Sickle Cell Anaemia

Question 1

sickle cell anaemia is autosomal dominant/recessive

Answer 1

recessive

Question 2

sickle cell is an abnormal mutation in the alpha/beta genes of haemoglobin

Answer 2

beta genes - not switched on till 3-6 months old

Question 3

what proportion of the UK’s afro-caribbean population are estimated to be carriers

Answer 3

10%

Question 4

what is sickle cell disease protective against

Answer 4

malaria

Question 5

pathophysiology of sickle cell disease

Answer 5

HbS forms crystals when deoxygenated and cause RBCs to sickle. these cells are fragile and haemolyse. they also occlude small vessels

Question 6

diagnostic investigation for sickle cell disease

Answer 6

haemoglobin electrophoresis

Question 7

management of an acute sickle cell crisis

Answer 7

hydrate
oxygen
analgesia
antibiotics if evidence of infection
blood transfusion

Question 8

danger of blood transfusion and how you treat it

Answer 8

iron overloading - iron chelaters to make you excrete excess

Question 9

longer term management of sickle cell

Answer 9

vaccinations
folic acid
disease modifying drugs

Question 10

how do disease modifying drugs work in sickle cell

Answer 10

switch on HbF genes so problematic HbS isn’t getting made as much

Question 11

painful crisis of sickle cell anaemia

Answer 11

vessel occlusion causes pain. can be in joints or pretty much anywhere

Question 12

how long does a painful crisis last for and what causes it

Answer 12

vessel occlusion - up to 7 days

Question 13

presentation of chest crisis

Answer 13

cough, sputum, fever, pulmonary infiltrate, SOB and tachypnoea

Question 14

what is a sequestration crisis

Answer 14

spleen enlarges suddenly and consumes lots of RBCs, rapidly reducing their volume.
causes hypovolaemia, shock and circulatory collapse

Question 15

what is hydroxycarbamide

Answer 15

a disease modifying drug which switches on the HbF genes