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24 Ιαν 2019 · Based on current evidence, the pathobiology of SCD is considered to be a vicious cycle of four major processes, all the subject of active study and novel therapeutic targeting: (a) hemoglobin S...
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7 Μαΐ 2019 · Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic...
Molecular pathophysiology of sickle cell disease. (a) A single-nucleotide polymorphism in the β-globin gene leads to substitution of valine for glutamic acid at the sixth position in the β-globin chain. Following deoxygenation, the mutated hemoglobin (HbS) molecules polymerize to form bundles.
Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.
25 Ιουν 2024 · This topic discusses the pathophysiology of SCD, including the mechanisms of Hb S polymerization, vaso-occlusion, and hemolysis. Separate topics discuss the clinical consequences of these changes in different organ systems: General overview – (See "Overview of the clinical manifestations of sickle cell disease".)
Sickle Cell Anemia: From Basic Science to Clinical Practice aims to provide an update on our current understanding of the disease’s pathophysiology and use this information as a basis to discuss its manifestations in childhood and adulthood.
• Evidence-based treatment guidelines for sickle cell disease complications that affect the heart, lungs, and kidneys. • SCD affects multiple organs that require patients to seek care from doctors that
