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.

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