Beta thalassemia major, also known as Cooley’s anemia, is a severe form of the inherited blood disorder thalassemia. It is caused by mutations in the HBB gene, which controls the production of the beta globin subunit of hemoglobin, the protein in red blood cells that carries oxygen to the body’s tissues. The condition leads to the abnormal formation of hemoglobin, resulting in the destruction of red blood cells and a shortage of oxygen in the body. Beta thalassemia major is a life-long and debilitating disorder that requires ongoing treatment and management.
Symptoms
The symptoms of beta thalassemia major can develop soon after birth and may include:
- Anemia: The destruction of red blood cells leads to a shortage of oxygen in the body, resulting in anemia, which can cause fatigue, weakness, and pallor.
- Enlarged spleen and liver: The spleen and liver may become enlarged as they try to remove the abnormal red blood cells from the body.
- Delayed growth and development: Children with beta-thalassemia major may experience delayed growth and development.
- Bone deformities: The severe anemia associated with beta thalassemia major can cause bones to become brittle and prone to fractures and deformities.
Complications
Beta thalassemia major can lead to a number of serious complications, including:
- Heart and lung problems: The shortage of oxygen in the body can cause heart and lung problems, such as heart failure and respiratory infections.
- Liver and spleen damage: The enlarged spleen and liver can become damaged over time, leading to complications such as cirrhosis and portal hypertension.
- Iron overload: Blood transfusions, a common treatment for beta thalassemia major, can cause a buildup of iron in the body, which can damage the liver, heart, and other organs.
Treatment and Management
Treatment for beta thalassemia major involves regular blood transfusions to replace the missing hemoglobin and chelation therapy to remove the excess iron from the body.
- Blood transfusions: Individuals with beta thalassemia major may require regular blood transfusions to replace the missing hemoglobin. The frequency of blood transfusions can vary depending on the person’s needs, but they may need to be given as often as every two to four weeks.
- Iron chelation therapy: Blood transfusions can cause a buildup of iron in the body, which can damage the liver, heart, and other organs. Iron chelation therapy is used to remove excess iron from the body.
- Bone marrow transplant: A bone marrow transplant can cure beta-thalassemia major by replacing the damaged bone marrow with healthy cells, but it is often a difficult and high-risk procedure. Read – Bone marrow transplant
- Gene therapy: Gene therapy is a relatively new approach for treating beta-thalassemia major, which is under development and research. It aims to correct the genetic mutation that causes beta thalassemia, by introducing a healthy copy of the gene into the person’s cells.
Conclusion
Beta thalassemia major is a severe and debilitating form of the inherited blood disorder thalassemia. It is caused by mutations in the HBB gene, which controls the production of the beta globin subunit of hemoglobin. The condition leads to the abnormal formation of hemoglobin and the destruction of red blood cells, resulting in a shortage of oxygen in the body. Treatment for beta thalassemia major involves regular blood transfusions and iron chelation therapy. Bone marrow transplant is the best treatment option for this.
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