Case study

25 yr old female from rural bengal

Presented with on & off jaundice from
childhood
Generalised weakness and easy
fatigability
No H/O BT
No Family H/O
No other significant clinical history
O/E:
Pallor & Icteric, Hemolytic facies
Hepatosplenomegaly

Mild aniso-poikilocytosis,
Macrocytosis,
Polychromasia,
occasional tear drop
cells

 S.Vitamin B12 WNL (322)

S.Folate WNL (>20)
G6PD screening normal

USG whole abdomen and

pelvis

Hepatomegaly normal echotexture

Gall bladder multiple stones
Splenomegaly
Portal vein 9 mm
No other obvious abnormalties

 Mutation studies for common alpha and

beta globulin gene mutation is negative

PNH work up

BMA and biopsy