Thalassaemia

Thalassemia is a genetic blood disorder, transmitted to the offspring from their parents. Due to this disease, hemoglobin which is contained in every RBC, is abnormally produced so the RBCs are misshapen and are broken down soon after their formation. This leads to a drop in hemoglobin level and the resulting anaemia needs to be treated with blood transfusion.

An estimated 6,000 to 8,000 Thalassaemia Major children are born in Pakistan every year, although no documentary registry is available. The estimated carrier rate is 5-7%, with 9.8 million carriers in the total population. They do not need blood transfusions themselves but a marriage of two such persons, they may give birth to a child with Thalassemia major, who requires regular blood transfusion for the rest of their life. As a rough estimate, at any given time, more than 120,000 Thalassemia major children may be found in our country, getting incomplete treatment with infrequent blood transfusions and inadequate iron chelation therapy. For optimum treatment every Thalassemic child will need frequent transfusions of screened packed red cells and regular iron chelation therapy

Thalassaemia is preventable. In countries like Cyprus and Turkey where carrier rates were very high and 18% of population carried different genes of haemoglobinopathies, have completely stopped birth of new Thalassaemic children. In Iran, compulsory pre-marriage blood tests and genetic counselling have resulted in very high success rate.

Fatimid Foundation began Chorionic Villus Sampling in year 2015 and have so far conducted more than 280 free CVS tests.