The name is derived from the greek words thalasso sea and hemia blood in reference to anemia of the sea. The clinical phenotype results from both the diminished amount of the particular globin chain as well as from the resultant chain imbalance that occurs because of normal production of the other globin chain. What is thalassemia free download as powerpoint presentation. Thalassemia is an inherited blood disorder that causes mild or severe anemia uhneemeuh. Thalassemia results when mutations affecting the genes involved in hb biosynthesis lead to decreased hb production. Thalassemia is an inherited autosomal recessive blood disease. Pathophysiology and clinical manifestations of the.
Discover everything scribd has to offer, including books and audiobooks from major publishers. However, a recently controlled trial performed in sri lanka suggested that individuals with thalassemia trait may experience symptoms of anemia including. Thalassemias are a heterogeneous group of disorders of hemoglobin hb synthesis, which have in common a reduced rate of synthesis of one or more of the globin chains of normal human hb 25. In thalassemia the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin. Pathophysiology alpha thalassemia thalassemias result in. Thalassemia is a common inherited disease in the world. Brief explanation of the pathophysiology of beta thalassemia designed for medical students.
Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body. Thalassemia,itp,pnh free download as powerpoint presentation. India accounts for 10% of the total world thalassemia population and approximately 1 in 30 in the general population is carrier of the. What is thalassemia anemia diseases and disorders scribd. Therefore, new therapies that suppress heme catabolism may be beneficial in. This can cause the formation of abnormal hemoglobin molecules, thus causing anemia. Thalassaemia is a group of inherited disorders of hemoglobin synthesis characterized by a reduced or absent one or more of the globin chains of adult hemoglobin. Hemoglobinopathies sickle cell disease hemoglobin scribd. Thalassemia free download as powerpoint presentation. Pa tho physiology of beta thalassemia free download as word doc. Thalassemia is an inherited blood disorder that causes mild or. Description of the pathophysiology of alpha thalassemia.
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