Alpha Thalassemia: Symptoms & Signs

Alpha thalassemia is an inherited blood disorder that affects the way hemoglobin (the molecule that carries iron and oxygen in the blood) is produced. It leads to a decrease in overall hemoglobin levels, with the characteristic signs and symptoms of anemia.

Signs and symptoms of alpha thalassemia are those of other types of anemia and include

A more severe form of alpha thalassemia occurs in a condition known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. Hydrops fetalis, a condition in which excess fluid builds up in the body before birth, characterizes Hb Bart syndrome. Additional signs and symptoms of Hb Bart syndrome can include

  • an enlarged liver and spleen (hepatosplenomegaly),
  • heart defects, and
  • abnormalities of the urinary system or genitalia.

Most babies born with this condition are stillborn or die soon after birth.

Cause of alpha thalassemia

The cause of alpha thalassemia is deletions involving the HBA1 and HBA2 genes.

Other alpha thalassemia symptoms and signs

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Medically Reviewed on 3/31/2020
References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.
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