This is an inherited condition that is passed to children through the genes of their parents. This is a blood disorder that occurs when the body does not make enough of a protein that is called haemoglobin. This protein is necessary for red blood cells to carry oxygen throughout the body and to prevent anaemia. Thalassemia is categorised as minor, intermediate, or major based on the severity of the symptoms.
People with moderate or severe forms of Thalassemia often get diagnosed early in life. However, those with the “minor” form of the disease might not exhibit any symptoms, or their symptoms could be so mild that they do not get diagnosed with the condition.
The most common symptoms of Thalassemia are:
Some babies show signs of this condition at birth, but many children develop symptoms within the first two years of life.
Thalassemia is caused by mutations in the DNA that make haemoglobin. This is the substance in the red blood cells that allows oxygen to be carried through the body. Alpha-thalassemia and Beta-Thalassemia are often identified during diagnosis. Each type indicates the specific haemoglobin molecule that is not being synthesised by the body. Four genes are involved in the making of an alpha haemoglobin chain, and you must inherit two from each parent. In beta-thalassemia, two genes are necessary to make the correct haemoglobin chain. You will get one from each parent.
The number of mutated genes that are inherited from a patient’s parent dictates the severity of the symptoms associated with the condition. This is a factor in the classification of the disease between minor, intermediate, or major as well.
The main risk factors for Thalassemia are:
Most children with intermediate or major thalassemia are diagnosed early due to the appearance of the symptoms of this condition. Blood tests are done to look for the number, size, and appearance of red blood cells. Blood tests can also be used to look for DNA markers for the mutated genes which cause thalassemia.
Prenatal testing can be done before a baby is born if the parents are aware of the risk that they could transmit the genes that cause the condition. Amniocentesis and chorionic villus sampling can both be used to diagnose this condition before a baby has been born.
There is no way to prevent this condition. It is a genetic condition. People thinking about having children can undergo DNA testing to see if they carry the genes that can cause the condition, but that is the closest thing to prevention that is possible with this condition.
Treatment of thalassemia is done primarily via blood transfusion. However, there are some complications related to treating the anaemia that is associated with this condition, such as a build-up of iron in the blood. This build-up of iron can lead to damage to the heart, liver, and other organs.
Chelation therapy can be done to maintain the correct level of iron in the blood to allow those with thalassemia to continue to get transfusions. There are also oral medications that help remove excess iron, like Exjade or Jadenu. In some cases, a stem cell transplant is done. This treatment requires that stem cells be obtained from a compatible donor, typically a sibling. The stem cells are then given to the affected patient. This can sometimes prevent the need for lifelong blood transfusions for those suffering from this condition.