beta thalassaemia - haemaglobinopathies

Question 1

how does haemoglobin exist?

Answer 1

1. 2 x alpha chains

2. 2 x beta chains

Question 2

define beta thalassaemia?

Answer 2

1. genetic disorder

2. deficiency in production of Beta globin chains

Question 3

How is Beta thalassaemia inherited?

Answer 3

autosomal recessive disease

Question 4

Beta thalassaemia (minor)

Answer 4

1. B+ - reduced beta globin chain production

2. B-o - no beta globin chain production

Question 5

Beta thalassaemia (major)

Answer 5

1. B-o - no beta globin chain

2. B-o - no beta globin chain

Question 6

beta thalassaemia - pathophys of clinical features

Answer 6

1. alpha chains accumulate and clump togather
2. haemolysis
   - haem break down-

• billirubin -> jaundice
• iron -> 2nd haemochromatosis

3. increases compensatory erythropoesis

Question 7

When do symptoms first develop?

Answer 7

symptoms develop 3 - 6 months

Question 8

Clinical features

Answer 8

1. Pallor / shortness of breath
2. Hepatospleomegaly
3. Increase forehead and cheek bones - ‘Chimpmonk features’
4. Haemochromatosis complication - (arrythmias/cirrhosis)