Government needs to adopt pro-active measures to fight Thalassemia major.
India has a population of 1.3 billion people and 3-4 per cent of them are at risk of inheriting a genetic disorder. But most of them remain oblivious to the possibility of facing a distressing situation when they marry and start a family. I was one among these 40- 50 million people and was thrown into such a situation when my son AMIT was born. My wife and I are both carriers of a defective gene and are in an asymptomatic condition known as Thalassemia minor or trait. We have absolutely no health problem and the fact that we are Thalassemia minor came to light only when Amit was born. When two Thalassemia minors marry and start a family there is a one in four or 25 percent chance that a child may be born with Thalassemia major.
Thalassemia major is an inherited genetic blood disorder which manifests as a severe form of anaemia in the first year or two after the birth of a child. Their body does not produce enough Red Blood Corpuscles (RBCs) and hence, to survive, these children need to get blood transfusions every two-three weeks throughout their lives. When he was nine months old, we noticed that Amit was not growing normally, was pale to look at and not very active. Soon, he was diagnosed as having Thalassemia major and to confirm that both of us were tested and found to be Thalassemia minors.
We were advised to get him transfused with saline washed RBC packed cells as his haemoglobin level was very low. Repeated blood transfusions gave rise to accumulation of iron in his body which started affecting various organs. This complication had to be mitigated by his having to be given iron chelator medicine daily. The most effective iron chelator medicine is an injection called Desferal. This injection is required to be administered very slowly over 8 to 10 hours daily using an electronic infusion pump. The pump and Desferal are imported expensive and beyond the reach of most families. Since 1995, cheaper oral iron chelators (Kelfer, Desirox, Deferijet) are available and can be used based on the extent of iron overload in the body.
Prolonged blood transfusions and other treatments give rise to complications that affect the functioning of other organs like liver, spleen, heart, etc and need periodic medical monitoring of serum ferritin (iron overload). The risk of infections like HIV, Hepatitis B & C, etc. is not uncommon. The trauma the child undergoes continuously, besides the financial, physical and emotional burden on the parents is unimaginable. We looked after Amit and made sure that he had the best of medical care for 18 years. But ironically, he became a victim of HIV infection acquired due to repeated blood transfusions and he departed for his heavenly abode in 1997.
In our country about 10 to 12 thousand Thalassemia major children are born every year. It is estimated that there are about two lakhs such children undergoing regular blood transfusions and related treatments. A comprehensive care of a Thalassemia major child could cost up to Rs 2 lakhs per annum and this has to go on for a lifetime. While the average carrier status is 3-4% of our population, the incidence is more pronounced in certain communities. like Sindhis, Punjabis, Marwaris, North Indian Muslims, and Gujarati Kutchis, Lohanas, Bhanushalis, etc.
“Prenatal diagnosis needs to be adopted in India, to prevent the birth of 10-12 thousand children born with Thalassemia major”
The only cure for this disorder is Bone Marrow Transplantation (BMT), a very specialized procedure available to those who have a HLA matching sibling donor. The cost would be Rs 10-20 lakhs. How many of our Indian children and parents can afford this curative option? Therefore, most of Thalassemia children are destined to suffer for lifetime.
If Thalassemia is such a grave and distressful problem, is there any way to prevent it? Yes, of course, there is a method of prenatal diagnosis that is available. But, this is not practiced commonly due to ignorance, social taboo, etc. In many other countries like Cyprus, Sardinia, UAE, Pakistan, etc. although their population is relatively small, Thalassemia prevention has been made mandatory. This is in addition to making people aware of the serious consequences of this disorder. In Italy, Gynecologists are well-informed and they act in a responsible manner. The doctors will be sued if they fail to prevent the birth of a child with Thalassemia major. The problems in our country are compounded by a very big population, perennial shortage of blood availability, high cost of medical treatment in the absence of public funded healthcare and government apathy towards such a grave national health issue to name a few.
An effective prevention program puts the onus on Gynaecologists as they can play a responsible role by asking for a Thalassemia screening test at the first pregnancy of every Indian woman just as they do for several other tests. If the woman tests positive, she is Thalassemia minor or trait which is totally asymptomatic. Then, her husband should also be tested similarly. If both are positive or Thalassemia trait there is a one in four (25 percent) chance that the fetus could be Thalassemia major. Genetic counselling should be offered for the whole family including medical termination of pregnancy where advised. This way, there is an opportunity to prevent the birth of children with Thalassemia major and spare the child, parents and families of lifelong suffering.
To make this a reality affirmative action is called for at the Government level categorizing it as a maternal/child health and public health challenge. Thalassemia screening test at the first pregnancy of every woman should be made a legal mandate for the Gynaecologists in the country. Alongside the legal mandate, a public awareness campaign should be mounted through various media in order to sensitise every woman and encourage her to demand for the Thalassemia screening test at first pregnancy.
Some experts advocate population screening for Thalassemia at schools and colleges by testing students and giving them a report on their Thalassemia trait status. The belief is that they would be counselled not to marry a person with similar Thalassemia trait. The impracticality of this approach in the social and cultural fabric of the society we live in needs no emphasis. Besides, such test at a young age is likely to demoralise them, make them feel inadequate and perhaps carry a stigma.
As Amit’s father, having experienced life with a Thalassemia major child for 18 years, I look forward to India becoming free of Thalassemia in the years to come. I believe this is doable and must be done.
