Hereditary Acquired Anaemia

Content

•       Hereditary acquired anaemia

•       Pathophysiology and clinical
features

•       Pathogenesis

•       Haemoglobinopathies

Objective

At the
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
membrane

2)
Hereditary disorders of the interior of the red cells

A. Hereditary Abnormalities of Red Cell Membrane

3 important
types of inherited red cell membrane defects:

1)
Hereditary spherocytosis

2)
Hereditary elliptocytosis (hereditary ovalocytosis)

3)
Hereditary stomatocytosis.

Hereditary Spherocytosis
Pathogenesis

•       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-
severe anaemia

•       Mutation by β-spectrin results
in mild Anaemia.

2)
Ankyrin abnormality: defect
in ankyrin, protein that binds protein 3 and spectrin

CLINICAL FEATURES

•       1. Anaemia is usually mild to moderate.

•       2. Splenomegaly is a constant
feature.

•       3. Jaundice occurs due to
increased concentration of unconjugated (indirect) bilirubin in the plasma
(also termed congenital haemolytic jaundice).

•       4. Pigment gallstones are