Thalassemia is one of the most challenging diseases being faced by the mankind with virtually no permanent treatment for those who suffer from it. The only real treatment is periodical replenishment of blood through transfusion. This was the conclusion of a seminar titled "Thalassemia Prevention and Awareness", organised by Shifa College of Medicine and Shifa Foundation at Shifa International Hospital on Saturday.
Thalassemia is the most common single gene inherited blood disorder that can cause decreased and defective production of haemoglobin, which effects transportation of oxygen to body tissues. The disease is the biggest burden on blood transfusions centres and has become a national health concern. Thalassemia prevalence is relatively high in our country due to lack of awareness in general public about this dreaded disease while no law for pre-marital screening exists, said Dr Nadir Ali, AFIP at the seminar.
The participants said that blood transfusions, and bone marrow transplant and gene therapy are possible treatments for Thalassemia major patients. It is a serious blood disorder and patient gets transfusion dependent very early in life. The disease is the most prevalent inherited blood disorder in Pakistan with more than 5,000 thalassemia major births recorded every year and more than one crore (10 million) population are carriers of this dreaded disease.
Thalassemia is a preventable disease and can be prevented by timely identification of the disease carriers, which should ideally be done pre-marital or if not, then in early pregnancy. Once a couple is aware of their carrier status, it is absolutely essential that they go for a pre-natal diagnostic test called CVS to prevent birth of a thalassemia major child, said Dr Faiza Fahim, Consultant Haematologist Excel Labs.
They revealed that children born with thalessemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life. Other symptoms can include bone deformities in the face, fatigue, growth failure, shortness of breath and yellow skin. Severe thalassemia can cause early death due to heart failure usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body help improve the outcome.
At present, there are over 10 million people with thalassemia minor and between 60,000 to 100,000 people have thalassemia major in Pakistan. The blood disorder, which manifests six months after birth, can be fatal as the body's red blood cells do not possess the ability to regenerate. In such a situation, the person needs regular blood infusions. The reason of thalassemia major is cousin marriages or inter-family marriages. Experts say that six to seven thousands children are born with the genetic disease every year while majority of these children hail from Khyber Pakhtunkhwa province.
During the awareness seminar, Dr Matiur Rahman, Consultant Pulmonologist, Shifa International Hospital informed that there are existing 240 million healthy carriers world-wide and approximately there are 10 million estimated carriers in Pakistan. "Choice is yours! Pre-marital screening should be done or regrets, psychological disorders, financial burdens, lifelong trauma of repeated blood transfusions, daily costly medicines and enormous problems and challenges", was the message given by Ayesha Abid, a social worker.
On the occasion, students from Shifa College of Medicines presented short stage play on the challenges and miseries faced by Thalassemia minor and major patients. Public service message on the disease's prevention by TAPP Pakistan was also played at the seminar.
The participants included Lieutenant General Faheem Ahmad Khan (Retd), President Thalassemia Welfare Society, Rawalpindi, Dr Nadir Ali, AFIP, Dr Matiur Rahman, consultant Pulmonologist, Shifa International Hospital, and Dr Faiza Fahim, consultant Haematologist Excel Labs. Doctors from Islamabad and Rawalpindi, Thalassemia major patients and their families, Thalassemia carriers, medical and non-medical students, general public, members from different organisations attended the seminar.