Alpha Thalassemia

Also known as: Hemoglobin Bart Hydrops fetalis syndrome, Hb Bart syndrome, HbH disease.

What is alpha thalassemia?

Hemoglobin is the red oxygen carrying pigment found in the blood’s red cells. It is made up of “heme” which carries iron and “globin” which is the protein part, made up of 4 long chains of amino acids (the building blocks of protein) - two chains are called “alpha” and the other two (depending on their structure) may be “beta”, “delta”, “gamma”, or “epsilon” depending on the type of hemoglobin.

In older children and adults, hemoglobin is composed of 2 alpha chains and 2 beta chains. In Alpha thalassemia there is an abnormality in the production of alpha chains which causes the red cells to more easily breakdown.

What causes alpha thalassemia?

There are four types of Alpha thalassemia; a genetic disease inherited from one or both parents which causes abnormalities in the production of the alpha chains of hemoglobin.

What are the signs/symptoms of HbH disease?

Depending on which type of alpha thalassemia is inherited, signs/symptoms will vary from no symptoms to:

  • mild anemia
  • anemia
  • pale skin
  • fatigue
  • weakness
  • enlarged liver or spleen
  • jaundice (yellow eyes/skin)
  • failure to grow
  • abnormal skull shape
  • recurrent fevers

In alpha thalassemia major, many babies will die either before or soon after birth.

What are alpha thalassemia care options?

Treatment for alpha thalassemia will vary widely based on how severe it is. For mild cases, no treatment may be needed.

Others may need vitamin supplements (folic acid), blood transfusions (as needed), medicines to remove the extra iron that follows increased red cell breakdown, surgery to remove an enlarged spleen, or bone marrow transplantation.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: April 07, 2022 03:37 PM

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