Thalassemia Flashcards

1
Q

what type of genetics is thalessemia?

A

autosomal recessive

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2
Q

what is thalessemia?

A

genetic defect in Hb protein chains
-Alpha (LC) - Chromosome 16 deletion
-Beta (MC) - Chromosome 11 mutation

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3
Q

Sx of thalessemia?

A

General anemia +
frontal bossing
Chipmunk faces
Neonatal jaundice (haemolytic)

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4
Q

Dx of thalessemia?

A

Microcytic anemia
High ferritin = Fe overload
GS = Hb electrophoesis
Xray skull = hair on end appearance

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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

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