If one asks an average Indian about Thalassemia, chances are that he may not have heard about it. In comparison, other life-style diseases such as cancer, diabetes or heart diseases are better known. AIDS, of course, is the most commonly discussed 'exotic' disease amongst the people. Thalassemia is a fairly prevalent disease in India, with the northern part contributing a large number of silent carriers and patients. India has an estimated four crore Thalassemic carriers, i.e. one out of every twenty-fifth Indian is a carrier of this deadly disease. What's worse, an estimated 10,000 children are born with this deadly disease every year. About 80-90 per cent of these Thalassemic infants die either undiagnosed or lack of proper treatment; and yet, a large part of our population remains blissfully clueless.
Thalassemia, in the language of genetics, is an autosomal recessive disease. This genetic defect affects the hemoglobin present in the red blood cells of the body. Classically, the haemoglobin 'binds' the oxygen to it and then carries it to the various organs and tissues in the body thus making the organs 'breathe'. In Thalassemic patients, the genetic defect results in the haemoglobin becoming more 'brittle' thus resulting in a very short lifespan of the red blood cell. There are three varieties of Thalassemia - Thalassemia major, Thalassemia intermedia and Thalassemia minor or the 'carrier' or 'silent' variety. In Thalassemia major, the destruction of haemoglobin far outpaces the production thus leading to severe anaemia or lack of haemoglobin. This causes paleness, retarded growth, and enlargement of liver, spleen and heart resulting from the deposition of iron in these organs. This may even cause death between one to five years of age.
The term Thalassemia is derived from the Greek word 'thálassa' or sea (alluding to the Mediterranean Sea, while 'emia' is blood in Greek. The disease was first reported among children in Mediterranean countries. The other names of Thalassemia are "Mediterranean Anaemia" and Cooley's anemia (after a doctor scientist). Alexander the Great's army is supposed to have 'infected' our country with this blood disorder between 326-323 BC.
Unfortunately, today the disease has spread much beyond the Mediterranean shores as over 250 million people are affected by Thalassemia and allied disorders all over the world. Over 100,000 Thalassemia majors - the patients who suffer from severe Thalassemia - are born annually the world over every year. The Southeast Asia region alone accounts for about 50 per cent of the world carriers (people who carry the Thalassemia gene without suffering any of its ill effects).
Prevalence of Thalassemia
The prevalence of Thalassemia is very high among certain communities such as Punjabis, Sindhis, Gujaratis, Bengalis, Parsis and Lohanas. In fact, there is a high incidence of Thalassemia (up to 15%) among Punjabis & Sindhis, who migrated from West Pakistan. In the Capital alone, about 200 Thalassemia major children are born every year. Since this is a haemoglobin defect, the wider name of 'Haemoglobinopathies' for such disorders is also used in medicine. There are again different varieties of Haemoglobinopathies with HbS (Sickle Cell Disease) and HbD (Punjab) being fairly common in India.
ICMR study
In an ICMR study conducted between September 1984 and April 1988 in Mumbai, Delhi and Kolkata in which over 12,000 school children were examined, the prevalence of Thalassemia was 2.7 % in Mumbai, 5.5% in Delhi and 10.4% in Kolkata.
Tests conducted at Dr Lal PathLabs also show an upward trend. In 2005, of the 12,120 Thalassemia tests by the special Hb HPLC/electrophoresis technique, 1,738 or 14.34 % were reported as Thalassemia minor (carrier state) and 82 or 4.7 % as Thalassemia major. While skeptics may rejoice at the low number of Thalassemia majors, ignorance about the disease is likely to lead to increasing numbers of Thalassemia gene carriers, who on marrying each other are likely to result in 25% chance of giving birth to a Thalassemia major baby.
Anaemia in Thalassemia major cannot be treated with any type of dietary supplements or medicine. The only solution is repeated blood transfusion every two to four weeks. Extra drugs like Desferral, which 'chelate' the iron deposited, have to be administered along with to remove extra iron which is also responsible for early deaths in Thalassemia. The treatment is very costly and unaffordable by most lower middle-class families. For example, the costs of chelation for removing excess iron and blood transfusion is close to Rs 10,000-15,000 per month. Chelation injections cost approximately Rs 2 lakh per year. While treatment with the bone marrow transplant is possible, its enormous cost (over Rs 6 lakh in India), high risk and lack of 100% matching donor restrict its viability. The costs of the latest treatment - stem cell replacement is prohibitive. Barring a few hospitals in India, most do not have the required infrastructure and standards for carrying out these procedures. Thus, apart from causing an emotional and psychological upheaval, Thalassemia also poses a huge financial burden for the family.
In view of the above facts, it is perhaps prudent to adopt the age-old English adage that 'prevention is better than cure'. For the primary prevention, as a concerned citizen of India and practicing physician-pathologist for over 30 years, I will advise Thalassemia minor or carrier detection as the first step to counter this disease. Regular blood tests, especially in the school going age, will catch these carriers early, thus giving the parents a fighting chance to ward off Thalassemia major babies being later. It now mandatory for all obstetricians to find out the Thalassemic status in pregnant mother during her pregnancy. If the mother is negative for Thalassemia minor, nothing more is to be done. If the mother turns out be positive then her husband must be screened for Thalassemia minor also. If the father also turns out be positive, then a special test - Ante - Natal detection of Thalassemia major by molecular diagnostics is to be carried out. If the unborn child is found to be positive for Thalassemia major, the child must be aborted. Countries with a very heavy prevalence of Thalassemia minor like Cyprus have decreased their Thalassemia major population by this method. It must be remembered that 25% of babies born from Thalassemia minor parents will result in being born with Thalassemia major. Thus, there is a 75% chance that the unborn child may not be suffering from Thalassemia major.
I have one more suggestion to offer and this is directed to all those parents who are planning to have their sons and daughters married in the near future. While I have no objection to getting their 'Janam Kundlis' matched by a competent astrologer by matching their horoscopes, do not forget to get the children checked for Thalassemia at an accredited medical diagnostics laboratory before letting them tie the knot! Although this is a must in families with a history of Thalassemia, it would be very beneficial for everybody to know their Thalassemia status.
(The author is chairman & MD of Dr Lal PathLabs Pvt Ltd)