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Sickle Cell Anaemia

 
 
 
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Overview

Sickle cell anaemia is an inherited disorder affecting haemoglobin synthesis, resulting in 'sickling' of red blood cells and resultant complications.
Sickle cell disease is a more broad term that includes sickle cell anaemia, sickle beta thalassaemia and haemoglobin SC disease.

Pathogenesis

Sickle cell disease is inherited in an autosomal recessive fashion, and occurs due to a mutation in beta globin chain gene (genotype βSβS), resulting in haemoglobin S synthesis.
Haemoglobin S tends to polymerise in low oxygen settings, resulting in sickling of red blood cells; these deformed cells have a shortened lifespan and cause occlusions within blood vessels as well as endothelial dysfunction.

Manifestations

  • Complications of Sickle Cell Anaemia

  • Haemolytic anaemia
  • Hypersplenism (early) - anaemia, thrombocytopaenia
  • Hyposplenism (late) - increased risk of infection, thrombocytosis
  • Vaso-occlusive disease - acute pain crises, stroke, acute chest syndrome, avascular necrosis, pulmonary hypertension, renal infarction, other micro-infarcts
  • Aplastic crisis (acute anaemia)

Diagnosis

  • Test Findings in Sickle Cell Anaemia

  • Full Blood Count & Film

  • Normocytic normochromic anaemia
  • Anisocytosis: variation in red cell size
  • Poikilocytosis - sickle cells, elliptocytes
  • Basophilic stippling
  • Immature red cells - polychromasia / nucleated red blood cells
  • Evidence of hyposplenism - target cells, Howell Jolly bodies, Pappenheimer bodies
  • Other Tests

  • Sickle solubility testing - 
  • High performance liquid chromatography / haemoglobin electrophoresis - presence of haemoglobin S with a lack of haemoglobin A
  • Diagnosis
     
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