Genetic Disorder - Thalassemia

Thalassemia is a hereditary disease. It is an autosomal recessive blood disease. Autosomal recessive pattern means both copies of the gene in each cell have mutations. Thalassemia is also known as Mediterranean anemia, Jaksch anemia or Cooley\'s anemia. This is not a single disorder but a group of defects with similar clinical effects. A group of inherited anemia, in which there is a defect in alpha or beta chains of hemoglobin. The anemia affected to the alpha chains is known as alpha thalassemia and the anemia affected to the beta chains are called beta chains. Thalassemia major is to describe homozygote and Thalassemia minor to heterozygote. The defect results in reduced rate of synthesis of one of the globin chain that makeup hemoglobin. This causes the formation of abnormal hemoglobin molecules which causes anemia, a characteristic symptom of thalassemias. Thalassemia includes different types of anemia. The severity depends up on the number of genes it affected. In this disorder the patient is unable to produce red blood cells and the reduction has to be supplemented with the transfusion of red blood cells, every 2-3 weeks to make patient healthy and to survive. Read more >>