Thalassemia Diagnosis

Diagnostic technique for determination of Thalassemia carrier status or major is Haemoglobin Electrophoresis.

Diagnostic techniques for determining foetal health are being slowly but progressively incorporated into obstetrical practice. At present the main method of pre-natal diagnosis available in Pakistan is PCR for Thalassemia related mutations on Chorionic Villus Sample (CVS) obtained in 8 to 12 weeks of pregnancy.
CVS is done under ultrasound guidance. The sample is subsequently tested by PCR for Thalassemia mutations.
Treatment of Thalassemia is very costly, whereas prevention is quite economical. Hence “Prevention is certainly better than cure” when we are considering Thalassemia.
Thalassemia is a totally “preventable disease” and may be effectively prevented by creating awareness and persuading unmarried people to go for their test on priority basis before getting married or at least in early pregnancy. This fatal disease can be prevented with a simple and inexpensive blood test called “Haemoglobin Electrophoresis”. This blood test costs just a few hundred rupees, which is nothing compare with lifelong trauma of repeated blood transfusions, financial burdens, hospital visits, daily injections, psychological stress and regrets. Counselling must be done in accordance with the cultural and religious guidelines for prevention of Thalassemia.