Thalassemia is a genetic blood disorder that primarily affects the body’s ability to produce hemoglobin, the protein in red blood cells that transports oxygen. There are two main types: alpha thalassemia and beta thalassemia, which are named after the specific part of the affected hemoglobin molecule. In individuals with thalassemia, hemoglobin production is either insufficient or abnormal, resulting in fewer red blood cells and a decreased capacity to carry oxygen efficiently. This leads to chronic anemia, which causes fatigue, weakness, pale skin, and shortness of breath.

Thalassemia is inherited in an autosomal recessive manner, meaning both parents must pass on the defective gene for a child to develop the condition. The severity of the disorder can range from mild (thalassemia minor) to severe (thalassemia major or Cooley’s anemia), depending on the number and type of defective genes inherited. In severe cases, individuals may require regular blood transfusions to manage symptoms and maintain adequate hemoglobin levels. However, frequent transfusions can lead to complications such as iron overload, which may damage vital organs, including the liver and heart.

Other treatments may include chelation therapy to remove excess iron, bone marrow or stem cell transplants, and medications to stimulate red blood cell production. Prenatal testing is available for at-risk couples to determine the likelihood of their child inheriting the condition.

While thalassemia is most common in regions such as the Mediterranean, Middle East, South Asia, and Africa, it can affect people worldwide. Medical care advances have significantly improved life expectancy and quality of life for those living with thalassemia.