Thalassemia is an inherited blood disorder in which the body is unable to make adequate hemoglobin. Most of our physical characteristics are inherited through the genes we take from our parents; for example, the shape of our nose, the colour of our skin and eyes. We also inherit our hemoglobin (Hb) type from our parents, through the genes. Hemoglobin is present in the red cells and is made from proteins. These proteins consist of alpha(α) and beta(β) chains. Normally 2 alpha and 2 beta chains are essential to form hemoglobin. Imbalances in these chains results in reduced red cell survival. The amount of beta and alpha chains a person makes is controlled by the hemoglobin gene they inherit from their parents Normally red cells survive for 120 days but in Thalassemia red cell survival is reduced. Survival of Thalassemia patients depends upon repeated blood transfusion and costly medicines. In our country beta Thalassemia is very common and the term Thalassemia denotes beta Thalassemia.
Thalassaemia is an inherited disorder of the red blood cells. These cells contain the hemoglobin molecule, which is responsible for binding oxygen from the air we breathe and carrying it to the tissues where energy is released. In Thalassaemia one of the components of the hemoglobin molecule is inadequately produced or not produced at all. If there is lack of α chain production then the result is known as α thalassemia. If the component that is lacking is the α chain, then the resulting condition is α thalassemia. The reason for the inadequate or non- production of these components is a change in the genetic code (mutation), in that part of the DNA, which is the template for the production of the protein. The mutation or altered gene cannot initiate the process, which hamper the production of necessary amount of protein. Genes, sections of DNA responsible for a protein, are carried on chromosomes and each individual has a pair: one chromosome from each parent. A mutation may exist on one chromosome of a pair, but not on the other. The protein produced by the one, healthy, and chromosome is enough to keep the individual well, even though his/her red cells are smaller than normal. Such an individual is known as a carrier (or heterozygote) who can only be detected by special blood tests. A carrier may give his/her offspring either the healthy chromosome or the one bearing the mutation. Severe thalassaemia (Thalassemia Major) will result if a child inherits the abnormal (mutation bearing) chromosome from both parents. In other words both parents must be carriers if a major Thalassaemia disorder is present in the child. This situation is known as homozygous thalassemia.
Prevention Of Thalassemia
Prevention is better than cure, Thalassemia is a completely preventable disorder.It is suggested the following prevention policies can be adopted to reduce affected births by doing blood tests (HbA2 estimation) and save resources so that the best possible treatment can be made available for already existing cases.
Management and Treatment
Epidemiology of Thalassemia
There are an estimated 60-80 million people in the world who carry the beta thalassemia trait alone. This is a very rough estimate and the actual number of thalassemia Major patients is unknown due to the prevalence of thalassemia in less developed countries in the Middle East and Asia. Countries such as India, Pakistan and Iran are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening. Most of them die in early life, often without a diagnosis or because of inadequate treatment. There is growing concern that thalassemia may become a very serious problem in the next 50 years, one that will burden the world’s blood bank supplies and the health system in general.