Thalassemia: Current Situation in Pakistan
Aisha Khalid*, Abdul Mueed Khalil Butt, Ruba Shahid, Amsha Hoor
ABSTRACT: Thalassemia, inherited genetic disorder is among the main medical issues facing Pakistan like many other countries of the world. The main factor of
thalassemia prevalence with frequent rate in Pakistan is consanguineous marriages causes misery not only to the patients but for their families also. The current treatment strategies such as blood transfusion, chelation therapy (Fe), bone marrow and stem cell transplantation are not compatible due to high iron load, development of alloantibodies, arthritis and severe agranulocytosis like side effects. In developed countries regular screening of pregnant women is done to control the prevalence of Beta-thalassemia but in Pakistan genetic counselling and parental diagnosis resources are limited to control the birth rate. Additionally, in the absence of coherent policy at national level creates more pressure on the health care system of the country. Thalassemia in Pakistan is managed by traditional diagnostic methods, such as chromatography, Hb electrophoresis and ARMS-PCR. The ARMS-PCR can only detect the commonly known mutations while the other ethnic specific, novel mutations remain obscure. Next-generation sequencing (NGS) offers advantages over standard PCR, including higher sensitivity and the ability to identify novel mutations. Health system and cultural issues creates hurdles to implement the policies of public health genomics
in Pakistan. So, the government of Pakistan must take some measure to ensure the health quality of human and also make short and long term policies to overcome this genetic disorder.