Sickle cell disease SCD

• Facts:
  Autosomal recessive, MC in AA
  Mutation in adult hemoglobin, decreased RBC survival
  Qualitative defect in beta chain (glu replaced by val)
  Usually develop functional asplenia by 2-3 yo
  
  
• History / PE:
  Anemia/jaundice
  Hemolytic crisis
  Dactylitis
  Increased cardiac output (murmur and cardiomegaly)
  Delayed growth
  Splenic infarction
  Hyposthenuria
  Functional asplenia ( Howell-Jolly bodies )
  
• Diagnosis:
  Sickled cells (blood smear)
  Reticulocytosis
  
• Treatment:
  Hydroxyurea
  Splenectomy
  
• Associated With:
  Priaprism (in children)
  Folic acid deficiency
  Aplastic crisis (parvovirus B19 virus, no reticulocytes)
  Salmonella osteomyelitis (S. aureus #2)
  Avascular necrosis of hip
  Cholelithiasis
  Vaso-occlusive crisis