Thalassemia, commonly referred to as Mediterranean anemia, is a significant genetic disorder first identified in 1925 by pediatrician Thomas Benton Cooley. The term "thalassemia" was introduced by Nobel Laureate George Whipple and Professor Wm Bradford from the University of Rochester. It derives from the Greek word "thalassa" meaning sea, as in the Mediterranean Sea, combined with "-emia," meaning in the blood. Thalassemia encompasses a variety of inherited conditions that result in the reduced production of hemoglobin, the essential molecule responsible for oxygen transport in the blood. Adult hemoglobin normally consists of two alpha and two beta polypeptide chains. In beta thalassemia, mutations in both beta globin chains cause their underproduction or absence, leading to diminished hemoglobin levels and severe anemia. This genetic condition is particularly prevalent among individuals of Mediterranean descent, such as those from Italy and Greece. Children with beta thalassemia inherit one gene from each parent, who are carriers with only one thalassemia gene and have a mild form known as thalassemia minor, which typically presents no symptoms. At birth, affected children appear normal as fetal hemoglobin, which lacks beta chains, is predominant. However, the anemia becomes evident in the first few months of life, progressively worsening and causing symptoms such as paleness, fatigue, stunted growth, recurrent infections with fever, and diarrhea. While blood transfusions offer temporary relief, they do not cure the disease. It is hoped that gene therapy will eventually provide a solution for this condition.
