Thalaessaemia patients can’t die prematurely just because they don’t have drugs. There are other factors to consider as well”.
So says Dr R. Mudiyanse, Consultant Paediatrician and lecturer at the University of Peradeniya.
In a frank interview with The Nation, Dr Mudiyanse, who admits that he himself is a thalaessaemia carrier said, “To say that temporary drug shortages can kill a thalassaemia patient is an emotional and irresponsible statement. You need to understand all sides of this disease, to make a fair judgement. Let me explain why these patients need drugs. The reason is that regular blood transfusions are essential for thalassemia patients, because unlike in normal persons where the red cells live upto 120 days, the red cells in thalessaemia patients are broken down in a much shorter time. Then they become anaemic, and so need blood transfusions. Those with severe thalassemia need to have blood transfusions every month, for life. With each pint of blood given them, there is iron accumulation. This is because blood in our body contains a great deal of iron. This iron when accumulated over a long period can become toxic to the body as it releases electrons that can damage cell membranes in the body. In the heart it can cause heart failure, in the pancreas it can lead to diabetes, in the liver result in cirrhosis, the pituitary glands resulting in stunting, in the gonads (ovary) it can prevent them from attaining maturity. It is to avoid these complications that they need iron removal drugs.”
What are these drugs? Are they available in the hospitals?
“There are 3 types of drugs which we give our patients. One is an injection taken once a day and which requires a 12 hour infusion. The other two are tablets, taken 3 times a day and once a day respectively. Whatever the iron that is accumulating in their cells due to a blood transfusion can be removed only by taking these drugs for 25 days every month. This has to be repeated each month after every blood transfusion.”
So if they don’t have the drugs will it shorten their lifespan?
“Patients can’t die overnight just because they don’t have a certain drug. Iron accumulation in the cells is a long process. But if they fail to take the drugs or have a blood transfusion on a long-term period, it can lead to premature death”.
He reiterated that for patients to lead a full life they required to take their blood transfusions and drugs on a regular basis. “If they take their blood transfusions regularly they can live upto 20 years, even without drugs. But our patients don’t do this. That is why most patients in Sri Lanka die before 20 years. Of course, it is not easy to have a blood transfusion every month, but they must comply with this requirement. So non-compliance to this basic requirement is the main cause for them dying prematurely”.
And patients who did comply with these requirements?
“They can live upto 50 or 60 years and above and lead normal lives, get married, become lawyers, engineers, doctors etc”.
He admitted, however, that administration of sub quality drugs for a long period could have adverse effects and lead to early death.
Currently Sri Lanka has an estimated 4% population with thalassemia. There are around 100 new patients born every month and an estimated 2,000 patients every year.
Each year the state is required to spend between 100,000 to 300,000 on a patient. This puts an unbearable burden on the government as all the drugs and transfusions are given free. What is important thus is prevention of the disease – through education and awareness raising”, he stressed.
Dismissing the popular belief that consanguinity or first cousin marriages are the underlying cause, he said, “While consanguinity is a risk factor for having thalassaemia babies, it is not the only cause. The main cause is conception between two carriers, which carries a high risk for resulting in them having a thalassaemia baby. So conception between two carriers (i.e. where the mother and father are both carriers) must be avoided at all costs. If a person knows he is a carrier, and wants to get married, he should get his future spouse to be tested to see if he/she is a carrier or not. If, on the other hand, you are not a carrier, then you needn’t worry about checking to see if your prospective bride or bridegroom is a carrier, as both should be carriers to produce a thalassaemia baby.”
However, he also pointed out, “In a conception between two carriers usually only about 25% of babies get thalassaemia. According to our statistics, we can assume that every year, we have about 400 conceptions between two carriers resulting in around a 100 births of thalassaemia babies. Hence we can assume there are about 200 such high risk marriages between two carriers happening every year. This is the group we should target so as to prevent these marriages taking place. And for this, I reiterate, testing the blood of your future partner is important if you are a carrier, to rule out that the latter is not a carrier as well”.
Do you recommend that testing be mandatory?
No. It has to be a responsible decision. My message is: “If you are a carrier then don’t take the risk of marrying another carrier. The only way to know this is by getting your would be partners for life tested before marriage”.
The Nation also spoke to Professor Priyani Soysa, Consultant Paediatrician, who was among the pioneers to have raised awareness on Thalassaemia in the late 50’s while working at the Kurunegala hospital. “It was the late Professor C.C. de Silva who observed the disease in the 1940’s. Then when I had many babies and older patients coming to the hospital for treatment, I began an awareness raising programme, to discourage consanguinity which I found was one of the leading causes for the disease
Not all first cousins marriages result in thalassaemica babies. But those who have minor thalaessemia which is a recessive disorder can result in major disorder when blood cousins marry.”
She too says that testing should not be mandatory as it will be infringing on Human Rights.
“On the other hand, people must be made aware and educated on the disease, so that one carrier will not marry another carrier of the disease”.