Thalassaemia: common hereditary disease among Punjabis
Sumitra Dash
Thalassaemia is a genetic disease of the haemoglobin. It results in a reduced haemoglobin content in red blood cells leading to severe anaemia from early childhood. Children suffering from this disease are sustained with frequent blood transfusions maintaining their haemoglobin at a functional level.

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Thalassaemia: common hereditary disease among Punjabis
Sumitra Dash

Thalassaemia is a genetic disease of the haemoglobin. It results in a reduced haemoglobin content in red blood cells leading to severe anaemia from early childhood. Children suffering from this disease are sustained with frequent blood transfusions maintaining their haemoglobin at a functional level. With repeated blood transfusions, iron from the transfused blood gets deposited in the vital organs of the body, including the heart, liver, pancreas and other organs. Death usually occurs due to heart failure.

Removal of iron by drugs usually extends the life span into the third decade. An alternative to this traditional management is bone marrow transplantation from an HLA-matched donor which, in patients without any iron overload or iron mediated organ damage, result in a disease-free survival of about 90-95 per cent cases.

This genetic disease occurs due to a defect in the gene that controls normal haemoglobin synthesis. Every individual carries two sets of genes, one from each parent. When the gene from one set is defective it is called a carrier state (thalassaemia trait or thalassaemia minor). Since carriers have another gene from the other set which is normal, they do not suffer from the disease and are, therefore, considered normal in all aspects. However, when a child has a carrier mother and a carrier father, there is 25 per cent chance that he/she will get the defective gene from both parents (double dose). This child will thus suffer from a severe form of the disease, i.e. thalassaemia major.

The problem of thalassaemias and related disorders like haemoglobin variants is global with a very high incidence in the Mediterranean area, the Middle-East and the Indian sub-continent extending upto South-East Asia. There are around 25-30 million people carrying the thalassaemia gene in India. The prevalence is high in the northern, western and northeastern parts of India. It is estimated that 10,000 to 12,000 children with severe disease are born annually in this country.

Around 4 per cent Punjabi population carries the thalassaemia gene. The financial burden as well as the inconveniences the families of these patients have to suffer are massive. Without doubt it is a great social health problem.

Several programmes with the aim of preventing thalassaemia are on in different countries where populations are at risk for the disease. All these programmes have been characterised by intensive public awareness campaigns, carrier detection, genetic counselling and diagnosis of the unborn fetus (prenatal diagnosis). Public education to increase the awareness about the disease is conducted through mass media. Lectures are arranged for the public in bigger organisations such as factories, schools and colleges. Family doctors, pediatricians, obstetricians, midwives and nurses have been trained in this new field of preventive genetics. Posters and information pamphlets have been made available at marriage registry offices, general practitioners and family welfare clinics. Community-based parents’ associations and NGOs have played an invaluable role as an influential group by increasing the financial support for public education and providing assistance to patients and families. In Cyprus, the church has made a substantial contribution by requiring marriage candidates to produce a certificate stating that thalassaemia carrier testing has been done.

In preventive genetics a carrier detection procedure should be precise enough to avoid missing any couple at risk. Occasionally, a battery of tests may be necessary as several environmental or genetic factors may modify the test results.

A thalassaemia carrier state can be easily identified with an appropriate blood test. A simple and cheap screening procedure of separating haemoglobins by agarose electrophoresis developed by the author is being widely used in the country.

Who should get the test: The target people for screening are the parents who already have lost a child to this disease, couples intending marriage, preconception or early pregnancy. in high risk countries such as Cyprus and Sardinia screening of secondary school students has been introduced recently. Adequate facilities for screening and information about the risks involved strengthen the efficacy of the screening process. In Sardinia, approximately 90 per cent of the couples at risk could be predicted by screening only a small proportion (11 per cent) of the population at child bearing age.

If anti-thalassaemia programmes have been successful in the high risk Mediterranean countries, it is first of all, due to the educational campaign that fully informed the large majority of adults about the disease at or before the stage of marriage. thus offering them the opportunity of making an informed decision about reproduction. The efficacy of the screening programme was magnified by the fact that the relatives of the carriers and patients were also screened. Since screening, counselling and prenatal diagnosis were introduced through social health service, they were completely free of charge. This obviously removed the potential economic access barriers to health facilities. Another very important prerequisite for success was the availability of adequate facilities to meet the demand for screening, counselling and prenatal diagnosis before the educational campaign.

Nevertheless, the most important challenge is the organisation of such programmes in societies where thalassaemia is prevalent such as ours.

The writer, a professor at the PGI, Chandigarh, is the President of the Indian Society of Haematology and Transfusion Medicine.

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