“I have seen broken marriages, deserted children and family feuds just because of this one disease,” says Dr Haroon Memon. He has been treating thalassemia patients for years in interior Sindh and is thoroughly aware of the devastation the disease has and can cause.
Working at the Thalassemia Care Centre in Badin, Dr Memon heads the facility where patients flock from eight districts of the province for a cure. The centre was built under the US Agency for International Development’s (USAID) District Grants Programme in 2005 and now functions with the help of Badin’s district government.
Victims of the inherited blood disorder — that results in severe blood shortage — suffer from an increase of iron in their bodies, diabetes and other major side effects. In the rural parts of the country where poverty, lack of resources and illiteracy result in the late or no diagnosis of the disorder, the social implications become more prominent than the physical ones. Pakistan is counted among those less-developed countries where thalassemia patients are multiplying at a very fast rate. Although no proper research has been done in the country, experts say almost seven per 100 people are carriers, known as thalassemia minors. The carriers are normal themselves but have the potential to transmit it to the next generation causing thalassemia major.
When two carriers reproduce, there are 25 per cent chances that the child will be normal, 25 per cent chances that he or she will have thalassemia major and 50 per cent chances that the child will also be a carrier, says Dr Memon. Therefore a large proportion of thalassemia patients are children.
There is growing concern that thalassemia may become a very serious problem in the next 50 years – one that will burden the world’s blood bank supplies and the health system in general.
With the requirement of a bottle of blood almost every few days, the life of a thalassemia patient is like that of a car, one whose engine runs on fuel, explains Dr Memon. In such a scenario, prevention not cure is what needs to be done to fight the genetically transmitted disease.
In Sindh, most people suffer from beta thalassemia, which is one of the most familiar types. It involves decreased production of normal adult haemoglobin (Hb A), which is the predominant type of haemoglobin.
(All haemoglobin consists of two parts: heme and globin). The globin part of Hb A has four protein sections called polypeptide chains.
Two of these chains are identical and are designated as the alpha chains. The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. In people with beta thalassemia, there is a reduced or absent production of beta globin chains.
Dr Memon says that there are patients at his centre who, because of continuous blood transfusions, have developed a concentration of iron in different parts of the body and have to be treated for that. The iron concentrates in the heart, pancreas, liver, spleen and the endocrine glands, he adds.
Such children show signs of a ballooned stomach, broader forehead and jaw bones and prominently bad teeth.
Our job is to maintain the haemoglobin level of the thalassemia patients at 10.5 grams, to control the iron concentration in different parts of the body and to counsel the parents, says Dr Memon.
Law in the making
Concerned doctors are lobbying for a law to be passed for the identification of carriers in the province, informs Dr Saqib Ansari, a haematologist at the National Institute of Blood Diseases (NIBD). “In the year 2010, close to the World Thalassemia Day (May 8), the Sindh Assembly adopted a resolution to make the thalassemia test a pre-condition for nikah, but it could never be formed into a bill,” he says. Dr Ansari claims that this will successfully reduce the danger of thalassemia transmission without stigmatising women.
Meanwhile, Dr Ansari also says that a fatwa has been taken that allows a child with thalassemia major can be aborted before the 16th week.
The government needs to realise that apart from human suffering, supporting thalassemia patients is a huge financial cost, he says. “The disease needs to be controlled before the numbers shoot up.”
When five-year-old Affifa goes to school she carries more than the burden of books on her shoulders. “My daughter was diagnosed with Thalassaemia, a blood disorder, at the age of three,” says Wajahat Ayaz, who works as an engineer at a leading power company in Karachi.
Affifa’s problems are compounded not only by the fact that her body generates an abnormal form of haemoglobin cells, but also by her rare blood group, known as the Bombay blood type. According to Dr Saqib H Ansari, chief of the Thalassaemia programme at the National Institute of Blood Diseases, there are only seven known donors in the country who share this blood group. “Patients like Affifa survive on blood transfusions, but it becomes a huge problem when one has a rare blood group because one can’t find matching donors,” Ansari says.
However, the little girl is lucky for now. Nuzhat, a woman of 40, is providing crucial life support for Affifa. “I will donate my blood to her as long as I live,” says Nuzhat. But what will happen after that?
Ayaz, who earns around Rs30,000 a month and spends close to Rs10,000 of that on monthly treatments for his daughter, says he can only pray that a miracle like Nuzhat will be around. However, that’s not the issue which torments him each day.
“If only I knew that we, the parents, would be the cause of her illness,” laments Ayaz, without saying anything about what he would have done had he known this fact beforehand.
