South west haemoglobinopathy coordinating centre

Thalassaemia

What is Thalassaemia?

Thalassaemia is a genetic blood disorder that causes haemoglobin deficiency and severe anaemia, starving organs of oxygen, which inhibits their ability to function properly.

Once universally fatal, today Thalassaemia can be treated as a chronic disease. The major cause of illness and mortality has shifted from haemoglobin deficient anaemia to iron overload associated with chronic blood transfusion therapy. With medical advances, leading-edge technology, and scientific research, people with Thalassaemia are living longer.

Thalassaemia represents a group of genetic blood disorders with a wide variety of associated symptoms that commonly appear in the first two years of life.

Symptoms may include:

  • Skin with pale, jaundiced or anaemic appearance
  • Slow growth
  • Poor appetite
  • ‘Failure to thrive’
  • Fatigues easily
  • At risk for infections
normal red cell vs Thalassaemia

Thalassaemia is a serious medical condition. If left untreated, it can result in medical complications that may lead to death.

Complications may include:

  • Enlarged liver, spleen and heart
  • Thin and brittle bones
  • Life-threatening infections
  • Heart failure
  • Bone pains

High-risk populations include:

  • Italian
  • Greek
  • Southeast Asian (Vietnamese, Laotian, Thai, Singaporean, Filipino, Cambodian, Malaysian, Burmese, and Indonesian)
  • Chinese
  • Asian Indian
  • African
  • Middle Eastern
  • Transcaucasian (Georgian, Armenian, and Azerbaijani)

Please note that this page is for general information only. This is not clinical advice and should not be used for clinical decision making. Every effort is taken to keep this content up to date, but we cannot guarantee that all content is accurate and current at the time of reading. 

What are the different types of Thalassaemia?
  • Alpha Thalassaemia (Alpha Thalassaemia Carrier/Trait; Haemoglobin H disease; Alpha Thalassaemia Major)
  • Beta Thalassaemia (Beta Thalassaemia Carrier/Trait; Beta Thalassaemia Intermedia; Beta Thalassaemia Major)
  • Haemoglobin E disease
  • Hb O Arab
  • Hb Lepore

How is Thalassaemia treated in adults?

Treatments include:

Non-Transfusion Treatment:

The vast majority of individuals who have Thalassaemia do not require regular blood transfusions. Specialists can manage these patients’ disease through monitoring their blood results and offer supportive treatments if needed.

Transfusion Therapy:

The service can help determine if transfusion therapy is right for a patient and help manage special healthcare needs created by chronic transfusion.

Chelation Therapy:

The goal of chelation therapy is to maintain the total body iron load in a near-normal range. This requires accurate measurements and expert medical management of each patient’s iron load.

Iron measurement:

MRI technology is used as a tool to measure the amount of iron inside the liver and heart in people with Thalassaemia, and correlate these levels with that of Serum Ferritin (which can be measured with a simple blood test).

Iron management:

Consultants help patients to find a chelation therapy suited to their medical needs and personal preferences. We show patients how to administer Desferal, a drug that removes excess iron from the body. We also prescribe Exjade (Deferasirox) which is an oral iron chelation therapy.

Thalassaemia: Quick Facts

  • Thalassaemia trait (carrier) is not an illness and will never turn into one. Thalassaemia is not contagious.
  • A trait/carrier of Thalassaemia will always be a trait/carrier. The genetic trait is passed down from parents to children.
  • Over 2 million people in the United States carry the genetic trait for Thalassaemia.
  • There are two types of Thalassaemia trait: Alpha Thalassaemia trait and Beta Thalassaemia trait.
  • Being a carrier of Thalassaemia does not cause health problems that require medical treatment. Thalassaemia trait will not impair your work, diet or exercise.
  • Thalassaemia carriers have smaller red blood cells that may cause a mild Anaemia. The Anaemia is so mild that is does not require medical treatment.
  • Trait carriers do not need to take iron supplements unless a special blood test (serum iron or serum ferritin) confirms iron deficiency.
  • Carriers can donate blood, provided that they are not anaemic (do not have a lower haemoglobin than usual)
  • If you and your partner both have Thalassaemia trait, for each pregnancy there is a:
    • 25% chance that the child will have Thalassaemia disease
    • 25% chance that the child will have normal haemoglobin levels
    • 50% chance that the child will have Thalassaemia trait

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