Thalassemia

Thalassemia is a group of inherited blood disorders in which the body produces abnormal or insufficient hemoglobin, the essential protein in red blood cells that carries oxygen throughout the body. This defective hemoglobin results in the destruction of red blood cells, leading to varying degrees of anemia, ranging from mild to severe. There are two main types: alpha-thalassemia and beta-thalassemia, named for the specific globin chains affected by genetic mutations. The disease may manifest with symptoms such as fatigue, pallor, jaundice, bone abnormalities, enlarged spleen, and slow growth.

Some individuals carry the thalassemia trait and experience no symptoms, while others, particularly those with thalassemia major, require regular blood transfusions and medical management. Risk factors include family history and ancestry from regions like South Asia, Mediterranean countries, and Africa. Complications can include iron overload, heart problems, and developmental delays. Early diagnosis and proper care are crucial to improving quality of life and preventing serious complications.