Thalassaemia is a genetic blood disorder which a child inherits from their parents. “If both parents are Thalassaemia minor — that is, they carry the disease but it is not active in their system — there is a 25 per cent chance that their child will be a Thalassaemia major — an active patient –a 50 per cent chance that she will be a Thalassaemia minor and a 25 per cent chance that everything will be normal,” says Ayesha Mehmood, the spokesperson for the Fight Against Thalassaemia (FAiTh). Also, if a Thalassaemia minor’s partner is normal, their children, in all likelihood, will be born free of the disorder.
Ayaz supports recent initiatives taken in certain provincial assemblies regarding the nikahnama law that advocates testing for blood disorders like Thalassaemia, Hepatitis C and HIV/AIDS in couples before they marry. He suggests the government should make it mandatory to mention blood types on national identity cards so that potential donors can be identified.
But so far the Khyber Pakhtunkhwa provincial assembly is the only legislative body which has passed a bill making it mandatory for couples to carry out Thalassaemia and Hepatitis C tests before the marriage takes place. The law does not ban couples from getting married if they find out they are both, for example, Thalassaemia minor carriers, but it gives them the advantage of knowing what they’re getting into. Meanwhile, the Sindh Assembly has to date only passed a resolution urging the federal government to consider making such tests compulsory.
On July 08, 2010, the Punjab government’s Local Government and Community Development Department proposed eight amendments to the nikahnama law; these included complete medical check-up reports prior to marriage. However, the amendments were criticised because of the caveat that the nikahnama document must also be signed by the parents of the consenting adults and were consequently withdrawn.
Member of the National Assembly Sherry Rehman has strongly criticised the Punjab government’s move. Rehman fears the measure might increase the number of forced marriages in the country. “Having parents sign the nikahnama would have meant the return of the wali system for women. The Lahore High Court has a ruling against it,” she says. She added, however, that she was all for testing couples for disorders before marriage and would strongly advocate such a bill.
Meanwhile, Masood Alam, who is about to get married this year, voices another concern. He says that even if blood testing before marriage becomes federal law, it would be hard to convince families that it is a healthy measure. “I and my fiancée may agree, but our families might not want us to get tested because of social pressure and superstition,” Alam says.
Even Nuzhat, Affifa’s donor, says that girls in Pakistan already face a lot of problems getting married and the proposed changes to the nikahnama law may become an added hurdle.
Dr Ansari proposes a solution. “We can follow the Iran model, where the man is asked to get tested first,” he says, adding that the woman only need be tested if the man is found to be suffering from, for example, Thalassaemia minor.
Also, families can be convinced about the benefits of testing with a little persuasion, says Shahzad Shah, who married in 2009 and got himself and his fiancée tested before marriage. “After we told our families about the advantages, they themselves took us to get our blood tests done,” Shah says. He adds that today he is a proud father and his daughter has no genetic blood disorder.
Religious scholars say that while conducting blood tests is not a necessity before marriage, according to Shariah law there is no harm in doing so. Darul Uloom Karachi’s Mufti Asghar Rabbani and Jafferia Alliance’s Maulana Sheikh Hasan Salahuddin say tests can help identify problems that an unborn child might face, because in the end, the child has to suffer the consequences.
Thalaessaemia patients can’t die prematurely just because they don’t have drugs. There are other factors to consider as well”.
So says Dr R. Mudiyanse, Consultant Paediatrician and lecturer at the University of Peradeniya.
In a frank interview with The Nation, Dr Mudiyanse, who admits that he himself is a thalaessaemia carrier said, “To say that temporary drug shortages can kill a thalassaemia patient is an emotional and irresponsible statement. You need to understand all sides of this disease, to make a fair judgement. Let me explain why these patients need drugs. The reason is that regular blood transfusions are essential for thalassemia patients, because unlike in normal persons where the red cells live upto 120 days, the red cells in thalessaemia patients are broken down in a much shorter time. Then they become anaemic, and so need blood transfusions. Those with severe thalassemia need to have blood transfusions every month, for life. With each pint of blood given them, there is iron accumulation. This is because blood in our body contains a great deal of iron. This iron when accumulated over a long period can become toxic to the body as it releases electrons that can damage cell membranes in the body. In the heart it can cause heart failure, in the pancreas it can lead to diabetes, in the liver result in cirrhosis, the pituitary glands resulting in stunting, in the gonads (ovary) it can prevent them from attaining maturity. It is to avoid these complications that they need iron removal drugs.”
What are these drugs? Are they available in the hospitals?
“There are 3 types of drugs which we give our patients. One is an injection taken once a day and which requires a 12 hour infusion. The other two are tablets, taken 3 times a day and once a day respectively. Whatever the iron that is accumulating in their cells due to a blood transfusion can be removed only by taking these drugs for 25 days every month. This has to be repeated each month after every blood transfusion.”
