Article
Sickle Cell Disease in Brazil: Current Management.
Hemoglobin - 1 Jul 2024
da Silva Araújo Aderson, Silva Pinto Ana Cristina, de Castro Lobo Clarisse Lopes, Figueiredo Maria Stella, Menosi Gualandro Sandra Fátima, Olalla Saad Sara Teresinha, Cançado Rodolfo Delfini
Abstract excerpt
Sickle cell disease (SCD) comprises inherited red blood cell disorders due to a mutation in the β-globin gene (c20A > T, pGlu6Val) and is characterized by the presence of abnormal hemoglobin, hemoglobin S, hemolysis, and vaso-occlusion. This mutation, either in a homozygous configuration or in compound states with other β-globin mutations, leads to polymerization of hemoglobin S in deoxygenated conditions,...
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