Beta Thalassaemia

Question 1

Defin

Answer 1

Chrom 11 beta globin gene pt mut. 
Reduc or absent beta chain produc.
Heterozyg minor or trait mild anaemia. 
Intermed mod anaemia no transfus. 
Major cooleys anaemia, early px anaemia and fail thrive. Extra medullary haemopiesis and osteopenia.

Question 2

Investig

Answer 2

FBC
MCV
Blood film 
Fe
HbA2, HbF
Hb electrophoresis
MRI

Question 3

Mx

Answer 3

Lifestyle
Folate supplem
Regul transfus
Iron chelators
Ascorbic acid
Splenectomy
Horm repl and tx of horm complics
Marrow transplant