Prolific Drug Discovery Human ?-Hemoglobiopathies ? Thalassemia - Sickle Cell Anemia - Anemic Condition

The Thalassemia are the commonest monogenic disorders in the world, and globally it is estimated that there are 270 million carriers, of which 80 million are carriers of -Thalassemia. -Thalassemia is widespread in the Mediterranean, Southeast Asian, African, and Middle East populations. The mean prevalence of this disease in India is 3.3 %. It has become much more common recently in northern and central Europe, including Germany, due to immigration. The Thalassemia refer to a diverse group of hemoglobin disorders characterized by a reduced synthesis of one or more of the globin chains (, , , , , , and). -thalassemia occurs when there is a deficiency of -globin, which is typically caused by a direct down-regulation in the synthesis of structurally normal b chains. However, a thalassemia phenotype can also arise from structural b chain variants if they are synthesized at a reduced rate. The most severe form of Thalassemia is characterized by the complete absence of HbA (22) which results from the inheritance of two homozygous -thalassemia alleles. This normally presents as a life-threatening anemia requiring blood transfusions from infancy. Inheritance of single -thalassemia alleles is presented by a clinically asymptomatic condition, but may show a mild anemia.