Wake-up call: Pakistan a red zone for thalassaemia

Health experts urge people to conduct pre-marital screening.


Sehrish Wasif May 08, 2011



Pakistan is a red zone for thalassaemia as the country has one of the largest number of patients and carriers of the disease. The total number of thalassaemic patients in the country amount to around 10 million, including a staggering number of carriers in Balochistan province. Around five to six thousand children are born every year with the disease in Pakistan. To top it off, the annual cost of a “life-long” treatment for thalassaemia is around Rs100,000, which is unaffordable by a majority of the population.


Health experts stated this at a seminar titled “Thalassaemia prevention and awareness” organised by Shifa College of Medicine and Shifa Foundation at the hospital’s auditorium to mark World Thalassaemia Day on Saturday. The day is celebrated on May 8 to raise awareness about the genetic disease. Apart from notable health experts, medical students and thalassaemia patients along with their family members were also present at the seminar.

Speaking on the occasion, Dr Nadir Ali of Armed Forces Institute of Pathology (AFIP) explained that thalassaemia is the most common single-gene inherited blood disorder, which can cause decreased and defective production of haemoglobin which effects the transportation of oxygen to the body tissues. Haemoglobin is the oxygen carrying part of the red-blood cells. The disease results in severe anaemia, causing gross enlargement of liver and spleen in patients, failure to grow and develop, skull deformities and death during childhood or early teens, he said.

Dr Ali said that the high prevalence of thalassaemia in the country is due to lack of awareness and laws for pre-marital thalassaemia screening. He said the disease has become the biggest burden on our blood transfusions centres and a national health concern.

“Choice is yours. Conduct pre-marital screening or to live a life of regrets, psychological trauma and financial burdens,” was the public message given by speakers on the day.

Consultant Haematologist at Excel Labs, Dr Faiza Fahim said that thalassaemia is a preventable disease and can be prevented by timely identification of thalassaemia carriers, which should ideally be done before marriage or if not then in early pregnancy. She said that once a couple is aware of their thalassaemia carrier status, it is absolutely essential that they go for a pre-natal diagnostic test, called Chorionic Villus Sampling (CVS), to prevent the birth of a thalassaemia major child. Thalassaemia major, she explained, is a much serious blood disorder and patients have to get blood transfusions every year, throughout their lives, to survive.

She said that blood transfusions, bone marrow transplant and gene therapy are possible treatments for thalassaemia major patients. Bone marrow transplant can be the best option to cure thalassaemia but the procedure is uncommon in Pakistan due to its high costs, she said. Besides this, Dr Fahim said that blood transfusions along with iron-chelating therapy can add 10 more years to the life of a thalassemia patient, but again the procedure is not practiced due to its high costs of iron-chelating therapy, which is why majority of thalassaemic children die at the age of ten.

Dr Fahim also said due to society norms and fear, parents are reluctant to get their daughters tested for thalassaemia as they think that it would create “hurdles in their marriages”.

On the occasion, medical students performed a stage show in which they informed audiences about the difference between thalassaemia minor and major, significance of its diagnosis, early treatment and prevention.

Published in The Express Tribune, May 8th, 2011.

COMMENTS (2)

Zulfikar | 13 years ago | Reply @QuranVsHadith: Me and my wife are not cousins or related to each other. Still we have a Thalassemic Child, Pre-marital testing is the key to averting disease.
QuranVsHadith | 13 years ago | Reply "thalassaemia is the most common single-gene inherited blood disorder" How about NOT marrying your cousins? Why is it that no one can see what is happening through inbreeding in this country. When two relatives, first or second cousins for example, marry, they have a very good chanceof having the identicle DOMINANT genes....as well as the same identicle LATENT or RESSESIVE genes. If mother and father have the same recessive genes they will become a dominant gene in the child they have together. That means that the population will become sicker and sicker and more and more deformed. We are already about 3 generations into this being habit with marriages. Pakistan is doing it to itself.
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