If effective steps are not taken immediately, thalassemia will be added to the long list of deadly diseases that threaten Pakistan’s young generation

ONCE thalassemia was seen as a problem of Mediterranean populations. However, today the disease is largely a problem of developing countries. It remains the most common inherited disorder in Pakistan with a carrier prevalence of four to six per cent.

PROBLEMS IN DEVELOPING COUNTRIES: Who figures suggest that each year approximately 60,000 to 70,000 cases of B-thalassemia major or Haemoglobin E and B-thalassemia are born worldwide, most of them in Asia. For our country the figure is about 6,000-8,000 births a year. Some 50,000-100,000 thalassemia major cases are present at a given time.

Like many other disorders, thalassemia has emerged as a public health problem in developing countries that have many things in common: mega-population, weak economy, political instability, regional conflicts, high level of poverty and illiteracy have compounded the health problems. Primary healthcare exists but is largely ineffective.

But without improving the socio-economic status of the countries it is unlikely that any national eradication programme could be implemented successfully. Under such circumstances healthcare personnel, and the community in particular can play a very significant role in combating thalassemia in resource constrained countries.

IS PREVENTION POSSIBLE?: Thalassemia is a disorder from which prevention is easy, permanent and inexpensive. Anyone who is once tested and found negative for the gene (carrier status) is sure to remain so throughout life. So it is important to identify the carriers and provide them with effective genetic counselling to minimize the propagation of the disorder. Also pre-natal diagnosis has made it possible to identify thalassemia major babies at about 10th week of pregnancy and to terminate the pregnancy if fetus is found to have thalassemia major.

INHERITANCE: The major disease, in greater than 99 per cent of the cases is seen, when mother and father, both, have thalassemia minor (carriers). Carrier couples have one in four and two in four chance, in every pregnancy, of having a child with major and minor thalassemia, respectively. If one of the parents is carrier, there is 50 per cent chance of having a thalassemia minor baby in each pregnancy.

The disease, therefore runs in families and “brotheries”, as cousin marriages are common in our part of the world and the fact that carriers remain unidentified because of asymptomatic nature of thalassemia minor.

TREATMENT COST: The only cure for thalassemia major is blood and marrow transplantation (BMT) with a success rate of 60-90 per cent. In Pakistan, the facility is available in two centres only. The cost involved is around $15,000 to $20,000. In India there are 14 transplant centres and cost is about $10,000 for locals.

In most of the developing countries majority of the affected families cannot afford the expenses involved on BMT. The mainstay of treatment, therefore, remains regular blood transfusion and iron chelation. Blood transfusion services in developing countries are highly ineffective. Majority of the children remain under-transfused and poorly chelated. The estimated average cost of an ideal supportive management for first 10 years of a life is about $12,000 to $15,000. However, because of ineffective and expensive nature of services, most children die at the age of eight to 10 years.

PREVENTION IN RESOURCE-CONSTRAINED COUNTRIES: The treatment of thalassemia without an attempt to control the number of patients born with its major and minor form will result in an unavoidable drain on the family and national economy. In this regard healthcare personnel, community and government need to work together. In developing countries this is not a common feature and desired results are not usually achieved. It is important that each of us play his/her role and most important role is to be played by the elders of a family.

ROLE OF PARENTS/ GUARDIANS: Thalassemia runs in families as carriers appear asymptomatic and are responsible for propagating the disease silently. Like good schooling and good food, child health is an important responsibility of parents. It may be unwise to wait for government supported preventive programmes, as prevention is not a costly affair and is not cumbersome too. You can save your children and family from thalassemia:

* Get your children tested for thalassemia: CP/CBC test. This test costs Rs100-150 and is available at numerous laboratories. Confirmatory tests (Hb-electrophoresis or Hb-A2 estimation by column) is performed on doubtful cases and this test cost Rs500.

* It is important that these tests are done from a standard laboratory and the results must be shown to a Haematologist.

* Get alert, if your child is confirmed to have thalassemia minor. Make sure that you do not marry your son/daughter to a carrier. If you do, then your children are the likely parents of thalassemia major babies. It is on this basis that inter-family marriages are discouraged. It is therefore of utmost importance that the tests are carried out in the childhood and adolescence.

* As thalassemia minor is a silent disorder, it is necessary that the couples of re-productive age get themselves tested for it. This test becomes essential for those couples having history of thalassemia in the family. It is essential also for husbands whose wives are found to be carriers during aneatal visits.

