B-Thalassaemia

Question 1

PATHOLOGY: B-Thalassaemia

Answer 1

AUTOSOMAL RECESSIVE DISORDER

(multiple gene defects)

• Decrease in B-globin production
• Leads to chronic anaemia

Question 2

AETIOLOGY: B-Thalassaemia

Answer 2

• Autosomal recessive disorder
• Mediterranean, Middle East, Asia

Question 3

CLINICAL FEATURES: B-Thalassaemia

Answer 3

1. Homozygotes

• Failure to thrive
• Severe anaemia
• Splenomegaly
• Bone hypertrophy

2. Heterozygotes

• Asymptomatic
• Mildly anaemic
• Decreased MCV

Question 4

INVESTIGATIONS: B-Thalassaemia

Answer 4

• HB electrophoresis
• Blood film

Question 5

MANAGEMENT: B-Thalassaemia

Answer 5

1. Blood transfusions
   * 2-4 weekly if major
2. Medication

• Iron chelators (protect against cardiac disease)
• Ascorbic acid (increase iron output)
• Folate supplements

3. Surgery
   * Splenectomy if hypersplenism

Question 6

COMPLICATIONS: B-Thalassaemia

Answer 6

• Secondary haemosiderosis from repeated blood transfusions
• Endocrine disease