HEREDITARY ELLIPTOCYTOSIS Flashcards
1
Q
diagnosis
A
- > 25% Elliptocytes / Ovalocytes (Not a hard rule)
2
Q
gene
A
- Mutations in ⍺-Spectrin or β-Spectrin Proteins
- Autosomal Dominant
3
Q
clinical features
A
Asymptomatic, DAT Negative, Anaemia, Reticulocytosis, Jaundice, Gallstones, Splenomegaly, FMH NOT Hypochromic / Microcytic
4
Q
investigations
A
+/- AnaemiaElliptocytesPolychromasiaTarget CellsHowell Jolly BodiesThrombocytosisPlatelet Anisocytosis
5
Q
management
A
Supportive Care Splenectomy
