
A look at the case of Thalassemia in Pakistan
The blood disorder of thalassemia occurs around the world and some of its sub-types are extremely lethal.
Nasreen* sobbed as she told the story of her family. She had lost two of her children to thalassemia. Two of them were lying on the hospital bed in front of her as blood was being transfused into their bodies. Her husband was the sole earner of her family who labored hard to keep the lives of their children safe and provide medication and treatment for their condition. This was my experience at a thalassemia center in the city of Rawalpindi, Pakistan and sadly, Nasreen’s story is not the only one. There are many people experiencing similar pain and difficulties due to a lack of consultation and awareness. The blood disorder of thalassemia occurs around the world and some of its sub-types are extremely lethal.

The deadly blood disorder
Thalassemia is a genetic disorder i.e. it is a disease which an individual inherits from parents. The number of red blood cells in the body is extremely low which is due to unavailability of the compound hemoglobin, that carries oxygen in the fluids. The mutation in the genetic material i.e. the DNA causes disruption in the normal production of the blood cells leading to anemia. There are several types of thalassemia depending on the number of the mutated genes one receives from one’s parents and it is also proportional to the severity of the disease. The symptoms appear at a very early age.
The hemoglobin molecule is made up of two chains i.e. alpha and beta-globin, both of which can be affected by mutations. If there is one alpha gene missing than the person is a silent carrier and the increased number of missing genes corresponds to the extremity of this disorder. The most extreme cases are: Hydrops fetalis relating to mutation of alpha chains, Beta thalassemia major and Cooley’s anemia relating to mutations in beta chains. The symptoms are decreased blood production, growth of various organs such as the spleen, abnormalities of bones, and growth issues. The only treatment of severe cases is blood transfusions with medications. Some have frequent transfusions in a month especially those exhibiting severe symptoms, and some may have transfusions once in a while.

Addressing Thalassemia in Pakistan
As mentioned in the beginning, I got to experience the environment at a thalassemia center and noted some important points regarding the occurrence of this disease in this region of the world. One of the main reasons why the incidence is higher is because of cousin marriages. These marriages have been a tradition for a very long time and seemingly there aren’t any problems with it as such. But in certain areas, there are families that have genes for deadly disorders like thalassemia. The establishment of a relationship between such individuals may result in a doomed household. According to my observation, most of the patients had the disease in their family and certain couples had all their kids affected because both parents were the carriers of this disease. This shows that lack of awareness and education leads to a terrible situation.
For longtime survival it is necessary that it is addressed at the very beginning and treatment should be started after immediate diagnosis. Pakistan Thalassemia Welfare Society was developed by experts and qualified doctors from around the country in this regard. It is under the direct management of the Ministry of Health, Government of Pakistan. There has been the establishment of different centers for blood transfusion, most of which aim to offer treatment for free or subsidized rates. The Society is also a recognized member of Thalassemia International Federation, Cyprus and keeps itself updated about the latest and ongoing research in this mentioned health sector. Pakistan Thalassemia Welfare Society is also registered with the Pakistan Science Foundation and works with the help of donations and funds from their members and other philanthropists throughout the country. It also works to raise awareness about the disease and provide counseling to the people. Every month, different donors from colleges, universities, Pakistan Red Crescent Society, and the Armed Forces Institute of Transfusion help to provide required blood to patients.

These days not only the government has started to take steps to address the issue, but private groups are also diving in to provide their help and support. Many transfusion centers have been established across the country as mentioned and some of them do more than just providing blood. They also provide counseling to families of affected individuals and assist in marriages by genetic testing. Many programs have been introduced to make the people more aware of the ways through which they can combat this issue and save the lives of their families. In many cases, counseling encourages people to seek proper guidance for their future decisions and to avoid troublesome circumstances.
Issues during treatment
There are various issues that patients may face while seeking treatment. The most common is the lack of availability of blood. Often, patients are not able to find donors at blood transfusion centers and they must undergo a great deal of trouble to get one. This especially happens during the months of summer when the most generous blood donor group i.e. the students is not available. There are also many side effects of the treatment such as the buildup of iron in body fluids after repeated transfusions which is dangerous in high amounts to the vital organs of the body like the heart, liver, etc. Again, therapies and medications are required to lower and stabilize iron concentrations.
There are various ongoing efforts that address to control this disease and provide support to the patients. Not only do such individuals need medical support but they also require emotional assistance. Their lifespan depends on the quality of treatment and the severity of the disease. In the West, many thalassemia patients have lived a long life but unfortunately, in Pakistan, the lifespan of such beings isn’t very extended and there is a need to put in more effort at research and medical level to develop efficient therapies and treatments.
*Note: Names have been changed to main confidentiality.

Maham Maqsood is the Managing Editor at Scientia Pakistan. She has done her Bachelors from Quaid-i-Azam University in Biochemistry. An avid reader and a freelance writer, Maham has worked for several organizations including Globalizon and MIT Technology Review Pakistan.
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