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Thalassemia – causes, side effects and treatments at

Thursday, July 05, 2018 by

Thalassemia is a genetic (inherited) blood disorder. A patient with the disorder produces an abnormal form of hemoglobin, the protein molecule in red blood cells that carries oxygen.

Thalassemia destroys red blood cells, which causes anemia, a condition where the body lacks a healthy level of normal and healthy red blood cells. The disorder is caused by either a genetic mutation or the deletion of crucial gene fragments.

There are three types of thalassemia:

Alpha thalassemia – The first main type of the disorder, alpha thalassemia occurs when the body is unable to produce alpha globin. There are two types of alpha thalassemia:

  • Hemoglobin H disease – This type develops when a person doesn’t have three alpha globin genes or they experience changes in these genes. This disease may cause bone issues.
  • Hydrops fetalis – This is a very rare form of thalassemia. Patients with this condition are either stillborn, meaning they die after being born. This condition develops when all four alpha globin genes are changed or missing.

Beta thalassemia – The second main type of the disorder, beta thalassemia occurs when the body is unable to create beta globin. There are two serious subtypes for this form of the disorder:

  • Thalassemia major (Cooley’s anemia) – The most severe form of beta thalassemia, this occurs when beta globin genes are missing. A severe anemia related to this condition may be life-threatening. This form of thalassemia is often severe enough that a patient may need regular blood transfusions.
  • Thalassemia intermedia – The less severe form of beta thalassemia, it occurs due to alterations in both beta globin genes. Patients with thalassemia intermedia don’t require need blood transfusions.

Thalassemia minor – The third form of the disorder which is less severe. Most of the time, patients with thalassemia minor don’t experience any symptoms. However, symptoms may include minor anemia.

Known symptoms of thalassemia

The major symptoms of thalassemia usually include:

  • Anemia – Children with beta thalassemia major seem normal at birth, but they develop severe anemia in their first year of life.
  • Stillbirth – This usually occurs when a patient has hydrops fetalis.

Other symptoms of the disorder may include:

  • Bone deformities in the face
  • Fatigue
  • Growth failure
  • Jaundice (yellow skin)
  • Shortness of breath

Patients with hemoglobin H or thalassemia intermedia have small red blood cells with no symptoms.

Risk factors for thalassemia may include:

  • Genetics – Having a family history of the disorder.
  • Race – Being of Asian, Chinese, Mediterranean, or African American ethnicity.

Body systems harmed by thalassemia

Thalassemia may cause the following complications:

  • Heart failure, liver problems, and infections – May occur if thalassemia major is left untreated.
  • Iron overload– May occur as a side effect of types of thalassemia that requires blood transfusions.

Food items or nutrients that may thalassemia

The following foods or nutrients can help prevent thalassemia or address its symptoms:

Treatments, management plans for thalassemia

Treatment for thalassemia may depend on the type and severity of disease that a patient has. Consult a healthcare professional to determine the best kind of treatment for your condition.

Treatments for thalassemia can include:

  • Blood transfusions
  • Bone marrow transplant
  • Medications and supplements
  • Surgery to remove the spleen or gallbladder

Some patients may be advised to stop taking vitamins or supplements that contain iron, especially if they require blood transfusions. This can help prevent iron overload since individuals who receive blood transfusions also receive extra iron that may build up in the body. Iron can build up in tissues and this can be potentially fatal.

Patients who receive blood transfusions may also require chelation therapy. This involves receiving an injection of a chemical that binds with iron and other heavy metals to remove excess iron from your body.

Where to learn more


Thalassemia is a genetic (inherited) blood disorder. A patient with the disorder produces an abnormal form of hemoglobin.

The major symptoms of thalassemia usually include anemia or stillbirth.

Thalassemia may cause complications like heart failure, liver problems, and infections or iron overload.

Treatments for thalassemia can include blood transfusions, bone marrow transplant, medications and supplements, or surgery to remove the spleen or gallbladder.

Sources include:


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