Thalassemia is a genetic blood disorder that affects the body's production hemoglobin, the protein in red blood cells responsible for carrying oxygen. People with thalassemia have fewer healthy red blood cells, leading to anemia and fatigue. The severity of symptoms varies, ranging from mild to life-threatening, often requiring regular blood transfusions and medical care.
Many people know about the various types of anemia including sickle cell anemia. People with anemia don’t have enough healthy red blood cells to carry enough oxygen throughout the body. There are various types of anemia with different reasons this is so. Thalassemia and anemia have an obvious link. Take this opportunity to learn more about the various facets of thalassemia. Topics explored will include symptoms, causes and potential treatments.
Causes of Thalassemia
Thalassemia is an inherited disorder. Parents who have it will pass it on to children. They are passing on a mutation specifically in the DNA of hemoglobin producing cells. In turn, inadequate levels of hemoglobin are produced.
There’s actually two forms of thalassemia because there are two chains of hemoglobin that can be created. These are the alpha and the beta hemoglobin chains. For alpha-thalassemia, one to three of the four genes responsible will be mutated. Two genes will come from each parent. It’s possible to have all four genes mutated, but is incredibly rare, and usually result in early death. Typically, one mutated gene means that the person is only a carrier. Two or three result in symptoms, with three mutated genes having more severe symptoms.
The second type of thalassemia is beta-thalassemia. Unsurprisingly, it comes when the beta hemoglobin chain genes are mutated. Unlike the alpha version, beta hemoglobin only needs two genes. If one is mutated, mild symptoms occur. If both are mutated, it’s known as Cooley anemia or thalassemia major. Symptoms will range from moderate to severe.
Symptoms of Thalassemia
There are several symptoms that can present themselves. The severity of symptoms depends on the type of anemia and how many inherited mutated genes there are. Symptoms often show at birth, or in the first couple of years of childhood. Some common symptoms include:
- Fatigue - This is a common symptom of thalassemia and of anemia as well.
- Weakness - Lack of oxygen throughout the body can result in physical weakness.
- Skin Changes - Typically, the skin can become pale, or it can turn yellowish.
- Bone Deformity - It’s possible for facial bones to grow in a deformed manner.
- Swelling - The abdomen can suffer from excess swelling.
- Urinary Issues - It’s very possible for people with thalassemia to suffer from a very dark urine.
Treatment of Thalassemia
The good news is that for mild forms of thalassemia, there’s no need for treatment. These cases don’t show symptoms. People who have thalassemia should alter their diet to ensure they are getting proper amounts of vitamins and minerals. Avoiding too much iron is important too. Avoiding infections like the flu can help ensure that complications don’t arise.
Serious cases have to deal with other types of treatment. Blood transfusions are often very important as a treatment. Severe cases can require blood transfusions up to every few weeks, which carries the potential for damage to the liver, heart and other organs. Chelation therapy is another option. This removes excess iron from the blood. There are medications which can also help remove the extra blood. A final option is a bone marrow transplant. This can remove the need for constant blood transfusions.