A deadly disease

The world commemorates Thalassaemia Day in the first week of May. Since this disease can be fatal, is extremely painful and requires costly treatment, much is done to try to prevent and/or eradicate it.

In Sindh, thanks to the untiring efforts of my dear friend, Senator Abdul Haseeb Khan and others, the government has passed legislation to control its spread. Similarly, thanks to the efforts of Shaikh Allauddin, MPA Punjab, a resolution was adopted by the Punjab Assembly on September 3, 2012 which made it mandatory for prospective brides and grooms to produce certificates of thalassaemia testing. This has gone a long way in prevention. Dr M Naveed Tahir is the coordinator of this programme in Punjab. However, due to first cousin marriages, and marriages within families and community members, the disease is still spreading in Pakistan.

A number of welfare organisations have approached the problem on a war footing. I have been associated with thalassaemia awareness campaigns since 1992 when my dear friends Gen Faheem A Khan and Gen Riaz A Chowhan (both former surgeon generals of the Pakistan Army), Gen M Saleem, Gen C M Anwar and many other senior doctors set up the first Thalassaemia Centre in Rawalpindi where blood transfusions and iron control treatments were carried out.

A considerable amount of literature on the subject is available internationally and locally, a brief summary of which is given below.

The term ‘thalassaemia’ is derived from the Greek word ‘thalassa’ (sea) because of its prevalence in the Mediterranean region. Also known as ‘Mediterranean Anaemia’, it is an inherited blood disorder causing the absence or reduced production of haemoglobin, a protein in the red blood cells responsible for carrying oxygen through the body. Each red blood cell may contain as many as 300 million molecules of haemoglobin, each with two sub-units known as Alpha and Beta. Both sub-units are necessary in order to bind oxygen and deliver it to cells and tissues in the body. The lack of a particular sub-unit determines the type of thalassaemia that results (i.e. Alpha or Beta).

There are many forms of thalassaemia, with different sub-types. Both Alpha and Beta forms include Thalassaemia Major and Thalassaemia Minor. A defective gene inherited from both parents results in Thalassaemia Major, while a defective gene inherited from only one parent results in Thalassaemia Minor. People with the latter form of the disease are usually symptom free, but will pass on the disease to their children. Thus, a family history of the disease greatly increases the risk factor for future generations.

Foetuses with the most severe form of Alpha Thalassaemia are stillborn, whereas babies carried to term and born with the disease appear normal but develop severe anaemia during the first year of life. Other symptoms may include bone deformation of the face, failure to grow normally, fatigue, shortness of breath and jaundiced (yellow) skin.

From a quality of life point of view, treatment is the most important aspect of the disease. It is painful and costly. It requires regular blood transfusions and folate supplements. These are vitamin B substances that occur naturally in certain foods, while folic acid is the synthetic substitute. Those receiving regular transfusions also require chelaton treatment which removes excess iron from the body. Bone-marrow transplant is another form of treatment, especially in children. This is a very intricate procedure costing between Rs1.5 million and Rs2 million.

Severe thalassaemia can cause death between the ages of 20 and 30 but frequent transfusions and chelaton treatment help improve life expectancy. If the excess iron is not removed from the body, this could lead to damage to the heart, liver and endocrine system.

Public awareness and motivation are the key factors to prevention. People need to be informed of the risks and strongly encouraged (preferably compelled) to seek screening and counselling. A thalassaemia patient should not marry another patient or someone who carries the gene for the disease. If family/cultural compulsions, like first cousin marriages, encourage them to do so, they should opt for pre-natal screening within the first three months of pregnancy.

If the child being carried has the disease, it is advisable – and permitted by religion – to opt for termination of the pregnancy. This is the only way to eradicate this life-threatening disease, as has been adequately proven in Italy, Greece, Cyprus and other countries.

In Pakistan nearly 8,000 children are born with thalassaemia every year and about nine million people suffer from it. KP has the highest rate of infection due to first cousin marriages. It is of great importance that further spread is prevented by pre-marital and/or pre-natal screening. This will save many children from the severe agony this disease and its treatment causes.

Noted physician, Prof Dr Aslam Khan has been striving for the prevention and eradication of thalassaemia for decades. He has written many invaluable articles on the subject. Dr Shahid Hussain, Dr Muzaffar Ali, Dr Tahira Zafar, Dr Shahina Jamil and many others have been very active in this field. My dear friend, Dr A Rashid Seyal from Multan recently published an excellent paper in the ‘Proceedings of the Pakistan Academy of Sciences’, giving many practical examples. I have written three columns on thalassaemia in the past (May 21, June 4 and June 25, 2012) highlighting the importance of prevention and treatment.

The well-known Kashif Iqbal Thalassaemia Centre (KITC) in Karachi is celebrating International Thalassaemia Day on April 24, to which I have the honour of having been invited as chief guest. M Iqbal is the chairman of the centre and Kashif Mulla is the spirit behind all the efforts. Many well-known industrialists and philanthropists of Karachi – S M Munir, Sardar Yasin Malik, Senator A Haseeb Khan, Mehtabuddin Chowla, Mian Zahid Hussain, Khalid Tawwab, and many others – actively support this noble cause. The KITC provides humanitarian services to affectees.

My dear friend and former federal minister, Haji Haneef Tayyab’s organisation, Al-Mustafa Trust Society, also provides treatment to thalassaemia patients. Dr Saqib Hussain Ansari and his organisation, Umair Sana Foundation, is also very active in this field. Dr Saqib is an experienced medical doctor. In Islamabad and Rawalpindi the Thalassaemia Welfare Society and Thalassaemia Awareness and Prevention Pakistan are providing excellent services in aid of this noble cause. Our well-known property developer and philanthropist, Malik Riaz Hussain, provides free transfusion and dialysis services at Bahria Hospital. My dear friend, Dr A Rashid Seyal of Seyal Medical Centre, Kutchery Road, Multan provides treatment and advice and conducts research. Through the efforts of all these organisations, a large number of people can now lead normal lives.

My earnest request to all concerned is to have pre-marital screening done. Parents should have their teenage children tested and it should be mandatory to have such testing done before any nikkah ceremony. This is to save your children from the mental agony of having affected children and to save future generations from a lot of suffering, not even to talk of the expenses involved.

Email: dr.a.quadeer.khan@gmail.com