PAKISTAN BATTLE AGAINST THALASSEMIA: an overview at the battle field of Pakistan against the genetic disorder
Angel Nadeam
Student
What is Thalassemia?
Thalassemia are heterogeneous grouping of genetic disorders that results from decreased synthesis of alpha or beta chain of hemoglobin. Hemoglobin plays a very significant role as oxygen carrying component of red blood cells. It consists of two types of proteins alpha and beta protein. If the body is not able to make neither of these proteins the red blood cell donot form correctly or are deformed, this eventually causes insufficient oxygen supply to body, this causes anemia. Thalassemia is an inherited disease which is carried by one of the parents that results in genetic mutations. Ultimately the child would be diagnose with this disease at an early age. The increasing cases of this deadly disease in pakistanPakistan has estimated population of approximately 225 million. In pakistan beta thalassemia trait frequency ranges between 5.0 -7.0%, thus, there are more than 10 million in carriers in the country, and every year, around 5000 children are diagnosed to carry beta thalassemia major in pakistan. Management protocols for this condition are not yet standardized leaving transfusion therapy as the primary treatment strategy. This heavy reliance on ongoing care imposes a severe economic burden on the population, as many citizens come from the lowest economic tiers making it impossible to fund their thalassemic treatments.
Despite being largely a preventable disease, its cases are still drastically rising day by day. Its awareness is only reliant on Non Governmental Organisations (NGOs). There is a very low public awareness about thalassemia genetic nature, especially in rural areas and among low literacy groups. Even many effected parents are unaware of prenatal diagnostic options, and there child have to suffer from the consequences after he or she is born. The deep fixed cultures and traditions of marrying within the family has played a significant role in increasing the same recessive gene, leading to affected offspring. Implementations and enforcement remain significantly weak among many provinces. There is no national level well funded program that could help people.
There are many strategical ways to spread awareness about thalassemia among civilians. Public awareness campaigns, utilising television, radio, and social media platforms to spread awareness about this disease. Training General practitioners and lady health workers to counsel public at large especially in rural and under developed localities. The government must provide adequate resources to support thalassemia management and prevention. This includes funding all those families who are unable to afford medical bills, ensuring blood bank safety to prevent transfusion or transmitted infections is the only way to break this chain of devastating disease and ensure a healthy future for generations to come.
