Thalassaemia is an inherited blood disorder. People who suffer from thalassaemia produce too little (or even no amount) haemoglobin, which is used by the red blood cells to carry oxygen around the body. Since thalassaemia is a genetic condition, a person who has the disease has a parent who is a carrier of the condition. In India, thalassaemia is a significant health burden as on an average over 10,000 children are born every year with this condition. Nearly 50 per cent die by the age of 20 due to poverty and lack of treatment. Further, over four million Indians are thalassaemia carriers, and more than one lakh are patients.
Types of thalassaemia
Two significant genes are affected in a thalassaemia patient, namely the homozygous and heterozygous. However, the severity of the condition depends on the number of defective genes a person inherits in his DNA. Also, there are three main types of thalassemia: beta-thalassemia (with subtypes major and intermedia), alpha-thalassemia (with subtypes haemoglobin H and hydrops fetalis) and thalassemia minor. Every type and subtype of thalassaemia can have varying severity and symptoms.
Symptoms
Bone deformities (especially in the face)
Dark urine
Delayed growth and development
Excessive fatigue
Yellow (or pale) skin
Not everyone has visible signs at birth, and some symptoms may show up later in the patient’s life, like during their childhood and adolescence.
Treatment
The treatment will depend on the severity and type of disease. If a person shows symptoms of the condition or has parents who are carriers of the disease, they must consult an expert at the earliest. They will be able to chart the best possible outcome. Standard treatment options include blood transfusions, bone marrow transplants, oral medicines, and even surgery. It is also essential that thalassaemia patients do not consume supplements or medications containing iron, as blood transfusions can accumulate extra iron that the body might find difficult to remove and therefore result in fatal outcomes. While it’s difficult to pinpoint an exact life expectancy for thalassaemia patients, the general rule is that the more severe the condition, the lower the life expectancy. A person is suffering from mild or minor forms of thalassaemia, can lead a normal life with minimal support.
Since thalassaemia is an evolving disease, researchers continue to explore genetic testing and the possibility of gene therapy. It is also critical that all babies born should be tested with the help of HPLC (High-performance liquid chromatography), so that the nature of their haemoglobin is identified. These steps will help us to completely eradicate thalassaemia from its roots.
(The writer is Director, Haematology & BMT Dept., Fortis Hospital Mulund)
