The World Thalassaemia Day is observed on May 8 every year to raise awareness about the ailment among people all across the globe. The day is also dedicated to encourage those struggling to live with the genetic disorder of the blood and commemorate its many victims. The theme for this year is ‘Universal access to quality thalassaemia healthcare services: Building bridges with and for patients’. According to the World Health Organisation, thalassaemia itself is a blood-related genetic disorder that involves the absence of error in genes responsible for production of haemoglobin. Haemoglobin is a protein present in the red blood cells. Thalassaemia can cause varied effects on the human body like iron overload, bone deformities and in severe cases even heart diseases. It has no cure and patient require regular blood transfusions as an effective measure to prolong their lifespan which is both an emotional and financial burden on the family.
Signs And Symptoms of Thalassaemia
A child having thalassaemia, a genetic blood disorder characterised as abnormal or inadequate amount of haemoglobin due to certain mutations in the gene, will show symptoms like fatigue, weakness, slow growth, poor appetite, and anaemia.
Types Of Thalassaemia
Notably, alpha and beta thalassaemias are the most common inherited gene disorders in the world. Alpha thalassaemia is characterised when an individual lacks control over the production of his alpha globins, while beta thalassaemia occurs due to overproduction of beta globins. Beta thalassaemia significantly depletes the production of haemoglobin that is responsible for transmitting the oxygen throughout the body.
India is one of the largest affected countries with over four crore thalassaemia carriers and more than one lakh thalassaemia patients undergo blood transfusions every month.
What is more heart wrenching is that over one lakh patients across the country die before they turn 20 due to lack of proper access to healthcare.
Thalassaemia Screening Important Before Marriage
In most cases, thalassaemia patients are unknowingly passing on the genetic disorder to their children and due to this every year more than 10,000 children are born with thalassaemia major in India alone. According to experts, the trend can only be reversed if couples prioritise to undergo thalassaemia screening before marriage. It is essential that disease progression is halted at the carrier stage.
When two thalassaemia carriers plan to marry and have children there is 25 per cent chance of having of having a thalassaemic baby at every conception.
What couples need to ensure is to undergo a simple blood test for thalassaemia before marriage and know if they are carriers or not. If not they do not need to worry, however, if they are carriers they need to decide whether to not conceive at all or go for a test called amniocentesis within the first 12 weeks of pregnancy to detect if the child is carrier or not.
Awareness plays a major role in curbing thalassaemia and owing to ignorance of parents, patients do not opt for diagnosis and often end up transferring faulty genes to their children.
While premarital screening has been advocated by many experts in India, as a preventative strategy, it has not found much success. Awareness is the only way to reduce the birth of effected children. Getting a simple blood test before marriage could go a long way in saving the lives of many.
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