2021, Cilt 19, Sayı 1, Sayfa(lar) 089-098 |
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Molecular and Cellular Pathophysiology of Sickle Cell Anemia |
Gizem İnal1, Abdullah Arpacı2 |
1Hatay Mustafa Kemal Üniversitesi, Moleküler Biyokimya ve Genetik Anabilim Dalı, Hatay, Türkiye 2Hatay Mustafa Kemal Üniveristesi, Tıbbi Biyokimya Anabilim Dalı, Hatay, Türkiye |
Keywords: Hemoglobin S; Polymerization; Erythrocyte Membrane; Ion Channels; Hemolysis |
Sickle cell disease is a blood disorder that affects erythrocytes one of the most common single gene
disorders in the world and the incidence is high in Turkey. Mutation in the beta globin gene leads to the
formation of sickle hemoglobin tetramers. These tetramers polymerize and damage the erythrocyte
membrane. Erythrocyte damage; It creates a vicious circle by triggering pathophysiological mechanisms
such as hemolysis, vaso-occlusion, endothelial dysfunction and inflammation. These mechanisms cause
varying degrees on each patient chronic hemolytic anemia, vasculopathy, acute and / or chronic organ
damage and shortened lifespan. This review provides a comprehensive overview of the molecular and
cellular pathophysiology of sickle cell anemia.
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