HEMATOLOGY
Etiology:
β-globin mutation (Glu→Val) → H • Autosomal recessive
Pathogenesis:
Deoxygenated HbS polymerizes → sickling → vaso-occlusion + hemolysis
Clinical Features:
Pain crises (vaso-occlusive)
Dactylitis (hand-foot swelling in infants)
Autosplenectomy → ↑ risk of infection (encapsulated bacteria)
Acute chest syndrome, priapism, stroke, leg ulcers
Fatigue, jaundice, gallstones
Lab Findings:
Normocytic anemia, ↑ reticulocytes
Sickled and target cells on smear
↑ Indirect bilirubin, ↑ LDH
Hb electrophoresis: ↑ HbS, ↓ HbA
Treatment:
Hydroxyurea (↑ HbF)
Vaccination, antibiotics, transfusions