Diagnosis and Prevention
Diagnosis starts from physical examination and symptoms like paling of skin, frequent fatigue and bone fragility.
Clinical methods include CBC (Complete Blood Count), HPLC (High Performance Liquid Chromatography), PND ( Pre-natal Diagnosis) test, CVS (Chorionic Villus Sampling)Amniocentensis, Foetal Blood Sampling etc.
Perhaps nowhere is the saying Prevention is better than cure more accurate than with Thalassaemia. Since this dreaded disease has no cure, it is best to prevent it whenever feasible.
Typically, there could be two methods of prevention:
- By detecting it early, at the antenatal stage (i.e. before birth)
- By counseling:
Two individuals, if both are Thalassaemia Minor, are strongly advised not to marry, since their children are highly prone to be Thalassaemia Major.
If they are already married, they should be counseled and strongly discouraged to extend their family by having biological children.