Thalassaemia

Question 1

What are the two main types of thalassaemia?

Describe the basic pathophysiology

Answer 1

• Alpha
• Beta

RBCs are more fragile and break down (haemolyse) more easily

Question 2

Describe the pathophysiology of alpha thalassaemia

Answer 2

Defects in alpha globin chains (coded for on chromosome 16)

Question 3

Describe the pathophysiology of beta thalassaemia

Answer 3

Defects in beta globin chains (coded for on chromosome 11)

Question 4

Thalassaemia is inherited in a (…?) pattern

Answer 4

Autosomal recessive

Question 5

Beta thalassaemia can be further subdivided into which types?

Answer 5

• Trait

- Major

Question 6

Give three clinical features of thalassaemia

Answer 6

• Microcytic anaemia (and all of its associated sx)
• Splenomegaly
• Bone deformities and FTT in severe cases, e.g. beta thalassaemia major (pronounced forehead and malar eminences)

Question 7

Describe the investigation/diagnosis of thalassaemia

Answer 7

• FBC = micorcytic anaemia

- Diagnosis is with Hb electrophoresis

Question 8

Describe the management of thalassaemia depending on type

Answer 8

Generally no management is required for alpha thalassaemia or beta thalassaemia trait

Beta thalassaemia:

• Repeated transfusions
• Iron chelation with desferrioxamine