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Alpha Thalassemia

AL-fuh • thal-uh-SEE-mee-uh

General Condition Information

Other Names

  • Alpha thalassemia (Barts)
  • Alpha thalassemia disorders
  • Alpha thalassemia major
  • Alpha-thalassemia (Bart's Hb)
  • Hemoglobin H disease
  • Hemoglobin-H disease

Condition Type

Birth Prevalence

  • It is unknown how many babies are born with this rare condition each year in the United States.
  • Visit GeneReviews to learn more about how often alpha thalassemias occur.

Screening Finding

Presence of Bart’s hemoglobin

What is Alpha Thalassemia

Alpha thalassemia is an inherited (genetic) condition that affects the hemoglobin in blood. Hemoglobin is a part of your red blood cells, which carry oxygen to your body.

The different types of alpha thalassemia are:

  • Alpha thalassemia silent carrier
  • Alpha thalassemia minor (alpha thalassemia trait)
  • Hemoglobin H (HbH) disease
  • Alpha thalassemia major (Hb Bart’s syndrome)

These types can be more or less severe depending on the amount of normal red blood cells and hemoglobin in your baby’s blood. The more normal red blood cells and hemoglobin that your baby has, the less severe their condition may be.

Babies with the two more severe types of alpha thalassemia (HbH disease and alpha thalassemia major) make less normal hemoglobin, which means they have fewer normal red blood cells. Babies with fewer healthy red blood cells have a harder time sending enough oxygen to the body. This causes the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your healthcare provider about which treatment(s) are best for your baby. The goal of treatment is to prevent and minimize the health problems caused by this condition.

Treatments may include the following:

  • Surgery to remove the spleen, in some cases
  • Blood transfusion in cases of severe anemia
  • Medicines to reduce extra iron from your body
  • Avoidance of certain oxidant drugs (like antimalarial drugs and aspirin)
  • Sometimes a family knows during pregnancy that the baby has alpha thalassemia major due to prenatal testing or ultrasound findings. In this case, blood transfusions for the baby before birth (intrauterine transfusions) may increase the chance for survival.

Children who receive early health care and treatment for alpha thalassemia can have healthier lives than those who do not receive treatment.

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