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Thalassemia – Symptoms and causes

Publisher/Author : Pacific Cross

This post is also available in: Tiếng Việt (Vietnamese)

Thalassemia is a blood disorder that the body makes an abnormal form of hemoglobin, the protein molecule in red blood cells that carries oxygen. The disorder is the result of excessive destruction of red blood cells, which leads to anemia, a condition in which your body doesn’t have enough normal, healthy red blood cells.

Thalassemia is inherited disease, meaning that at least one of your parents must be a carrier of the disease, due to either a genetic mutation or a deletion of certain key gene fragments.

The two main forms of thalassemia are alpha-thalassemia and beta-thalassemia. 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.

How common is thalassemia?

According to the Centers for Disease Control (CDC), thalassemia is most common in people from Asia, the Middle East, Africa, and Mediterranean countries such as Greece and Turkey.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.


What are the symptoms of thalassemia?

Depending on the type of thalassemia, the signs and symptoms may vary.

  • Thalassemia minor

Thalassemia minor usually doesn’t cause any symptoms. If it does, it causes minor anemia.

  • Beta-thalassemia

Beta-thalassemia comes in two serious types, which are thalassemia major, and thalassemia intermedia (less severe form of beta-thalassemia).

The severe anemia related to this condition can be life-threatening. Other signs and symptoms may include:

  • Fussiness
  • Paleness
  • Frequent infections
  • A poor appetite
  • Failure to thrive
  • Jaundice, which is a yellowing of the skin or the whites of the eyes
  • Enlarged organs

This form of thalassemia is usually so severe that it requires regular blood transfusions.

  • Alpha-thalassemia

Alpha-thalassemia also has two serious types, which are hemoglobin H disease and hydrops fetalis.

Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, hemoglobin H disease can cause:

  • Jaundice, which is a yellowing of the skin or the whites of the eyes
  • An extremely enlarged spleen
  • Malnourishment

Hydrops fetalis is considered as an extremely severe form of thalassemia. It occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born.

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes thalassemia?

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

Risk factors

What increases my risk for thalassemia?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Family history of thalassemia

Thalassemia is passed from parents to children through mutated hemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.

  • Certain ancestry

Thalassemia occurs most often in African-Americans and in people of Mediterranean and Southeast Asian ancestry.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is thalassemia diagnosed?

If your doctor suspects that you experience thalassemia, he/she will perform a physical exam to determine this condition.

After the examination, they will likely take a blood sample. They will send this sample to a lab to be tested for anemia and abnormal hemoglobin. 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.

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.

How is thalassemia treated?

Depending on the type and severity of disease involved, the treatment for thalassemia will be determined. Your doctor will give you a course of treatment that will work best for your particular case.

Some of the utilized treatments include:

  • Blood transfusions
  • A bone marrow transplant (BMT)
  • Medications and supplements
  • Possible surgery to remove the spleen or gallbladder

Your doctor may instruct you not to take vitamins or supplements containing iron. This is especially true if you require blood transfusions. People who receive blood transfusions receive extra iron that the body can’t easily get rid of. Iron can accumulate in tissues, which can be potentially fatal.

You may also need chelation therapy if you’re receiving a blood transfusion. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage thalassemia?

  • Avoid excess iron

Unless your doctor recommends it, don’t take vitamins or other supplements that contain iron.

  • Eat a healthy diet

Eating a balanced diet that contains plenty of nutritious foods can help you feel better and boost your energy. Your doctor also may recommend you take a folic acid supplement to help your body make new red blood cells. Also, to keep your bones healthy, make sure your diet contains adequate calcium and vitamin D. Ask your doctor what the right amounts are for you and whether you need to take a supplement.

  • Avoid infections

Protect yourself from infections with frequent hand-washing and by avoiding sick people. This is especially important if you’ve had to have your spleen removed. You’ll also need an annual flu shot, as well as the meningitis, pneumococcal and hepatitis B vaccines to prevent infections. If you develop a fever or other signs and symptoms of an infection, see your doctor for treatment.

If you have any questions, please consult with your doctor to better understand the best solution for you. Hello Health Group does not provide medical advice, diagnosis or treatment.

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