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