Beta Thalassemia is an autosomal recessive blood disorder and is characterized by the absence or decreased production of the beta component of hemoglobin, the primary carrier of oxygen in the blood. This compromises the ability of hemoglobin to carry oxygen through the body and causes anemia, a primary symptom of Beta Thalassemia. Beta Thalassemia predominantly affects people of Mediterranean, Near and Middle Eastern, and Southeast Asian descent.

Beta Thalassemia is classified into three types. People who are carriers of Beta Thalassemia, identified as Thalassemia Minor or Trait, are generally healthy and may occasionally experience mild cases of anemia. Approximately 2 million people in the United States are carriers. Thalassemia Intermediate is characterized by moderate anemia, hepatosplenomegaly (enlargement of the liver and spleen), growth failure and jaundice. Age of onset is generally around 2-4 years of age. People affected by Thalassemia Intermediate may require blood transfusions. Thalassemia Major, also commonly known as Cooley’s Anemia, is a much more severe form of anemia. Symptoms are apparent within the first year of an infant’s life. An estimated 300,000 people worldwide are affected with Thalassemia Major.

Treatment for Beta Thalassemia generally include red blood cell transfusions every two to three weeks to maintain sufficient levels of hemoglobin. A side effect of this treatment is an overload of iron. To compensate for this, physicians prescribe chelation therapy in conjunction with the transfusions. Chelation therapy involves the infusion of a medication that binds the excess iron and removes it. It is a difficult and painful procedure and compliance with the treatment is a common problem amongst patients with Beta Thalassemia.

Testing for the disease is strongly recommended to patients who have a family history of anemia, specifically if they belong to one of the ethnic groups listed above. A Complete Blood Count (CBC), particularly the Mean Corpuscular Volume (MCV), may indicate whether an individual is anemic and further tests, i.e. hemoglobin electrophoresis, can further determine whether an individual is affected.

A new test now available for couples at risk is Pre-Implantation Genetic Diagnosis (PGD). This tests an embryo, conceived through IVF, for genetic defects, such as the Beta Thalassemia gene. This ensures that only healthy embryos are implanted, thus preventing the disease from being passed on.

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