Hereditary Acquired Anaemia
• Hereditary acquired anaemia
• Pathophysiology and clinical
end of the PDF Notes, the students will be able to
• Explain hereditary acquired anaemia
• Describe the pathophysiology and
clinical features of Hereditary Spherocytosis
• Explain the pathogenesis of
hereditary disorders of red cell interior
• Explain haemoglobinopathies
Hereditary Acquired Anemia
• Hereditary haemolytic anaemias are
usually the result of intracorpuscular defects.
• Classified into 2 groups:
1) Hereditary abnormalities of red cell
Hereditary disorders of the interior of the red cells
A. Hereditary Abnormalities of Red Cell Membrane
types of inherited red cell membrane defects:
Hereditary elliptocytosis (hereditary ovalocytosis)
• The molecular abnormality in
hereditary spherocytosis is a defect in proteins which anchor the lipid bilayer
to the underlying cytoskeleton.
1) Spectrin deficiency: deficiency in the structural protein
of the red cell membrane, spectrin
• Mutation in spectrin- α−spectrin-
• Mutation by β-spectrin results
in mild Anaemia.
Ankyrin abnormality: defect
in ankyrin, protein that binds protein 3 and spectrin
• 1. Anaemia is usually mild to moderate.
• 2. Splenomegaly is a constant
• 3. Jaundice occurs due to
increased concentration of unconjugated (indirect) bilirubin in the plasma
(also termed congenital haemolytic jaundice).
• 4. Pigment gallstones are