Thalassemia is a medical condition in which people suffer from anemia as a result of low hemoglobin in their blood. This is an inherited disorder, which means that thalassemia is transferred from a parent to a child. People who suffer from extreme thalassemia are usually diagnosed with the condition right from their childhood and have to live with it for their entire life. Below, we look at six things you must know about thalassemia.
Types Of Thalassemia
Among the various types of thalassemia, the two main ones are alpha and beta thalassemia. There are four genes that are required to create the hemoglobin alpha globin chain in the body. If one or more of these genes are missing in your body, then you are at risk of alpha thalassemia. Similarly, when one or more of the genes that are required to make the hemoglobin beta globin chain is not present, then beta thalassemia occurs. While alpha thalassemia can cause severe anemia and miscarriages, beta thalassemia is more often seen to cause moderate to severe anemia. Beta thalassemia is the most commonly found type of thalassemia.
Forms Of Beta Thalassemia
There are two forms of beta thalassemia – thalassemia minor and major. People who have thalassemia minor only have a single copy of the beta thalassemia gene. In contrast, those with thalassemia major have two beta thalassemia genes. People with thalassemia minor will generally have a small deficiency of iron, which can also cause anemia. Children who are born with thalassemia major will soon start exhibiting diarrhea, fever etc. very soon after birth.
Though there are many symptoms of thalassemia, the nature and extent of such symptoms will largely depend on how severe the condition is. In addition to anemia, people suffering from thalassemia might start to experience weakness and fatigue all through the day. The skin might start becoming pale and may even look jaundiced. Such people might also see that their urine is dark in color rather the being naturally clear. Their liver and spleen are also likely to be enlarged, with their abdomen protruding outward. So, if you see any of these symptoms, then it is recommended that you visit a good doctor for a medical inspection. Check out XpertDox to find out doctors in your area who specialize in beta thalassemia.
The most often used method for diagnosing thalassemia is through a blood test. If the hemoglobin and red blood cell count is low, then it can indicate the presence of thalassemia. In addition, such people may also have smaller red blood cells. And if the anemia that a person is suffering from is caused by beta thalassemia, then the blood test will show a deficiency of iron. A study of the family genetics can also be used to diagnose beta thalassemia. And in the case of an unborn child, there are several prenatal tests which can be used to determine whether the baby is suffering from thalassemia or not.
Thalassemia is transferred from parent to child in a process that is known as an autosomal recessive pattern. If a person has at least one beta thalassemia gene, then chances of their children having major thalassemia are very high. In fact, the child has a 25% chance of suffering from major thalassemia and 50% chance of having thalassemia minor. However, there is a 25% chance that the child may never have either thalassemia major or minor.
People with thalassemia have different treatment options available to them, like blood transfusions, bone marrow transplants, iron chelation etc. The type of treatment they should undergo will depend on the severity of the thalassemia. If the person is only suffering from a moderate thalassemia, then occasional blood transfusions will be sufficient to keep them healthy. However, severe cases of thalassemia will warrant regular blood transfusions, which can be scheduled to be conducted once or twice per month. This does come with a side effect that regular transfusion of blood will increase the iron content in the blood, which can later go on to damage the heart and liver. And this is where iron chelation therapy comes in. This treatment will remove the excess iron from the body, helping you to do regular blood transfusions without having to worry about any negative effects. For children who are diagnosed with thalassemia early on, a bone marrow transplant is also an option. However, do keep in mind that this is a very risky process which is only advised to a few children after taking into account the severity of thalassemia affecting them.