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Thalassemia: Types, Causes, Symptoms, Diagnosis, Prevention,Treatments

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What is Thalassemia?

Thalassemia is a blood disorder that affects the ability of the blood to get oxygen to the body’s organs

The disorder results in excessive destruction of red blood cells, which leads to anemia.

Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.

Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.

Causes of Thalassemia

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.

If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.

If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

Thalassemia disrupts the normal production of hemoglobin and healthy red blood cells. This causes anemia. With anemia, your blood doesn’t have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.

Diagnosing of Thalassemia

If your doctor is trying to diagnose thalassemia, they’ll likely take a blood sample. They’ll send this sample to a lab to be tested for anemia and abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped. Abnormally shaped red blood cells are a sign of thalassemia. The lab technician may also perform a test known as hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing them to identify the abnormal type.

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Depending on the type and severity of the thalassemia, a physical examination might also help your doctor make a diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.

Symptoms of Thalassemia

Thalassemia signs and symptoms may include:

  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine

Several types of thalassemia exist, including alpha-thalassemia, thalassemia intermedia and Cooley anemia. The signs and symptoms you experience depend on the type and severity of your condition. Some babies show signs and symptoms of thalassemia at birth, while others may develop them during the first two years of life. Some people who have only one affected hemoglobin gene don’t experience any thalassemia symptoms.

Prevention & Treatments of Thalassemia

Since thalassemia is a genetic disorder, there’s no way to prevent it. However, there are ways you can manage the disease to help prevent complications. In addition to hepatitis vaccines and ongoing medical care, diet and exercise may also be helpful.

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A low-fat, plant-based diet is the best choice for most people, including those with thalassemia. However, you may need to limit iron-rich foods if you already have high iron levels in your blood. Fish and meats are rich in iron, so you may need to limit these in your diet. You may also consider avoiding fortified cereals, breads, and juices. They contain high iron levels, too. Be sure to discuss any dietary changes with your doctor ahead of time.

You may ask your doctor for tips on exercising if you’re not currently physically active. Moderate-intensity workouts are best since heavy exercise can make your symptoms worse. Walking and bike riding are examples of moderate-intensity workouts. Swimming and yoga are other options, and they’re also good for your joints. The key is to find something you enjoy and keep moving.

Treatment for thalassemia depends on which type you have and how severe it is.

Treatments for mild thalassemia

Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed. Occasionally, you may need a blood transfusion, particularly after surgery, after having a baby or to help manage thalassemia complications.

People with severe beta-thalassemia will need blood transfusions. And because this treatment can cause iron overload, they will also need treatment to remove excess iron. An oral medication called deferasirox (Exjade, Jadenu) can help remove the excess iron.

Treatments for moderate to severe thalassemia

Treatments for moderate to severe thalassemia may include:

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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. To help your body get rid of the extra iron, you may need to take medications that rid your body of extra iron.

Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant may be an option in select cases, including children born with severe thalassemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

During this procedure, you receive infusions of stem cells from a compatible donor, usually a sibling.

Thalassemia can also affect pregnancy

Thalassemia also brings up different concerns related to pregnancy. The disorder affects reproductive organ development. Because of this, women with thalassemia may encounter fertility difficulties.

To ensure the health of both you and your baby, it’s important to plan ahead of time as much as possible. If you want to have a baby, discuss this with your doctor to make sure that you’re in the best health possible. Your iron levels will need to be carefully monitored. Preexisting issues with major organs are also considered.

Pregnancy carries the following risk factors in women with thalassemia:

  • hypothyroidism, or low thyroid
  • gestational diabetes
  • heart problems
  • increased number of blood transfusions
  • low bone density
  • a higher risk for infections