Intro to thalassaemia
Thalassaemia is a disorder where the body cannot produce the subunits of haemoglobin properly. There are however different types of thalassaemia and to understand this you need to know a little bit about haemoglobin,
See Haemoglobin for context
Alpha thalassaemia
This is where the alpha subunit cannot be produced to some degree. You have 4 copies of the gene to make this subunit and to reach major haemoglobin at least 3 need to be dysfunctional.
Beta thalassaemia
This where one or both of the beta subunits are dysfunctional and it leads the delta subunits shouldering the load
Due to the shift from γ to ß inb the womb often this can present as sudden ß thalassaemia ~ 3 mths after birth
Major Thalassaemia
This is where there is basically no product and results in these symptoms:
Symptoms:
- Anaemia,
- Splenomegaly
- Abnormal bone development
- transfusion leading to iron overload
Intermedia Thalassaemia
in the middle
Microcytic anaemia can still be detected
Minor thalassaemia (trait)
This is where there is a slight decrease in subunits but there is no overall effect.
Microcytic anaemia can still be detected