Hereditary spherocytosis

Hereditary spherocytosis


Hereditary haemolytic anaemia results of intracorpuscular defects which are of 2 types-

  • Hereditary abnormalities of red cell membrane.
  • Hereditary disorders of interior of red cells.

Hereditary abnormalities of red cell membrane defects are of 3 types-

  1. Hereditary spherocytosis
  2. Hereditary elliptocytosis
  3. Hereditary stomatocytosis

Hereditary spherocytosis-

  • It is a common autosomal dominant inheritance disorder in which red cell membrane is abnormal.
  • RBC lifespan is decreased to 10- 20 days.
  • Decreased reticulocyte count is a feature aplastic crisis caused by parvovirus B-19 infection.

Pathogenesis-

  1. Spectrin deficiency–  can be α- spectrin & β- spectrin.
  • Deficiency in the structural protein of red cells membrane, spectrin.

2. Ankyrin abnormality (most common mutation)

Clinical Features-

  • Anaemia
  • Splenomegaly
  • Jaundice
  • Pigment gallstone

Lab findings-

  • Anaemia
  • Reticulocytosis
  • Abnormality of erythrocytes formed microspherocytes.
  • MCHC increased
  • Osmotic fragility increased (main diagnostic test)
  • Autohemolysis test increases & corrected by glucose.
  • Direct Coomb’s test is negative.
  • Spherocytosis.

Exam Important

Hereditary spherocytosis-

  • It is a common autosomal dominant inheritance disorder in which red cell membrane is abnormal.
  • RBC lifespan is decreased to 10- 20 days.
  • Decreased reticulocyte count is a feature aplastic crisis caused by parvovirus B-19 infection.

Pathogenesis-

  1. Spectrin deficiency-  can be α- spectrin & β- spectrin.
  • Deficiency in the structural protein of red cells membrane, spectrin.

2. Ankyrin abnormality (most common mutation)

Clinical Features-

  • Splenomegaly
  • Jaundice
  • Pigment gallstone

Lab findings-

  • Reticulocytosis
  • Abnormality of erythrocytes formed microspherocytes.
  • MCHC increased
  • Osmotic fragility increased (main diagnostic test)
  • Autohemolysis test increases & corrected by glucose.
  • Direct Coomb’s test is negative.
  • Spherocytosis.
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