Haemoglobinopathies

Question 1

3 types of haemoglobinopathies - give an example

Answer 1

1. decreased/no synthesis of globin chains (a or b thalassemia).
2. Structural variation to Hb (sickle cell anaemia).
3. persistent fetal haemoglobin HbF (not clinical).

**it is possible to have combination

Question 2

what does alpha thalasseia mean in terms of Hb strcutre. What does Beta thalassemia mean?

Answer 2

none or only some alpha chains are produced. Hb is mainly made of beta chain.
Vice versa for beta

Question 3

normal values of adult Hb?

Answer 3

HbA 97%, HbA2 2%, HbF 0.5%

Question 4

what does the severity of a thalassemia relate to?

Answer 4

relative imbalance of alpha and beta chains

Question 5

genetic mutation for each of alpha, beta and sickle cell?

Answer 5

alpha = large deletion.

other 2 are point mutations

Question 6

treatment for beta thalasseima

Answer 6

blood transfusion (every 3-4 weeks) and iron chelation (reduces iron).
Eventually leading to splenectomy, and hormone replacement therapy for females.

Question 7

symptoms of beta thalasseima? (4)

Answer 7

failure to thrive, anaemic, thinning of long bones & cranial bones(to make more blood cells) ,facial maxillary overgrowth
Hepatosplenomegaly