Thalassaemia

Question 1

Cause of thalassaemia

Answer 1

Genetic defect in the protein chains that make up haemoglobin.

Question 2

Inheritance of thalassaemia

Answer 2

Autosomal recessive

Question 3

Signs and symptoms of thalassaemia

Answer 3

Fatigue, pallor, jaundice, gallstones, splenomegaly, poor growth and development, proounced forehead and malar eminences

Question 4

Anaemia in thalassaemia

Answer 4

Microcytic anaemia

Question 5

Diagnosis of thalassaemia

Answer 5

FBC, haemoglobin, electrophoresis to diagnose globin abnormalities, DNA testing

Question 6

Why does iron overload occur in thalassaemia

Answer 6

Result of the faulty creation of RBCs, recurrent transfusions and increased absorption of iron in the gut in response to anaemia

Question 7

Symptoms of iron overload

Answer 7

Fatigue, liver cirrhosis, infertility, impotence, HF, arthritis, diabetes, osteoporosis and joint pain

Question 8

Management of alpha thalssaemia

Answer 8

Monitoring FBC and complications. Blood transfusions, splenectomy may be performed, bone marrow transplant can be curative

Question 9

Types of beta thalassaemia

Answer 9

Minor, intermedia and major