Abstract

Thalassemia is the quantitatively inherited disorder of haemoglobin polypeptide chain synthesis. Awareness about the exact frequency of disease in our country, Pakistan, along with the appropriate knowledge of diagnostic and prevention approach will be a step forward to combat thalassemia in Pakistan. The proposed review article will provide updated information regarding the exact frequency and distribution of thalassemia in neonates in Pakistan and Internationally. All this ultimately provide a great help in establishing the policies for thalassemia prevention and control programs in Pakistan. Thalassemia is the quantitatively inherited disorder of hemoglobin polypeptide chain synthesis. Awareness about the exact frequency of disease in our country, Pakistan, along with the appropriate knowledge of diagnostic and prevention approach will be a step forward to combat thalassemia in Pakistan. The proposed review article will provide updated information regarding the exact frequency and distribution of thalassemia in neonates in Pakistan and Internationally. All this ultimately provide a great help in establishing the policies for thalassemia prevention and control programs in Pakistan.

Key words: Alpha Thalassemia, Deletions, Polymerase chain reaction, Diagnosis, Prevention