CS2- Sickle cell disease

Question 1

Cause of sickle cell anaemia

Answer 1

Mutation of haemoglobin A to haemoglobin S
Glutamate converted to valine
Hydrophilic aa to hydrophobic aa

Question 2

Lifespan of sickle RBCs

Answer 2

Shorter than healthy RBCs

Question 3

Result of Hb breakdown

Answer 3

Bilirubin

Question 4

RBC breakdown

Answer 4

RBC–>macrophage–>bilirubin–>blood stream–>liver–>excreted

Question 5

Colour of biliruben

Answer 5

Yellow

Question 6

Triggers of crisis

Answer 6

Exercise, Cold, Infection, Dehydration

Question 7

Main symptoms of SCA

Answer 7

Sickle cell crises
Increased risk of infection
Anaemia- tiredness, shortness of breath
Bone crises- vascular occlusion
Stroke- vascular occlusion in brain (silent/haemorrhagic)
Visual loss- vascular occlusion near eye

Question 8

How is SCA inherited?

Answer 8

Mitochondrial (passed on through mitochondria from mother)

Question 9

Screening for SCA

Answer 9

During pregnancy
Heel prick test for newborns

Question 10

Signs of SCA

Answer 10

Higher reticulocyte count
Lower RBC count
Lower Hb count
(Maybe higher MCV due to immature RBCs being larger)

Question 11

Treatments of SCA

Answer 11

Drinking plenty of fluids
Stay warm
Daily antibiotics
Hydroxycarbamide to reduce symptoms
Regular blood transfusions
Opioids

Question 12

ICE

Answer 12

Ideas- an unemotional self assessment from the patient
Concerns- their emotional perception of the situation, worries
Expectations- what sort of help are the patients seeking
(Patient-centred approach)

Question 13

CRISPR-Cas9 gene editing

Answer 13

1)Guide RNA with CAS9 enzyme can target and repair faulty beta globin gene
2)Cas9 promotes production of fetal haemoglobin by breaking down repressor gene

Question 14

Acute crises

Answer 14

Sudden and very painful

Question 15

Chronic crises

Answer 15

Accumulation over a long time and slowly gets more painful