Sickle Cell Anaemia

Question 1

Aetiology sickle cell?

Answer 1

Autosomal recessive mutation of HbA

HBB gene

Question 2

What type of mutation is sickle cell?

Answer 2

Missense

Question 3

What does the missense HbA mutation lead to?

Answer 3

Misshapen B-globin chain

Question 4

Pathology of sickle cell?

Answer 4

Misshapen b globin can carry oxygen but sickles when deoxygenated

Polymerates with other sickles

Question 5

What does the sickle polymerisation lead to?

Answer 5

Intrinsic extravascular haemolysis

Vaso-occlusion

Question 6

What can vaso-occlusion cause in sickle cell?

Answer 6

• Stroke
• Pain
• Acute chest syndrome

Question 7

What is acute chest syndrome?

Answer 7

Pulmonary hypertension

Question 8

Typical presentation?

Answer 8

” 6 month old black baby presents with 2 day history of fever and painful hands that are swollen. He has been totally hysterical for 6 hours and has not been feeding as much. “

Question 9

Symptoms?

Answer 9

Vaso-occlusion
- Pain and swelling of hands

Pain
- Bone pain from expansion

Dactylitis

Chronic haemolysis

Question 10

What can chronic haemolysis lead to?

Answer 10

Pigment gallstones

Question 11

Investigations?

Answer 11

Newborn blood spot screening

Bloods

CT head

CxR

Question 12

What bloods are done?

Answer 12

FBC
Reticulocyte count
Blood film
Haptoglobin levels

Question 13

What is seen on blood smear?

Answer 13

Howell jolly bodies

Question 14

When is a CT head implicated?

Answer 14

Stroke

Moya moya disease

Question 15

When is a CxR implicated?

Answer 15

Acute chest syndrome

Question 16

What would a CxR of acute chest syndrome show?

Answer 16

Bilateral infiltrates

Question 17

Acute management?

Answer 17

O2

Pain meds

Question 18

Prophylaxis?

Answer 18

Increased risk of pneumonia

• Penicillin
• Vaccinate
• Folic acid

Question 19

What disease modifying treatment is there for sickle cell disease?

Answer 19

Chronic transfusion
Hydroxycarbimide
Bone marrow transplant