haemoglobinopathies

Question 1

diagnostic for thalassemia

Answer 1

level of Hb2 in the blood

Question 2

in adult, what Hb chains

Answer 2

2 alpha and 2 beta

Question 3

thalassaemia is

Answer 3

reduction or absence of globin chain production

Question 4

sickle is (in terms of genetic)

Answer 4

amino acid substitutions in the globin chain

Question 5

b thalassemia mode of inheritance

Answer 5

AR

Question 6

b thalassemia blood film

Answer 6

very pale small hypochromic rbc

Question 7

pathology of b thalassemia

Answer 7

erythroid hyperplasia
ineffictivve erythropoesis
extramedullary erythropoersis
bone deformity - erythropoietic masses
failure to thrive
HF infant death (<5yo)

Question 8

tx b thalassemia

Answer 8

reg (3/4 wk) transfusion
iron chelation therapy
not usually splenectomy

Question 9

what is crucial other tx with frequent transfusions

Answer 9

iron chelation to avoid toxic iron levels

Question 10

consequence of iron overload

Answer 10

HF and endocrine failure

Question 11

3 iron chelating drugs

Answer 11

ferriprox Desferrioxamine
Deferasirox

Question 12

childhood stroke 250x more common in

Answer 12

sickle

Question 13

pneumococcal infection in sickle children?

Answer 13

very bad news
take penecillin 2x day

Question 14

effective drug for sickle

Answer 14

hydroxycarbamide