So if they don’t have the drugs will it shorten their lifespan?
“Patients can’t die overnight just because they don’t have a certain drug. Iron accumulation in the cells is a long process. But if they fail to take the drugs or have a blood transfusion on a long-term period, it can lead to premature death”.
He reiterated that for patients to lead a full life they required to take their blood transfusions and drugs on a regular basis. “If they take their blood transfusions regularly they can live upto 20 years, even without drugs. But our patients don’t do this. That is why most patients in Sri Lanka die before 20 years. Of course, it is not easy to have a blood transfusion every month, but they must comply with this requirement. So non-compliance to this basic requirement is the main cause for them dying prematurely”.
And patients who did comply with these requirements?
“They can live upto 50 or 60 years and above and lead normal lives, get married, become lawyers, engineers, doctors etc”.
He admitted, however, that administration of sub quality drugs for a long period could have adverse effects and lead to early death.
Currently Sri Lanka has an estimated 4% population with thalassemia. There are around 100 new patients born every month and an estimated 2,000 patients every year.
Each year the state is required to spend between 100,000 to 300,000 on a patient. This puts an unbearable burden on the government as all the drugs and transfusions are given free. What is important thus is prevention of the disease – through education and awareness raising”, he stressed.
Dismissing the popular belief that consanguinity or first cousin marriages are the underlying cause, he said, “While consanguinity is a risk factor for having thalassaemia babies, it is not the only cause. The main cause is conception between two carriers, which carries a high risk for resulting in them having a thalassaemia baby. So conception between two carriers (i.e. where the mother and father are both carriers) must be avoided at all costs. If a person knows he is a carrier, and wants to get married, he should get his future spouse to be tested to see if he/she is a carrier or not. If, on the other hand, you are not a carrier, then you needn’t worry about checking to see if your prospective bride or bridegroom is a carrier, as both should be carriers to produce a thalassaemia baby.”
However, he also pointed out, “In a conception between two carriers usually only about 25% of babies get thalassaemia. According to our statistics, we can assume that every year, we have about 400 conceptions between two carriers resulting in around a 100 births of thalassaemia babies. Hence we can assume there are about 200 such high risk marriages between two carriers happening every year. This is the group we should target so as to prevent these marriages taking place. And for this, I reiterate, testing the blood of your future partner is important if you are a carrier, to rule out that the latter is not a carrier as well”.
Do you recommend that testing be mandatory?
No. It has to be a responsible decision. My message is: “If you are a carrier then don’t take the risk of marrying another carrier. The only way to know this is by getting your would be partners for life tested before marriage”.
The Nation also spoke to Professor Priyani Soysa, Consultant Paediatrician, who was among the pioneers to have raised awareness on Thalassaemia in the late 50’s while working at the Kurunegala hospital. “It was the late Professor C.C. de Silva who observed the disease in the 1940’s. Then when I had many babies and older patients coming to the hospital for treatment, I began an awareness raising programme, to discourage consanguinity which I found was one of the leading causes for the disease
Not all first cousins marriages result in thalassaemica babies. But those who have minor thalaessemia which is a recessive disorder can result in major disorder when blood cousins marry.”
She too says that testing should not be mandatory as it will be infringing on Human Rights.
“On the other hand, people must be made aware and educated on the disease, so that one carrier will not marry another carrier of the disease”.
UAE Genetic Diseases Association (UAEGDA), the sole non-profit genetic organization in the UAE, recently announced that they are on track to achieve their “UAE Free from Thalassemia 2012” initiative, saying that the target looks quite achievable to eliminate births of children born with the genetic blood disease within the next two years.
Offering free and confidential testing and in association with National Bonds Corporation PJSC, the organisation held a blood screening drive earlier this week for its employees to screen them for the most commonly inherited blood genetic disorders—including as Beta Thalassemia, sickle cell anaemia, G6PD deficiency and Diabetes Mellitus—in support of UAEGDA’s national health campaign.
Regularly organized screening drives help to increase an individual’s awareness on the health risks posed by genetic blood disorders, which can be passed from one generation to the other. The process begins by registering online at the UAEGDA website. Bar-coded labels are then printed and placed on the individuals testing tubes after which the sample of blood is processed in the UAEGDA laboratory. The results are then sent directly to the individual’s email with all the details being handled solely between the client and the organization.
Dr. Maryam Matar, Founder & Chairman of UAEGDA, says that genetic blood diseases like thalassemia are highly prevalent in the UAE but can be addressed with a simple and inexpensive blood test as a primary solution in helping to reduce the presence of hereditary diseases in the country.
