Pathology Flashcards
1
Q
Paroxysmal Nocturnal Haemoglobinuria
A
PIGA gene mutation (Phosphotidyl inosital glycan A)
• ↓Synthesis :
- CD55 : DAF.
- CD59 : MiRL (More imp).
• ↑Risk of leukemia
C/F: Pancytopenia + Nocturnal hemoglobinuria + thrombosis
Investigations :
Ham’s test (Acidified serum lysis). → Lysis of RBC’s in a mildly acidic pH due to complement fixation.
• Flow cytometry (CD55 and CD59) : Best test. (Gold standard)
• Bone marrow biops: Hypercellularity with erythroid hyperplasia
