Haemoglobinopathies

Question 1

Adult Hb consists of what?

Answer 1

2 alpha

2 beta chains

Question 2

Foetal Hb consists of what?

Answer 2

2 alpha

2 gamma chains

Question 3

Which ethnicity is sickle cell disease common in?

Answer 3

Afro-Caribbeans

Question 4

What is sickle cell disease?

Answer 4

Mutation of the beta globin gene resulting in a HbS variant

Question 5

How is sickle cell disease inherited?

Answer 5

Autosomal recessive disease

Question 6

How would a sickle cell patient’s RBCs appear on a blood film?

Answer 6

Sickle shaped

Question 7

How would you manage sickle cell crisis? (5)

Answer 7

Analgesia
Oxygen to achieve target stats
IV fluids
Antibiotics
Blood transfusion

Question 8

What are the acute complications of sickle cell anaemia? (4)

Answer 8

Vaso-occlusive crisis
Stroke/ TIA
Infection
Acute chest syndrome (chest pain, cough, lung infiltrates)

Question 9

What are the chronic complications of sickle cell anaemia? (3)

Answer 9

Pulmonary hypertension
Joint damage
Renal disease

Question 10

What are the disease-modifying treatments for sickle cell anaemia? (3)

Answer 10

Hydroxycarbamide (increases HbF conc)
Bone marrow transfusion (risk of iron overload)
Stem cell transplant

Question 11

What is thalassaemia?

Answer 11

Hereditary diseases causing faulty production & premature destruction of RBCs

Question 12

Thalassaemia is common in which continents? (3)

Answer 12

Mediterranean
Middle East
Asia