Sickle cell anaemia

external

• Synonyms

  • Sickle cell disease

• Causes

  • HbB gene mutation
  • African origin

• Effects

  • Failure to thrive
  • Extravascular haemolysis
  • Frontal bossing
  • Crew haircut appearance
  • Intravascular thrombus formation
  • Hand-foot syndrome
  • Target cells
  • Urinary red cell casts
  • Renal papillary necrosis
  • Membranoproliferative glomerulonephritis
  • Proliferative retinopathy
  • Angioid streak
  • Primary testicular failure
  • Rubeosis iridis
  • Hyposplenism
  • Sickle cell crisis
  • Acquired hypercoagulable state
  • Sickle cell trait

• Parents

  • Haemoglobinopathy
  • Autosomal recessive disorder
  • Disease due to genetic mutation

• Treatments

  • Hydroxyurea
  • Erythropoietin
  • Guthrie test

• Description

  • "Chromosome 11p15.5. Homozygous HbS 10% have measngiocapillary GN Most have a medullary concentrating defect Median age of death 42 yrs"