Previous Year Questions on Hereditary Spherocytosis

Revision Synopsis and Previous Year Questions on  Hereditary Spherocytosis with Previous Year Questions based on Question asked in AIIMS, DNB, NEET, FMGE and Other PG Entrance Exams

Review of HEREDITARY SPHEROCYTOSIS

  • Autosomal dominant; some severe forms are autosomal recessive
  • Intrinsic defect in the red cell membrane that render the red cells spherical, less deformable, vulnerable to splenic sequestration and destruction (extravascular hemolysis)
  • Caused by mutations affecting the proteins of RBC membrane skeleton
    • Ankyrin (most common)
    • Band 3
    • Spectrin
    • Band 4.2 (Palladin)
    • Glycophorin A
  • Life span of red cells reduced to 10-20 days (Normal 120 days)
  • Mutations in Ankyrin are the most common cause in hereditary elliptocytosis

Pathophysiology of Hereditary Spherocytosis

Clinical features of Hereditary Spherocytosis

  • Anemia, Jaundice, Splenomegaly are classical features
  • Gallstones, Leg ulcers
  • Aplastic crisis may be triggered by Parvovirus B19 infection
  • Hemolytic crisis may be precipitated by Infectious mononucleosis

 

Lab features and Diagnosis of Hereditary Spherocytosis

  • Spherocytosis in peripheral smear lacking central pallor (hyperchromic)
  • MCV ↓ MCHC ↑ (the only condition where MCHC is increased)
  • Osmotic fragility increased – main diagnostic test (RBCs abnormally susceptible to lysis in hypotonic media)
  • Diagnosis: based on red cell morphology and a modified version osmotic fragility test (pink test)

Normal RBCs and Spherocytosis in Hereditary Spherocytosis

Difference Between Normal RBCs and Spherocytes (Hereditary Spherocytosis)

Treatment of Hereditary Spherocytosis

  • Splenectomy is the TOC but not before the age of 4 years
  • Pneumococcal vaccination before splenectomy

 

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Hereditary Spherocytosis

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