excessive decrease of red blood cells, which prompts anaemia.
Individuals with thalassemia are not able to produce enough haemoglobin, which causes severe anaemia. Anaemia is a condition where your body needs more healthy red blood cells.
Beacon Hospital consultant clinical haematologist and internal medicine, Dr Tengku Ahmad Hidayat Tengku K Aziz says thalassemia happens when one of the genes involved in the development of haemoglobin has an abnormality or mutation.
This genetic abnormality is inherited. You have a greater risk of inheriting a more severe form of the disease if both your parents are carriers of thalassemia.
It is estimated that about five per cent of Malaysians are carriers, and the Ministry of Health estimates that between 150-300 babies are born annually with severe thalassaemia.
Out of the 7,984 thalassaemia patients in Malaysia, the age group between 6-20 years has the highest percentage of patients at a total of 49.5 per cent.
There are two main types of thalassemia, explains Dr Tengku Ahmad. Alpha thalassemia happens when alpha globin protein-related genes or genes are missing or changed (mutated). Beta thalassemia meanwhile happens when development of the beta globin protein is impaired by similar gene defects.
Generally, blood tests such as a full blood count (FBC) and special haemoglobin tests are used to detect thalassemia. A full blood count (FBC) determines the amount of haemoglobin and various types of blood cells, such as red blood cells in a sample of blood.
In the blood of people with thalassemia, there are less healthy red blood cells and less haemoglobin than average.
Red blood cells in people with alpha or beta thalassemia traits can also be smaller than average.
IDENTIFYING THE DISEASE
The signs of thalassemia vary. Some of the more prevalent ones include infections, increased iron content, deformities of the bones and dark urine. Patients also experience delayed growth, excessive fatigue or exhaustion and pale or yellow skin
"But not everybody has symptoms of thalassemia that are apparent. In childhood or adolescence, symptoms of the disease appear to turn up later," says Dr Tengku Ahmad.
People with moderate to serious thalassemia can now live longer thanks to improved therapies but they must deal with the long-term consequences of their illness.
Complications are still common and include heart disease, liver disease, infections and osteoporosis.
Individuals with mild to extreme types of thalassemia have severe anaemia symptoms early in life and they normally find out about their condition in childhood.
Individuals with less serious types of thalassemia only find out when they experience anaemia symptoms, or because a doctor discovers anaemia during a regular blood test or another test.
"Due to the fact that thalassemia is hereditary and can run in families, some individuals learn about their thalassemia from relatives who have the same disease."
The type of treatment a person requires is determined by the severity of his or her thalassemia. The more severe the thalassemia, the less haemoglobin the body produces, and the greater the risk of anaemia.
Increasing the number of red blood cells in the body to carry oxygen is one way to treat anaemia. A blood transfusion is a safe and normal procedure that involves receiving blood through a small plastic tube inserted into one of your blood vessels.
Since a thalassemia patient's body produces too little haemoglobin, some people with thalassemia –commonly thalassemia major – require daily blood transfusions.
People with thalassemia intermedia may need blood transfusions on occasion, such as when they are sick or have an infection.
People with thalassemia minor or trait meanwhile, do not normally need blood transfusions unless they are either anaemic or have moderate anaemia.
A dietary B vitamin known as folic acid is often prescribed to people with thalassemia to help treat anaemia. Folic acid can aid in the development of red blood cells.
Folic acid therapy is commonly used in conjunction with other treatments.
Since thalassemia is hereditary, there is no way to avoid it ( being passed from parents to children through genes).
Prenatal tests, on the other hand, can detect these blood disorders before birth.
Family genetic studies can also aid in determining whether people have thalassemia-causing haemoglobin genes that are missing or altered.
"If you have thalassemia in your family and are considering having children, consult your doctor and a genetic counsellor. They can help you figure out whether you're at risk of passing the disease on to your children."
With an aim of raising awareness of thalassemia, Beacon Hospital has embarked on a thalassemia awareness campaign which will be ongoing until Aug. The campaign encourages Malaysians to participate by offering free consultations and blood screening tests.