Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, which leads to anemia. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. People with thalassemia have either reduced production of hemoglobin or abnormal hemoglobin molecules, which results in fewer healthy red blood cells and reduced oxygen-carrying capacity.
There are two main types of thalassemia:
- Alpha thalassemia: This occurs when there is a problem with the genes that control the production of alpha globin chains, a component of hemoglobin. The severity of alpha thalassemia can vary depending on how many of the alpha globin genes are affected.
- Beta thalassemia: This occurs when there is a mutation in the genes that control the production of beta globin chains, another component of hemoglobin. Beta thalassemia can range from mild to severe, depending on the extent of the gene mutation.
Symptoms of thalassemia can vary widely depending on the type and severity of the disorder. Common symptoms include fatigue, weakness, pale skin, jaundice (yellowing of the skin and eyes), and delayed growth and development in children.
Treatment for thalassemia depends on the type and severity of the disorder. Mild cases may not require treatment, while more severe cases may require regular blood transfusions to replenish healthy red blood cells. Other treatments may include medications to reduce iron overload from frequent transfusions, bone marrow transplantation, or gene therapy in some cases.
It’s important for individuals with thalassemia to work closely with healthcare professionals to manage the condition and prevent complications.