Thalassemia

Thalassemia is an inherited blood disorder. It affects your body’s ability to produce normal hemoglobin. Hemoglobin is a protein in red blood cells. It allows your red blood cells to transport oxygen throughout your body, nourishing your body’s other cells.

Causes of Thalassemia #

• Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains.

• Each chain both alpha and beta contains genetic information, or genes, passed down from your parents.

• Think of these genes as the code or programming that controls each chain and (as a result) your hemoglobin.

• If any of these genes are defective or missing, you’ll have thalassemia.

Symptoms of Thalassemia #

Mild to moderate symptoms of Thalassemia #

Beta thalassemia intermedia may cause mild anemia symptoms, or it may cause the following symptoms associated with more moderate disease:

• Growth problems

• Delayed puberty.

• Bone abnormalities, such as osteoporosis.

• An enlarged spleen (the organ in your abdomen that plays a part in fighting infection).

Severe symptoms of Thalassemia #

Symptoms of severe anemia include those associated with mild to moderate disease. Additional symptoms may include:

• Poor appetite.

• Pale or yellowish skin (jaundice).

• Urine that’s dark or tea-colored.

• Irregular bone structure in your face.

Diagnosis of Thalassemia #

• A complete blood count (CBC) that includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemia have fewer healthy red blood cells and less hemoglobin than normal. They may also have smaller-than-normal red blood cells.

• A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow isn’t producing enough red blood cells.

• Studies of iron will indicate whether the cause of your anemia is an iron deficiency or thalassemia.

• Hemoglobin electrophoresis is used to diagnose beta thalassemia.

• Genetic testing is used to diagnose alpha thalassemia.

Treatment of Thalassemia #

• A blood transfusion involves receiving injections of red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin. You’ll receive transfusions every four months with moderate or severe thalassemia, and with beta thalassemia major, every two to four weeks. Occasional transfusions may be needed (for instance, during times of infection) for hemoglobin H disease or beta thalassemia intermedia.

• Iron chelation involves the removal of excess iron from your body. A danger with blood transfusions is that they can cause iron overload. Too much iron may damage organs. If you receive frequent transfusions, you’ll receive iron chelation therapy (which you can take as a pill).

• Folic acid supplements can help your body make healthy blood cells.

• Bone marrow and stem cell transplant from a compatible related donor is the only treatment to cure thalassemia. Compatibility means the donor has the same types of proteins, called human leukocyte antigens (HLA), on the surface of their cells as the person receiving the transplant. Your healthcare provider will inject bone marrow stem cells from your donor into your bloodstream during the procedure. The transplanted cells will start to make new, healthy blood cells within one month.

• Luspatercept is an injection that’s given every three weeks and can help your body make more red blood cells. It’s approved in the U.S. for the treatment of transfusion-dependent beta thalassemia.