Thalassemia Flashcards
1
Q
what type of genetics is thalessemia?
A
autosomal recessive
2
Q
what is thalessemia?
A
genetic defect in Hb protein chains
-Alpha (LC) - Chromosome 16 deletion
-Beta (MC) - Chromosome 11 mutation
3
Q
Sx of thalessemia?
A
General anemia +
frontal bossing
Chipmunk faces
Neonatal jaundice (haemolytic)
4
Q
Dx of thalessemia?
A
Microcytic anemia
High ferritin = Fe overload
GS = Hb electrophoesis
Xray skull = hair on end appearance
5
Q
what are the Tx for alpha, beta and intermedia thalessemia?
A
Alpha = monitor, transfusion, splenectomy, BM transfusion (curative)
Beta = Minor/trait = genetic counselling
Intermedia = Transfusion / Fe chelation
Major = transfusion + splenectomy
