Alpha Thalassemia

Alpha Thalassemia Facts*

*Alpha thalassemia facts medical author:

  • Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body.
  • There are four types of alpha thalassemia, hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome (the more severe form), HbH disease, silent carrier state and trait.
  • Alpha thalassemia occurs frequently in people from Mediterranean countries, North Africa, the Middle East, India, and Central Asia.
  • Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes.
  • People who have alpha thalassemia trait can have mild anemia. However, many people with this type of thalassemia have no signs or symptoms.
  • Treatments for thalassemias depend on the type and severity of the disorder.

What is alpha thalassemia?

Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.

What are the symptoms of alpha thalassemia?

In people with the characteristic features of alpha thalassemia, a reduction in the amount of normal hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications.

Medically Reviewed by a Doctor on 4/1/2014

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Alpha Thalassemia Testing

Is there a test for thalassemia?

Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier. If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus tested for thalassemia.

Prenatal testing can be done around the 11th week of pregnancy using chorionic villi sampling (CVS). This involves removing a tiny piece of the placenta. Or, the fetus can be tested with amniocentesis around the 16th week of pregnancy. In this procedure, a needle is used to take a sample of the fluid surrounding the baby for testing.

Assisted reproductive therapy is also an option for carriers who don't want to risk giving birth to a child with thalassemia. A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro fertilization, may enable parents who have thalassemia or carry the trait to give birth to healthy babies. Embryos created in-vitro are tested for the thalassemia gene before being implanted into the mother, allowing only healthy embryos to be selected.

SOURCE: National Heart Lung and Blood Institute


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