* If the couple is found to be carrier, then they should go for prenatal diagnosis so as to avoid the birth of a thalassemia major baby. The test done for this purpose is called chronic villous sampling (CVS) and is done on pregnant women at 9-10 week of pregnancy. This is not a painful test and is done on out-patient basis without general anaesthesia. This is a safe procedure for both mother and child. This test gives 99 per cent correct result.

Facilities in Pakistan are available at AKUH and PN Shifa in Karachi, Genetech Lab in Lahore and Dr Nadra in Rawalpindi. Here it costs about Rs5000 to Rs15000. It must be borne in mind that this test has to be done on every subsequent pregnancy. If the fetus is confirmed to have thalassemia major, it is important to terminate the pregnancy. Medical science recommends this and our religion also favours it if it is done by 16th week of pregnancy.

* Lastly, It is important that affected families in particular and other families in general keep a small family. Higher birth rate in countries like ours means more affected births (major and minor). I would suggest that affected families should stick to two healthy (non-thalassemia major) children. This is important if thalassemia is to be eradicated from developing countries with mega population.

NGOS/CBOS/HEMATOLOGY CENTRES: In Pakistan thalassemia is exclusively looked after by NGO’s and CBO’s that provide treatment to thousands of patients with thalassemia and allied disorders. However, these organizations are indirectly responsible for disease propagation as they did not concentrate on disease prevention at all. Any national strategy/plan to screen every citizen or youth or all the school going children would be a very costly affair.

As in Cyprus, mandatory screening before marriage would not be an affective approach in developing countries because of high level of illiteracy and numerous social stigmas. Since thalassemia runs in families, a practical and cost effective starting point would be to screen the targeted population in the community:

* To screen every sibling of the effected (thalassemia major) child for carrier status at the time of registration.

* To screen the cousins, uncles and aunts (of reproductive age) of the effected child.

* To convince upon them not to do marriages among the carriers (genetic counselling).

* To work together to develop and strengthen national plans and protocols for thalassemia prevention and eradication.

 

CONSULTANTS, GPS AND JUNIOR DOCTORS:

* The tendency to ask for only Hb should be stopped. Doctors, particularly obstetricians, gynaecologist, surgeons, paediatricians and general physicians should ask for CP/CBC without which thalassemia minor can not be diagnosed.

* Every doctor needs to be well versed with the interpretation of basic thalassemia screening test: CP / CBC I. Doubtful cases, Hb-electrophoresis should be done to rule out thalassemia minor.

* Anaemia, if it is not symptomatic and if there is no surgical emergency, should be investigated completely and properly.

* Every women should be screened for carrier status at antenatal visits. Husbands should be tested if wife is found to be a carrier.

LADY HEALTH WORKERS IN RURAL AREAS: There has been a lot of awareness about thalassemia in major cities. In rural areas situation is entirely different where 65 per cent of our people live. Seventy thousand to 100,000 lady health workers (LHW) working under MOH provide advice to families in rural areas on safe motherhood, malnutrition, child spacing, vaccination and common communicable diseases. It is important that thalassemia prevention be incorporated in National Programme for Family Planning & Primary Health Care so that the network of LHW can be utilized to disseminate information about this preventable disorder.

LHW would need to educate the families about mode of inheritance, carrier screening, inter-family marriages, preventive counselling, small family size and prenatal diagnosis.

This would be a very cost effective approach to educate the rural masses.

 

ROLE OF INSTITUTIONAL HEADS/HOSPITAL DIRECTORS:

* Create facility for chronic villous sampling in major public hospitals. Maybe one in each province would suffice initially.

* Standardize laboratory services with availability of thalassemia screening and confirmatory tests in all teaching Hospitals.

POLITICAL, RELIGIOUS AND COMMUNITY LEADERSHIP: In developing countries with low literacy rate, political leaders, religious scholars and various community heads are like “gods and goddess”. They can be very effective in motivating the masses, Philanthropists and media about disease prevention. Also they can utilize their high profile presence to pursue the officials to initiate national programmes for thalassemia prevention and eradication.

 

ROLE OF GOVERNMENT:

* Poverty alleviation plans to be strengthened because almost 60-90 per cent thalassemics belong to poor socio-economic status and most are from rural/sub-urban area.

* Ministries of Health, Education and Social/Women welfare need to work together. As a first step they should use electronic and print media to educate masses about disease prevention.

* International funding should be sought to raise national plans and protocols.

* Technical assistance should sought from Thalassemia International Federation (TIF).

Dissemination of information to the community is the most important and cost effective way in preventive strategies. Hundreds and thousands people get motivated and take steps for disease prevention and eradication at individual and community level. Meanwhile it is important that thalassemia is incorporated in national health plans and preventive programmes are initiated at national level.