What is Thalassemia
Thalassemia is the most common, inherited single gene disorder in the world. Thalassemia is a blood disorder that is passed from one generation to the next. It is actually a group of inherited disease of the blood that affect a person's ability to produce hemoglobin, resulting in anemia. Thalassemia occurs most frequently in people of Italian, Greek, Middle East, Southern Asia and African Ancestry. According to studies, more than 4% of Singaporean suffer from Thalassemia.
Thalassemia is a genetic disease. This means that a person can only get Thalassemia disease or trait by inheriting the genes for Thalassemia from their parents. Genes determine what we look like, such as hair color, and are also responsible for many diseases. Inheritance of Thalassemia happens purely by chance–there is nothing that parents do, or do not do, that will cause their child to inherit Thalassemia. Thalassemia is never 'caught' by another person in the way that a cold or flu is transmitted. People with Thalassemia disease and trait are born with it.
The two main types of Thalassemia are called "alpha" and "beta", depending on which part of an oxygen-carrying protein in the red blood cells is lacking. Both types of Thalassemia are inherited in the same manner. The disease is passed to children by parents who carry the mutated Thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called "Thalassemia Trait". Most carriers lead completely normal, healthy lives. A child who inherits two Thalassemia trait genes - one from each parent - will have the disease. A child of two carriers has a 25 percent chance of receiving two trait genes and developing the disease and a 50 percent chance of being a Thalassemia trait carrier. Most individuals with aplha Thalassemia have milder forms of the disease, with varying degrees of anemia. The most severe form of alpha Thalassemia can result in fetal or newborn death. A child who inherits two copies of the mutated gene for beta Thalaseemia will have beta Thalassemia disease. The child can have a mild form of hte disease, known as Thalassemia intermedia, which causes milder anemia that rarely requires transfusions. The more severe form of the disease is Thalassemia Major, also called "Cooley's Anemia". It is a serious disease that requires regular blood transfusions and extensive medical care. Those with Thalassemia Major usually show symptoms within the first two years of life. They grow slowly and often develop jaundice. Without treatment, the spleen, liver and heart soon become greatly enlarged. Bones become thin and brittle. Heart failure and infection are the leading cause of death among the children with untreated Thalassemia Major. The use of frequent blood tranfusions and antibiotics has improved the outlook for the children with Thalassemia Major. Drugs known as "iron chelators" can help rid the body of excess iron, preventing or delaying problems related to iron overload. Thalassemia has been cured using bone marrow transplants. However, this treatment is possible only for a small minority of patients who have a suitable bone marrow donor. Blood tests and family genetic studies can show whether an individual has Thalassemia or is a carrier. If both parents are carriers, they may want to consult with a genetic counselor. Testing Available for Thalassemia Trait and Disease
For more information on Thalassemia, please visit Northern Comprehensive Thalassemia Center |
