Other Names: Beta thalassemia major; Cooley’s anemia; Beta thalassemia intermedia; Beta thalassemia minor; Erythroblastic anemia; Mediterranean anemia; Thalassemia, Hispanic gamma-delta-beta.
Beta-thalassemia is a blood disorder that reduces the body’s production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia is called “thalassemia major” or “Cooley’s anemia.” Thalassemia intermedia is a less severe form. Beta-thalassemia is caused by mutations in the HBB gene and is usually inherited in an autosomal recessivemanner. People who have only one HBB gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. Treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure).

Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not be a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have ‘beta-thalassemia minor’ or ‘beta-thalassemia trait.

Beta thalassemia is most often found in persons who are of Mediterranean ancestry (Greek or Italian). Each child of two carrier parents is at 25 percent risk for the disease. Carrier status can be determined by the following:

  • Complete blood count (CBC) – a measurement of size, number, and maturity of different blood cells in a specific volume of blood.
  • Hemoglobin electrophoresis with A2 quantitation – a lab procedure that differentiates the types of hemoglobin present

These studies can be performed from a single blood sample. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis. Treatment for beta thalassemia may include:

  • Regular blood transfusions
  • Medications (to decrease amount of iron in the body, called chelation therapy)
  • Surgical removal of the spleen (if necessary)
  • Daily doses of folic acid
  • Possible surgical removal of the gallbladder
  • No iron supplements
  • Bone marrow transplantation