Sickle Cell Disease

Hematology · ~5% of blueprint

Pathophysiology: Autosomal recessive HbS (β-globin mutation) → RBC sickling under stress → vaso-occlusion & hemolysis.
Signs & Symptoms: Painful vaso-occlusive crises, dactylitis, acute chest syndrome, splenic sequestration, infection risk.
Gold Standard Diagnosis: Hemoglobin electrophoresis (HbS); newborn screening; sickle cells on peripheral smear.
First-line Treatment: Hydration, analgesia, and O₂ for crises; hydroxyurea to reduce crises; vaccinate (functional asplenia).

High-Yield Pearl

Hydroxyurea raises fetal hemoglobin (HbF) and reduces the frequency of crises.

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