Divergence and convergence: animal models for congenital human erythroid disorders (original) (raw)

Abstract

Human congenital erythroid disorders are caused by various abnormalities such as hemoglobin polymorphisms, increase in membrane permeability to ions, cytoskeletal dissociation and malfunction of enzymes involved in energy metabolism and redox state. Beta-globin gene variants giving rise to various hemoglobinopathies (sickle cell disease, beta-thalassemia) are naturally restricted to the regions currently or historically populated by Plasmodium parasite. Protection against malaria in people with sickle cell trait results from the ability of deoxygenated hemoglobin S (Hb) to polymerize as substitution of charged Glu to uncharged Val in position 6 highly reduces its hydrophilicity. Irreversible HbS polymerization is triggered by deoxygenation, and markedly facilitated by dehydration that increases mean corpuscular hemoglobin concentration. This strategy to resist infection (protozoa and viruses) is not restricted to humans. Several fish, reptile and mammalian species are capable of rev...

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