- 🔬Pathophysiology
- HbS beta-globin mutation (Glu->Val, codon 6) from both parents -> 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, HPLC or IEF confirms HbS; universal newborn screening; smear not confirmatory.
- 💊First-line Treatment
- Prompt analgesia (parenteral opioids if severe); O2 only if SpO2 <95%; fluids at maintenance rate; hydroxyurea; vaccinate.