haemolytic anaemia class for mbbs students

1. HEREDITARY SPHEROCYTOSIS
• Inherited disorder
• Autosomal dominant
• Incidence 1: 5000 (underestimate)
• Pathogenesis
-Molecular abnormality
-Involves spectrin & ankyrin

2. Spherocytes

3. Major clinical features
• Anaemia
• Jaundice
• Splenomegaly
• Severity of hemolysis varies & so clinical features
• Mostly – asymptomatic
• Compensated chronic hemolytic state
• Few – severe hemolysis

4. Crisis
• Hemolytic – associated infection
• Megaloblastic – pregnancy associated
• Aplastic – parvovirus B19

5. Associated symptoms
• Pigment gallstones – symptomatic in 50%
• Chronic leg ulcers

6. HEREDITARY ELLIPTOCYTOSIS
• AR or AD
• 1 per 4000 to 5000
• Red cells of oval or elliptic shape are normally found in birds, reptiles
& camels.
• In humans – in Hereditary Elliptocytosis

7. HEREDITARY ELLIPTOCYTOSIS
• Elliptic shape is acquired as the cell deforms to traverse the micro
circulation but does not spring back to its initial biconcave shape.
• Abnormality in anchor protein – α spectrin or protein 4.1.
• Offers relative protection from malaria.

8. Elliptocytes

9. RED CELL ENZYMOPATHIES
• During its maturation, RBC loses its nucleus, ribosomes & mitochondria –> loses
its capacity for protein synthesis & oxidative phosphorylation.
• Mature RBC has relatively simple pattern of intermediary metabolism.

10. • ATP generated from Embden – Meyerhoff Pathway –> drives the cation
pump –> ionic milieu within the RBC
Pyruvate kinase
Hexokinase
• HMP shunt – protects from oxidative stress
Those with deficiency of HMP enzyme – unable to maintain an adequate level
of reduced glutathione in their RBC
Hb sulphydryl groups become oxidized –> Hb tends to precipitate within RBC
forming Heinz bodies

11. G-6- P D DEFECIENCY
• Most common enzymopathy
• Affects 10% of world population
• G6PD gene located on X-chromosome
• Sex linked trait
• 400 subtypes of G6PD – B common

12. Clinical features:
• Variable
• Acute drug induced hemolysis
a) Analgesics -Aspirin, phenacetin
b)Antimalarials
c)Antibiotics-Sulphonamides,Ciprofloxacin
d)Misc – Dapsone,Quinidine

13. Chronic compensated hemolysis
Infection or acute illness
Neonatal jaundice
Favism – broad beans

14. DIAGNOSIS
• During attack:
nonspherocytic intravascular hemolysis

15. DIAGNOSIS
• Peripheral blood smear
-bite cells
-blister cells
-irregular shaped small cells
-Heinze bodies

16. CELL DESCRIPTION
• Bite cells are red blood cells that contain a semi-circular indent on
the edge of their membrane, giving the appearance of a bite being
taken out of the cell.
• Blister cells on the other hand, have cytoplasmic projections that
fuse together, creating a vacuole on the edge of the membrane,
giving the appearance of a blister.

17. Blister cell

19. CELL FORMATION
• Bite and Blister cells are often seen together, and may form
through various mechanisms
Red blood cells originally containing inclusions are “pitted” or
removed by macrophages in the spleen, resulting in bite or
blister cells
When the red blood cell is impaled by fibrin strands, the
membrane can reform and produce a vacuole which results in a
blister cell
Bite cells can also form when a blister cell ruptures

20. DIAGNOSIS
• G 6 P D levels
Screening - if low then
Direct quantitative assessment

21. TREATMENT
• Stop offending drug
• Treat underlying infection
• Acute hemolysis- blood transfusion