Thalassaemia

Question 1

What is thalassemia, what is it inheritance pattern, and in which groups is it most common?

Answer 1

1. Defects in genes encoding the alpha or beta globin chain.
2. Autosomal recessive
3. South and Southeast Asian, Middle Eastern and Mediterranean

Question 2

How is thalassemia diagnosed?

Answer 2

1. Microcytic hypochromic anaemia
2. Increased reticulocyte count
3. Target cells present
4. Electrophoresis - increased HbF, HbA2, reduced HbA

Question 3

What is the management of thalassemia?

Answer 3

If major, requires regular blood transfusions with iron chelation to avoid iron overload.

Question 4

What is beta thalassemia minor/trait?

Answer 4

One B allele has a mutation, mild microcytic anaemia or anaemia, incidental finding, asymptomatic no treatment required.

Question 5

What is beta thalassemia intermedia?

Answer 5

Anaemia blood transfusion may be required.

Question 6

What is beta thalassemia major and what treatment is required?

Answer 6

1. Significant abnormalities in both beta-globin genes, from 6-months old failure to thrive and severe anaemia, extra medullary haematopoiesis response to anaemia.
2. Lifelong blood transfusions needed resulting in iron overload.