Thalassemia
Treatments / Thalassemia
What is Thalassemia
Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder. Hemoglobin is crucial for red blood cells to transport oxygen throughout the body. This condition can lead to anemia, causing fatigue.
For mild thalassemia, treatment may not be necessary. However, more severe cases might require regular blood transfusions.
What are the symptoms of thalassemia?
Thalassemia manifests in various forms, each with its own set of signs and symptoms, which can vary in severity:
- Fatigue
- Weakness
- Skin that appears pale or yellowish
- Deformities in facial bones
- Slowed growth
- Swelling in the abdomen
- Dark urine
While some infants may display symptoms from birth or within the first two years of life, others may not exhibit any symptoms if they possess only one affected hemoglobin gene.
Causes
Thalassemia is caused by mutations in the DNA of cells that produce hemoglobin, the substance in red blood cells that carries oxygen. These mutations are inherited from parents. Hemoglobin is made of alpha and beta chains. In thalassemia, production of these chains is reduced, leading to alpha-thalassemia or beta-thalassemia.
In alpha-thalassemia, the severity depends on the number of mutated genes inherited:
- One mutated gene: No signs or symptoms. You are a carrier and can pass it to your children.
- Two mutated genes: Mild signs and symptoms, called alpha-thalassemia trait.
- Three mutated genes: Moderate to severe signs and symptoms.
- Four mutated genes: Rare and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. Rarely, it can be treated with transfusions and a stem cell transplant.
In beta-thalassemia, the severity depends on which part of the hemoglobin molecule is affected.
How is thalassemia treated?
Standard treatments for thalassemia major include blood transfusions and iron chelation.
- A blood transfusion involves receiving red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin. For moderate or severe thalassemia, transfusions are needed every four months. For beta thalassemia major, transfusions are required every two to four weeks. Occasional transfusions may be needed for hemoglobin H disease or beta thalassemia intermedia, especially during infections.
- Iron chelation removes excess iron from the body, a necessary treatment due to the risk of iron overload from frequent transfusions, which can damage organs. Iron chelation therapy is typically taken as a pill.
- Folic acid supplements aid the body in producing healthy blood cells.
- The only cure for thalassemia is a bone marrow or stem cell transplant from a compatible related donor. Compatibility requires matching human leukocyte antigens (HLA) on the donor’s cells with those of the recipient. During the procedure, bone marrow stem cells from the donor are injected into the recipient’s bloodstream. These transplanted cells begin producing new, healthy blood cells within a month.
- Luspatercept is an injection given every three weeks to help the body produce more red blood cells. It is approved in the U.S. for treating transfusion-dependent beta thalassemia.