“We are confident that with the rapid increase in the activities of our organization and with all the awareness events organized by UAEGDA across the country, we can make the UAE free of thalassemia by 2012,” adds Dr. Matar.
As one of UAEGDA’s leading partners, National Bonds Corporation PJSC takes responsibility towards its employees seriously and is working in association with UAEGDA to support the government’s campaign to eradicate thalassemia in the country by 2012.
“We are committed to stepping up the fight against thalassemia and working towards the health of the nation, both in terms of physical and financial wellbeing,” comments Mr. Mohammed Qasim Al Ali, CEO of National Bonds Corporation PJSC.
“By offering our employees UAEGDA’s free and confidential voluntary tests, we can ensure their own wellbeing as well as that of future generations.”
The UAE Genetic Diseases Association has been able to considerably reduce the impact of common genetic disorders prevalent in the country through its community outreach programs, health education, counseling and free screening tests. They also have a free genetic clinic equipped with a state-of-the-art screening facility supervised by internationally renowned experts.
For over four years, Fight Against Thalassemia (FAiTh) has been trying to convey a simple message across to the government: to pass and implement a Pre-Marital Mandatory Tests Bill in the country. This is a simple request for a simple bill and a simple solution to highly complex problems that our society faces today.
Even though right now there are no government-based Thalassemia treatment centers, this situation will improve soon as there will soon be as many as seven Thalassemia treatment centers run by the Government of Pakistan. The exact date of when these centers will be setup however, only two G’s know: God, and Government.
FAiTh has attempted to utilize a myriad of media: from print to web-based, from television to spreading awareness on its own through the help of media owners. While FAiTh was busy with awareness campaigns, the Khyber-Pakhtunkhwa assembly sent us a shocking, yet pleasant surprise: they passed the Pre-Marital Mandatory Tests Bill.
This was a cause for celebration! However, this overwhelming joy was quickly swept over by another question: When a conservative province like the Khyber-Pakhtunkhwa is progressive enough to pass the bill, why are the other provinces so reluctant?
The North West is a place where the men do not want anyone to see their female counter-parts. I salute them for passing the bill and giving other provinces what we call, “ghairat ka dose.”
And, just after a few short days, the Sindh Assembly gathered all of its courage, and passed the resolution as well! What a brilliant milestone!
This is all great! However, what the Punjab Assembly did comes as a big slap across the metaphorical faces of all the other Provincial Assemblies. I understand that I am going to be opposed with many objections after this post. Even as I wrote this, I came up with several queries myself, such as it will be an invasion of privacy or that more problems will be caused for girls and aged women who are still awaiting their match.
I am supporting this bill because of the medical check-up made necessary. This can surely help to put a full stop to the birth of 5,000 Thalassemic children every year. It is not the children, that shouldn’t be born. It is Thalassemia. I have mentioned in my earlier posts as well, that I am representing Thalassemia patients of Pakistan. I am their ambassador, and I speak for them when I assert that they will be happy with this new law.
Now, the National Assembly needs to get some ‘ghairat‘ and do their part: implement the law countrywide!
Muscat: A larger percentage of Oman’s population suffers from one or the other blood disorder, prompting health authorities in the country to consider pre-marital blood tests to bring down the number of such cases.
“About 58 per cent of citizens carry at least one of the blood disorders genes,” Dr Salam Al Kindi, SQU Head of Haematology, said at a press conference held at the Crown Plaza Muscat on Monday.
He pointed out that 47 per cent of the Omanis suffer from alpha Thalassemia gene, 5.5 per cent have sickle cell disease, and 2.62 have beta Thalassemia gene and 1.6 per cent have other haemoglobin variants.
“Now, Oman Hereditary Blood Disorder Association (OHBDA), together with the government, is slowly trying to introduce the aspect of pre-marital blood tests in the country,” says Dr Al Kindi.
“Up to 160 babies per year in Oman are born with sickle cell disease while 15 are born with Thalassemia, which proves the severity of this problem,” stressed Thuraya Bint Saif Bin Sultan Al Hosni, OHBDA Vice-president.
“One of the association’s main aim is to encourage pre-marriage genetic screening to reduce the number of new babies afflicted with these life threatening and terrible diseases,” she pointed out.
Sickle cell disease patients go through very severe pain attacks, chest infections and bone necroses, frequently needing hospitalisation to receive pain killers and other medications, which puts strain on the patient and their families.
Thalassemia patients require monthly blood transfusions and can face problems with their heart, lungs and spleen, which in many cases can prove fatal. Frequent attacks put patients and their families into stages of depression and sometimes lead to loose their work and quit schools.
“We do not discourage marriages, but we need people to go for pre-marital blood tests,” suggested Dr Al Kindi.
He said that it was only a single blood test that would reveal all diseases.