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Shahid Husain
Monday, September 10, 2012
From Print Edition
 
 

 

Karachi

 

Pakistani doctors have made a “revolutionary leap” in the treatment of thalassaemia by succeeding in treating the deadly disease without blood transfusion as well as identifying the gene mutations that cause the disease, a medical expert said on Sunday.

 

Speaking at a news conference at the Karachi Press Club, eminent haematologist and transplant physician Dr. Tahir S Shamsi said the country’s medical experts have succeeded in treating thalassaemia without blood transfusion. He was flanked by Dr Saqib H Ansari, who was awarded a PhD degree on his laborious research on the disease.

 

The 10-year research conducted by Dr Shamsi and Dr Ansari and others in collaboration with the National Institute of Child Health and the National Institute of Blood Disease and Bone Marrow Transplantation has resulted in evolving a cheap drug and identification of five out of 17 genetic disorders associated with the disease. The drug merely costs Rs7.

 

The research has already been published in reputable American medical journal “Journal of Paediatric Haematology Oncology.”

 

“As a result of the findings of this research, the reliance on blood transfusion for thalassaemia patients can be totally eliminated or at least reduced. Around 6,000 to 9,000 children with the disease linked to cousin marriages needed blood transfusion that was unbearable for most of the parents. Now these children will get enough haemoglobin and live normal lives.”

 

Dr Ansari said positive results were witnessed in patients aged between one and 16. “Now 40 percent of thalassaemia patients can live normal lives without blood transfusion.”

 

Dr Shamsi said they had investigated the genetic marker and that showed positive results.

 

“We have reached the conclusion that thalassaemia patient should first have a genetic test. Parents have been bringing their children suffering from thalassaemia not only from the interior parts of Sindh but also from far-flung areas of Balochistan and even Iran.”

 

He said an independent national thalassaemia centre was needed in the country and it could only be established if the State lent a helping hand. “Around Rs50 million will be required to establish such a centre.”

 

He said Pakistani medical experts have already succeeded in passing through phase III of the research and in phase IV, the drug would be marketed. “Around 100,000 children in Pakistan suffer from the deadly disease.” Dr Ansari noted that there were 9.8 million carriers of thalassaemia in the country.

 

The research

 

The original research by Saqib H Ansari, Tahir S Shamsi, Mushtaq Ashraf, Kousar Perveen, Tasneem Farzana, Munira Borhany, Sajida Erum and Tabassum Mehboob published in American “Journal of Paediatric Haematology Oncology” says,: “Packed red blood cell (PRC) transfusion with iron chelation was the mainstay of treatment for b- thalassaemia major. This perspective interventional trial serves as a follow up to our similar earlier study that evaluated the efficacy and safety of hydroxyurea (HU) in minimizing PRC transfusions in patients with b- thalassaemia major.”

 

The study concluded that HU was found to be safe in patients with b-thalassaemia major, and resulted in the reduction of transfusion requirement and in an increase in the interval between transfusions.

 

Thalassaemias are a heterogeneous group of inherited disorders of heamoglobin (Hb) synthesis resulting in life-threatening anemia and require regular blood transfusion for survival. The World Health Organisation

 

has identified control of heamoglobinopthies, particularly b-thalassaemia, in developing world as a priority. An estimated 5,000 to 9,000 children with b-thalassaemia are born annually and the projected carrier rate was five percent.

 

In Pakistan, the average annual expense of management of a child with thalassaemia was $4,400 per patient - 10 times the annual per capita income. In addition, sufficient safe blood was not readily available and there was high prevalence of hepatitis B and C in the general population with an increased risk of transfusion-transmitted infections. Therefore, efforts were being made to implement preventive strategies, but simultaneously researchers were also looking for “non-transfusion approaches” to manage b-thalassaemia.