According to Children's Hospital Boston, thalassemia is a group of inherited blood disorders that interfere with the body's production of hemoglobin. Hemoglobin is a protein in red blood cells that helps transport oxygen through the body. Without adequate production of hemoglobin, anemia can result. The two main types of thalassemia are alpha and beta, based on the protein chains that help produce hemoglobin. There are three main variations of beta thalassemia.
Risk Factors and Symptoms
Risk factors for beta thalassemia disorders include having a family history of the disorder, because it is a genetic condition; and having a Greek, Middle Eastern, Italian, and southern Asian and African ancestry, according to the Mayo Clinic. Symptoms of the disease can involve weakness or fatigue, pale or yellowish skin tone, facial bone deformities, and dark urine. Because these symptoms can also be signs of other illnesses, if you have these for an extended amount of time, it is best to see a doctor for a definitive diagnosis.
Beta Thalassemia Minor
This form of beta thalassemia is also called beta thalassemia trait. It causes minor symptoms, and individuals may have no symptoms at all. Mild anemia is often a result of this form of thalassemia, and is commonly mistaken for nutritional anemia. Individuals with beta thalassemia trait have a 50/50 chance of passing it on to their children.
Beta Thalassemia Intermedia
This form of beta thalassemia results in mild to severe anemia. Regular blood transfusions are not needed, but individuals with this form need to see their doctor regularly for disease management to maintain health. During physically challenging events like severe illness or pregnancy, these individuals usually need blood transfusions.
Beta Thalassemia Major
This form has also been called Cooley's anemia and is the most severe form of the disease. Individuals with beta thalassemia major need frequent blood transfusions for survival. Another treatment that people with this form need is called chelation therapy, to release excess iron. In serious circumstances, a stem cell transplant may be an option, but because of the serious risks involved, it is not often done.
Treatment
Because there are different forms of the disease, treatment varies with each type. Some beta thalassemias do not need treatment, just monitoring, while others need intensive treatment and management. Different treatments for beta thalassemia includes blood transfusions, chelation therapy, genetic counseling and stem cell transplantation. Chelation therapy consists of a pill or a subcutaneous infusion of a medication that helps the body excrete extra iron. This is required when numerous blood transfusions cause a buildup of iron.
Living with Beta Thalassemia
Right now, in 2009, there is no cure for beta thalassemia, but there are treatments that have made this once-fatal disease into a disease you can live with. Regular doctor appointments can help manage the disease and monitor for any possible problems, a healthy diet and lifestyle can help with fatigue, and avoiding infections as much as possible helps keep the immune system healthy. There are also support groups and foundations for people living with thalassemia that can help with the stressful aspects of the disease.
