The battle against thalassaemia

Thalassaemia is the most common congenital disorder in the world including Bangladesh. Parents who carry the abnormal gene pass it to their children. Hb E beta carriers are healthy and beta thalassaemia carriers are also normal except that some of them mildly anaemic.

The carrier status of beta thalassaemia trait in our population is 4.1% and of Hb E trait is 6.1%. The expected births of beta thalassaemia major infants annually are about 1040 and Hb E beta thalasaemia are about 6443.

This number is insignificant in contrast to the number of patients of other diseases like diarrhoea, acute respiratory infections etc. But those diseases are not life time diseases. Here children get sick, get treatment, are cured and few may die.

The infant mortality of infectious diseases has drastically fallen due to targeted programmes of vaccination, better nutrition and better health care facilities.

Treatment of thalassaemia is different from acute illnesses in that emphasis on maintaining health rather than “getting better and getting out”.

When thalassaemia is diagnosed in a child, s/he becomes a patient for his/her life time and therefore one patient becomes 12 as these patients have to come to a hospital or a thalassemia center for blood transfusion or for other complications every month.

Yearly about 7483 thalassaemic children are born which means at the end of one year the hospital has to attend 7483 x 12 = 89796 patients (as these patients have to come every month) although a few may die.

Even if 50% of these patients take blood every month, then the total number of blood utilised per year for patients born in one year is 44892 bags. The cost of these bags is 2 crore 44 lakhs 46 thousand. These exclude the cumulative numbers of thalassaemia patients of other years. It is estimated that 60% of our donated blood is required for thalassaemic patients.

Due to repeated transfusions, there is accumulation of iron in the body which is toxic causing damage to different organs in the body like liver, pituitary, heart etc. causing organ failure and ultimately leading to death. These iron needs to be removed and the cost of these iron removing drugs are very expensive. On average, Taka six to seven thousands are needed every month for iron chelation therapy. Then there is the cost of the pump to deliver Desferal (iron removing drug). The cost of the pump is taka 30,000.

However, good news is that there are some oral drugs coming in the market, although their efficacy is yet to determined. Using these drugs also needs regular investigations as in some patients there is adverse reactions. Moreover, these drugs are not inexpensive.

In many patients the spleen becomes very large and there is increased requirement of blood and therefore it needs to be removed. Before removing the spleen, meningococcal, pneumococcal and haemophilus vaccine have to be given and this along with operation expenses come to a minimum cost of Taka ten thousand even in a free bed. Again life long antibiotics are prescribed as these patients are prone to infection which could be very life threatening.

Apart from these expenses there is the need to hospitalise these patients every month for blood transfusions. The psychological trauma of the patients and parents of these thalassaemic children is tremendous.

Thalassaemia is very neglected problem in our country. The present government has reduced the tax on chelating drugs and there is some reduction of the price. The government should subsidise the costs of iron removing drugs and it should be sold in designated centers. Majority of our patients cannot afford to buy the drugs. Subsidising the costs of the drug may give a better quality of life to these patients.

It has been seen that thalassaemia patients die if there is no diagnosis and no treatment within 1-5 years. If only blood transfusion is given without any chelation therapy, the survival is 8-18 years. If regular transfusion to maintain Hb >10 gm/dl and maintaining serum ferritin level less than 1000mgm then near normal life is possible. Most of our patients die in their teens as they cannot afford to buy chelating drugs. We have some patients who are studying in universities and colleges but having very high level of ferritin and their future is bleak.

The best approach to minimise the problem of thalassaemia is to prevent the births of thalassaemic children since prevention has primary importance with obvious priority over treatment. There is no known cure other than bone marrow transplantation which is very expensive and success rate is 60% in even highly developed center. Prevention is possible, practically and successfully seen in many countries. Spending on preventive measures is much more cost effective than treatment.

Screening of the traits should be included in the primary health care as has been done in Iran. In a 3 year long study on 100,000 cases in Isfahan, Iran, after identification of carriers and genetic counselling provided to them, the average couples decided not to marry was 90% and no new cases of thalassaemia were detected in the children of screened population which is a remarkable achievement.

Most screening progra-mmes use an initial simple but sensitive test known as NESTROF (Naked Eye Single Tube Red cell Osmotic Fragility) for detecting Beta thalassaemia trait and DICP test (dichlorophenolindophenol) for detecting Hb E trait.

These tests has been found to be sensitive, cost effective and reliable screening test which can done in the upzilla level. It will cost taka ten only per head. Positive cases can be referred to centers where there are facilities for Haemoglobin electrophoresis. If a couple is positive, they should be sent to DNA for prenatal diagnosis. DNA lab has been set up in Bangabandhu Sheikh Mujib Medical University (BSMMU) where prenatal diagnosis is being done on amniotic fluid.

The government should focus their attention for prevention of genetic disorders like thalassaemia and also subsidise the cost of chealting drugs to give good quality of life to the surviving thalassaemic patients. Otherwise, thalassaemia will become a major health problem in the coming decades in Bangladesh.

The writer is a Professor of Bangladesh Institute of Child Health, Dhaka Shishu Hospital and President of Dhaka Shishu Hospital Thalassaemia Center. E-mail: [email protected]

Source: The Daily Star, December 20, 2008