Thalessemia Explained: Symptoms, Diagnosis, and Care Strategies
Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.
Common Symptomps
There are several types of thalassemia. The signs and symptoms you have depend on the type and severity of your condition.
Thalassemia signs and symptoms can include:
- Fatigue
- Weakness
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:
- One mutated gene, you’ll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
- Two mutated genes, your thalassemia signs and symptoms will be mild. This condition might be called alpha-thalassemia trait.
- Three mutated genes, your signs and symptoms will be moderate to severe.
Inheriting four mutated genes is rare and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition can be treated with transfusions and a stem cell transplant.
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:
- One mutated gene, you’ll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia.
Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also can result from two mutated genes
Factors that increase your risk of thalassemia include:
- Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes.
- Certain ancestry. Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.
Possible complications of moderate to severe thalassemia include:
- Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system, which includes hormone-producing glands that regulate processes throughout your body.
- Infection. People with thalassemia have an increased risk of infection. This is especially true if you’ve had your spleen removed.
In cases of severe thalassemia, the following complications can occur:
- Bone deformities. Thalassemia can make your bone marrow expand, which causes your bones to widen. This can result in abnormal bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones.
Enlarged spleen. The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells. This causes your spleen to enlarge and work harder than normal.
An enlarged spleen can make anemia worse, and it can reduce the life of transfused red blood cells. If your spleen grows too big, your doctor might suggest surgery to remove it.
- Slowed growth rates. Anemia can both slow a child’s growth and delay puberty.
- Heart problems. Congestive heart failure and abnormal heart rhythms can be associated with severe thalassemia.
Common Causes
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. In thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha-thalassemia or beta-thalassemia.
In alpha-thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. The more mutated genes, the more severe your thalassemia.
In beta-thalassemia, the severity of thalassemia you have depends on which part of the hemoglobin molecule is affected.
Treatment
Mild forms of thalassemia trait don’t need treatment.
For moderate to severe thalassemia, treatments might include:
- Frequent blood transfusions. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs.
Chelation therapy. This is treatment to remove excess iron from your blood. Iron can build up as a result of regular transfusions. Some people with thalassemia who don’t have regular transfusions can also develop excess iron. Removing the excess iron is vital for your health.
- Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant might be an option in some cases. For children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.
Diagnosis
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests.
Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.
Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it might be. Tests used to diagnose thalassemia in fetuses include:
- Chorionic villus sampling. Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation.
- Amniocentesis. Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus.
A healthy lifestyle is important for everyone. For people with thalassemia, it is especially important to know that a healthy lifestyle means “managing the disorder”. It is also important to make healthy choices.
Managing thalassemia
Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy. A person with thalassemia will need to receive medical care on a regular basis from a hematologist (a medical specialist who treats diseases or disorders of the blood) or a doctor who specializes in treating patients with thalassemia. If a doctor has prescribed either blood transfusions or chelation therapy, the most important thing a person with thalassemia can do is stick to their transfusion and chelation schedules to prevent severe anemia and possible organ damage from iron overload, respectively.
Other healthy choices a person with thalassemia might consider include keeping vaccinations up-to-date, eating nutritious meals, exercising, and developing positive relationships.
Vaccines
Vaccines are a great way to prevent many serious infections. Children and adults with thalassemia should get all recommended vaccinations, including a flu vaccination. People with thalassemia are considered “high risk” for certain infections, especially if they have had their spleen removed, and should follow a special vaccination schedule for the following vaccines:
Haemophilus influenzae type b (Hib)
See the most up-to-date vaccination schedules. Pay special attention to the footnotes that provide special instructions for people with thalassemia.
Nutrition
Eating nutritious foods is important for everyone to maintain a healthy lifestyle – a diet, high in fruits and vegetables and low in fats is ideal for gaining the essential nutrients our bodies need. For people living with thalassemia, because too much iron may build up in the blood, foods high in iron may need to be limited. Iron can be found in meat, fish, and some vegetables (e.g., spinach). Other products, like cereal and orange juice, may contain extra iron. Persons with thalassemia should discuss with their doctor whether or not they should limit the amount of iron in their diet.
Exercise
Exercise is part of an overall healthy lifestyle and helps lead to better health outcomes. Although some people with thalassemia may have trouble participating in vigorous forms of exercise, many people with thalassemia can participate in moderate physical activities including biking, running, and walking. If a person with thalassemia has problems with their joints, there are many kinds of low-impact activities to choose from including yoga, swimming, or water aerobics. If you have thalassemia, you should discuss with your doctor the level of exercise that would be best for you.
Relationships
Having warm, supportive relationships is an important part of life. Friends, including co-workers, classmates, and family members can offer support in managing thalassemia (e.g., offering a ride to the transfusion center, gentle reminders about your chelation schedule.) and coping with stress of daily life.
Living with Thalessemia
- For people with thalassemia, a healthy lifestyle means managing the disorder and making healthy choices.
- The most important thing a person can do is stick to their transfusion and chelation schedules.
- Other healthy choices include keeping vaccinations up-to-date, eating nutritious meals, exercising, and developing positive relationship.