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Sickle Cell Disease
Toxic gain function

Sickle Cell Disease

  • Genotype

    Hbba

  • Mechanism

    Toxic gain function

  • Phenotype

    Locomotor activity, Fatigue, Endurance, Pain, Anxiety, Social interaction, Cognitive impairment

  • Biomarker

    Hemoglobin, Haptoglobin,Erythropoietin, Reticulocytes, CRP, IL 6

  • Gene Expression Markers

    HIF1A, VEGFA, EPO,  SOD1, GPX1, HMOX1, TNF, IL6, VCAM1, ICAM1 

  • Physiology Changes

    Hypoxia, Hemolysis,  Vaso occlusion

  • Histology Grading Endpoint

    Presence of sickled (crescent-shaped) RBCs, Increased anisocytosis and poikilocytosis, Increased RBC breakdown
    Presence of fragmented cells, Capillary and microvascular blockage by sickled RBC, Leukocyte infiltration, Endothelial cell activation

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