HEALTH TRIBUNE Wednesday, May 14, 2003, Chandigarh, India
 

Thalassaemia: common hereditary disease among Punjabis
Sumitra Dash
T
halassaemia 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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SARS survivorsí woes
Hong Kong:
A study of long-term effect of SARS on patients suggests that nearly 10 per cent of them appear to be suffering from permanent lung damage.

  • Let mom sleep! she's tired
  • Personality can change at any age
  • Microscopic probe to detect tumours
  • Child insomnia
  • Raisins as preservatives
 
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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 parentsí 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.

Carrier detection

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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INFO CAPSULE

SARS survivorsí woes

Hong Kong: A study of long-term effect of SARS on patients suggests that nearly 10 per cent of them appear to be suffering from permanent lung damage.

Although most patients stricken by severe acute respiratory syndrome are believed to recover fully, this marks the first time researchers have found that some who survive may have to contend with permanent breathing problems.

The Hong Kong doctors' revelation adds to the growing recognition that SARS is among the most dangerous lung infections, rivalling a scourge such as tuberculosis.

The report, published in The Age, comes just days after the World Health Organisation doubled its estimate of the death rate from SARS to about 15 per cent overall, far higher than the mortality rates of most other respiratory illnesses. ANI

Let mom sleep! she's tired

Washington: It's no secret that women are chronically sleep-deprived and mothers, especially working ones, are at the top of that list. A survey conducted by the National Sleep Foundation has found that three out of four American women between the age of 30 and 60 years don't get the recommended eight hours of sleep a night during the week. The average weeknight's sleep for women is only about six-and-a-half hours, according to a report in Health Scout.

Women are also more likely to suffer from certain diseases that are associated with sleep disturbances, such as fibromyalgia and depression. Moms have additional difficulties. ANI

Personality can change at any age

Washington: Contrary to popular belief that personality traits are genetically programmed to stop changing by early adulthood, a new study has found that people can change their personality throughout life.

There is considerable evidence against it, say the authors. In the study, "average levels of personality traits changed gradually but systematically throughout the lifespan, sometimes even more after age 30 than before." The study, has been published in the Journal of Personality and Social Psychology. ANI

Microscopic probe to detect tumours

Washington: A nano-sized probe would soon make it possible to detect pre-cancerous and malignant tumours in the gastrointestinal system, thus helping early diagnosis and treatment of such diseases, claims a UC Irvine research team. The team has received a five-year, 1.4 million dollar National Institute of Health grant to develop a microscopic probe which would be inserted into a patient and then guided through the esophagus, stomach and colon to determine if tumours are growing on the wall of the intestine. The probe would be remotely controlled by a surgeon operating a device called an endoscope. ANI

Child insomnia

Washington: Although there are currently no medications labelled for use for sleep disturbances in children, a new study has found that about 75 per cent of pediatricians surveyed had recommended some type of medication to those with difficulties falling and staying asleep.

Pediatric sleep disturbances are among the most common and challenging complaints, and a set of clinical experience-based guidelines needs to be developed, the study published in Pediatrics suggests. ANI

Raisins as preservatives

Washington: Raisins have a new role to play, keeping beef jerky tasty, nutritious and safe. Researchers at Oregon State University have determined that raisins are a great substitute for sodium nitrite, a preservative commonly used in beef jerky.

Mark Daeschel, an OSU food scientist, is a specialist in natural "antimicrobials" - natural substances added to food that inhibits the growth of harmful micro-organisms. Daeschel and colleagues have completed research, indicating that ground up raisins work just as well as the preservative sodium nitrite, typically used as a processed meat preservative by the food industry. ANI
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