Dr. Shantha Hettiarachchi
The marriage is expressed by the most of Sri Lankans as Bamba ketoo hati in their words. It means that the marriage is decided through unseen powers such as Brahma.
Prior to the marriage, matching of the partners will take place according to their ethnic and religious concepts too. Nevertheless, it may get revealed that this type of matching, is incomplete when the couple get a new born baby with hereditary disorders. Hence, a few more matching of marital partners should be completed to avoid these easily preventable problems.
Thalassemia represent a higher position in the list of preventable hereditary disorder through screening, clinical matching and marriage counseling. It has a long history, over 50,000 years in the world. Thalassemia is derived from a Greek word of Thalasa means ‘sea’ because it was found in a valley south of Italy and Greece covered by the Mediterranean sea.
The Thalassemias are the commonest inherited haematological disorders and also the commonest single gene disorders in the world population. It is also a major cause of mortality and morbidity in South East Asian region. It is a significant burden to the health services and economy of many countries.
A basic knowledge on blood and anaemia is necessary to understand about thalassemia. The blood consists of cells and the liquid part of plasma. The white blood cells, red blood cells and platelets represent the cellular elements of the blood. A red coloured, oxygen carrying pigment, called hemoglobin is found in the red blood cells. Hemoglobin is essential for body metabolism as it carries oxygen to the cells of every tissues and organs. A person will develop anaemia, when there is a decrease in the level of hemoglobin in the blood below the reference level for the age and sex.
This genetic hemotological disorder of thalassemia is characterized by absent or decreased production of normal hemoglobin, resulting an anaemia. The hemoglobin molecule consists of a hem and globin. The protein moiety of globin synthesis is impaired, as there is a mutation of the genes in thalassemia. According to these mutations, synthesis of the main globin chains, namely alpha and beta is markedly reduced. Eventually, it leads to a decreased production of haemoglobin with anaemia. Then the disease state is named as beta thalassemia or alpha thalassemia, depending on the relevant type of globin chain, production of which is impaired due to this disorder.
There are two forms of thalassemia, called as thalassemia major with clinical manifestations and thalassemia minor without clinical manifestations. Thalassemia major is a severe inherited childhood anemia in which hemoglobin synthesis is highly inadequate. These children are normal at birth but become grossly anaemic within the first year of life with failure to grow, poor feeding, intermittent fever and delay in improving from recurrent infective illnesses.
They need regular blood transfusions in life to avoid fatal complications and to secure optimum growth and development. As the red blood cells in the transfused blood are broken down, the iron released from these cells are accumulated in their body. The overload of iron can damage the vital organs, such as heart, liver and pancreas to cause heart failure, liver disease and diabetes. Therefore iron chelation therapy with the drugs such as Desferrioxamine has to be continued concurrently with blood transfusion to avoid these complications by removing extra iron from the body.
The persons with thalassaemia minor, known as carriers of thalassemia are healthy and normal but some of them can manifest milder degree of anemia. This carrier stage is commonly discovered while they are undergoing a test of blood picture for some other circumstances.
The beta thalassemia is the most important form of thalassemia, causing a major public health problem in many countries. It was estimated that 1.5 percent of world population are carriers of beta thalassemia and around 70,000 beta thalassemic babies are born annually.
The alpha thalassemias are commoner than the beta thalassemias but the consequent public health problems are less as the mild form of the disease do not produce major disabilities.
Currently, more than 2500 children are living with thalassaemia major in Sri Lanka. The highest number of patients are reporting in Kurunagala, Kandy, Anuradhapura and Badulla districts. About one hundred new patients are accumulating to the total number annually.
The country has to allocate 7 percent to 10 percent from total health expenditure for the clinical management, necessary for these patients. It was stated that the expenditure is around ten million rupees in managing one thalassaemic patient in a lifetime.
If both partners are thalassemic carriers there will be a 25 percent chance of giving birth to baby with thalassemia. If the thalassemic carrier marries a normal partner there will be no risk of getting a thalassemic baby.
There is no possibility in having a thalassemic baby, when there is a marriage between a thalassemic patient and a normal partner too. Therefore, prevention from thalassemia is not a difficult task if the people have a basic knowledge on these simple scientific facts.
The thalassemia carrier state could be identified by simple blood tests. It is very important to know whether they are carriers of the disease prior to marriage, especially when they are living in areas with high prevalence of thalassemia, such as North central, North Western, Uva, Central and Western provinces of Sri Lanka.
The one essential act to avoid is the marriage between two thalassaemic carriers. As the facilities in screening for thalassemia and counseling are currently available provincially, the public will have the responsibility to use these services wisely.
May 8 marks the World Thalassemia Day. It should be noted that the quality of life of the thalassemic patients, is improving from day to day with the advances in treatment. While giving proper care to the people who has developed the disease, every body should try their level best to prevent the disease.
