International Thalassaemia Day
Each year on 8th May, International Thalassaemia Day is celebrated globally. It was organised by the World Health Organisation to raise awareness regarding the blood disorder.
The specific theme for 2015 is ‘Enhancing partnership towards patient-centred health systems: Good health adds life to years!’
So what is thalassaemia?
Thalassaemia is a group of inherited blood disorders where the part of the blood known as haemoglobin is abnormal.
The abnormality means that the affected red blood cells are unable to function normally, which leads to anaemia (reduced number of red blood cells).
Red blood cells
Red blood cells are very important because they contain haemoglobin, which carries oxygen from the lungs to the rest of the body.
Haemoglobin is produced in the bone marrow using the iron that the body gets from food.
In thalassaemia, haemoglobin production is abnormal, leading to anaemia and a reduced oxygen-carrying capacity. If your body doesn’t receive enough oxygen, you feel tired, breathless, drowsy and faint.
Types of thalassaemia
Thalassaemia is caused by genetic mutations that make haemoglobin. Haemoglobin is made up of matching alpha and beta chains of proteins. A mutation that affects the alpha chain causes alpha thalassaemia, and a mutation that affects the beta chain causes beta thalassaemia. There are also other rarer forms.
Depending on the numbers of genes affected the symptoms could range from mild anaemia to more severe forms of the disorder requiring blood transfusion. If both parents have affected genes there is a risk of passing the disorder onto their children.
Alpha thalassaemia is a blood disorder that occurs worldwide. It’s particularly common in Southeast Asia, and also affects people of Mediterranean, North African, Middle Eastern, Pakistan and India.
Beta thalassaemia can range from moderate to severe. The most severe form of the condition is known as beta thalassaemia major. People with this will require blood transfusions for the rest of their life. There is also a milder form of this condition.
Thalassaemia can be diagnosed with a blood test. In carriers of the disorder both husband and wife should be screened and counselled before having children. Ideally pregnant women should be screened for blood disorders.
Complications of thalassaemia can affect other body organs.
Thalassaemia in Pakistan
It is an issue for Pakistan? YES
In Pakistan awareness needs to be raised regarding the condition. 7% of the population are carriers of the thalassaemia gene mutation. 11 million in total have it in Pakistan. 50 000 children with Beta thalassaemia require regularly blood transfusions.
The Thalassaemia Federation of Pakistan supports a network of associations nationally. They are involved in engaging patients and medical professions to discuss and explore the current issues. They facilitate teaching about prevention, treatment and coping with the blood disorder.
Patient representatives are also encouraged to participate in highlighting the problem.
Key points are that the blood disorder can be tested with a blood test. If a husband or wife is a carrier of the condition, get prenatal screening and counselling performed.
On a national level, the haematology health care facilities need to be resourced so that they can offer screening, prevention, diagnosis and treatment.
To get further details and information please check the Thalassaemia Federation of Pakistan website;
To all sufferers and professional medical teams have a happy International Thalassaemia Day!