There is a plethora of diseases that frustrates the balance of healthy living in the world today. Some may be curable whilst cures for others remain unknown. However the kinds of disorders that we have no control over makes the scenario quite unfortunate. Hereditary diseases come under this category.
There are various hereditary conditions prevalent in Sri Lanka. Yet Thalassemia is considered the most common hereditary disease in the island. Dr. Lalindra Gooneratne, Senior Lecturer and Head of the Department of Pathology and Honorary Consultant Haematologist at the Faculty of Medicine of the University of Colombo, provided insight on Thalassemia, explicating it’s cause, symptoms, diagnosis and treatment.
It has been said that approximately 60 new patients who suffer from major Thalassemia are born every year in the country and roughly 2000-3000 patients receive treatment for this condition at any given time. More cases are reported from districts like Kurunegala and Anuradhapura. However Dr. Gooneratne stated that there could be a drop in figures due to awareness being raised and the various treatment options available.
“Thalassemia is a hereditary disease. A mutation in the genes lie responsible for causing Thalassemia,” said Dr. Gooneratne. He explained that when a child is born with just one mutated Thalassemia gene, the child becomes a carrier of the disease. However being a carrier does not mean that the child will suffer from Thalassemia. Though the child will carry the gene for the disease, he or she will be able to live a completely normal and healthy life, free of symptoms. “If the mutated Thalassemia gene is passed down from both maternal and paternal sides, the child will most likely become a Thalassemia patient,” he underscored.
Haemoglobin is a pigment that is present in red blood cells. It gives the red blood cells their colour. More importantly it is responsible in the transportation of oxygen throughout the body. Dr. Gooneratne elucidated that Thalassemia is a blood disorder where an abnormal and reduced production of haemoglobin takes place, which consequently leads to anaemia.
Haemoglobin consists of 2 components. ‘Haem’ which means iron and ‘globin’ a protein. The faulty gene responsible for causing Thalassemia affects the globin protein production. Accordingly Thalassemia is categorized into 2. “There are 2 types of globin proteins, alpha proteins and beta proteins. A fault in the gene responsible in producing the alpha protein will result in the reduction of alpha globin production. This leads to alpha Thalassemia whereas a mutation in the beta protein producing gene will cause a reduction in beta proteins. This leads to beta Thalassemia,” explicated Dr. Gooneratne. According to the haematologist, the type of Thalassemia which is predominant in Sri Lanka is beta Thalassemia.
Since Thalassemia is congenital, symptoms appear 3-6 months after birth. “Infants will become pale, lethargic and inactive. The stomach will appear swollen. Such symptoms are warning signs to the parents to immediately seek medical attention,” he affirmed.
Upon consultation , a blood test will be called for. Dr. Gooneratne stated that the haemoglobin level will be checked through the test along with the changes of a few other components before the condition is affirmed. HPLC which stands for High Performance Liquid Chromatography is available as the standard test for the diagnosis of thalassemia.
According to the Haematologist, when speaking on general terms, Thalassemia is a condition which requires lifelong treatment. However at present there appears to be a cure through bone marrow transplantation though this is a possibility only open to a minority of the patients. “Treatment calls for the necessity of the patient to receive blood transfusions on a monthly basis. This is the main and most common treatment received by Thalassemia patients,” said Dr. Gooneratne.
However regular blood transfusions give rise to another complication. “Due to the transfusion of blood and thereby haemoglobin to the patient, this ultimately leads to an increase in the iron deposit in the body. This is adverse to the health. Iron will get deposited in organs like the liver. The activity of the organs decrease and it could lead to fatality. If the excess iron is not removed, it could cause organ damage. Liver failure, heart failure and even diseases like diabetes are some of the consequences. Growth and development of the child would also be affected,” he accentuated. The doctor stressed that blood transfusions should be accompanied by parallel medication in order to remove the extra iron from the body.
Although transfusions lead to such complications, it should be noted that they are a necessary part of the treatment. Dr. Gooneratne warned that if blood transfusions are not done, organs like the liver and spleen of the patient would swell. Dire consequences will follow. Therefore visits to the hospital for blood transfusions is important and must be accompanied by the removal of excess iron to avoid an iron build up in the body.
Where there’s life, there’s hope
Today Thalassemia patients in Sri Lanka can be assured that there is hope for life. “Bone marrow transplantation is now an option. However it is more important to focus on reducing the occurrence of Thalassemia patients in future. Prevention is better than suffering through treatment later,” he mentioned. However as Thalassemia is a hereditary disorder, one might say it is up to fate and your genes to determine whether you contract the disease or not. There is a way through which the occurrence of Thalassemia in the country can be minimized. “Carriers are people who are not in danger of the disease, but carry the faulty gene nevertheless. When 2 carriers marry and have children, there is a 25% probability that the child may fall victim to Thalassemia. Therefore before marriage it is advised to check for the presence of the faulty gene responsible in causing Thalassemia. It is just a matter of getting a blood test to determine the presence of the mutated gene,” Dr. Gooneratne said. This could help in the taking of better decisions and avoid an increase in Thalassemia patients. Increase in Thalassemia is a burden to the country as well as the patient and the family. It is costly for the country to provide the blood and necessary equipment for treatment with regard to the ascending numbers of patients. Meanwhile the patient suffers physically as well as emotionally throughout the disease. Therefore small steps taken to reduce such instances in future go a long way in creating a healthier nation.