Thalassaemia, a deadly disease

'Thalassaemia is a disease of the red blood cells. Red blood cells are red because it contains haemoglobin. An adult has about five litres of blood in their body. A child has about 80 ml/kg of blood. There are about 5 million red cells in 1 millilitre of blood. Each red cell contains about 250 million haemoglobin molecules'said Dr. Mudiyanse Rasnayaka of Kurunegala Teaching Hospital in an interview with the Sunday Observer .

Excerpts

By Nilma DOLE

Q: Explain what is meant by thalassaemia and how one can get it.

A: The word Thalassaemia is derived from the Greek word "thalassa" meaning sea, and anaemia is for the lack of haemoglobin in your blood. The reason for this is because thalassaemia was first discovered and is more prevalent in countries around the Mediterranean sea. It is also called Cooley's Anaemia after American paediatrician Dr. Thomas B. Cooley, who described the disease in 1925. However, the disease is seen all over the world now because of the migration of people. Around the world, nearly 4000 babies are born with thalassaemia every year, 95 percent of whom come from developing countries. In the world, 269 million people (4 percent) are thalassaemia vectors (thalassaemia minor) who pass on their genes to their offspring even though they themselves are not suffering from the disease.

Thalassaemia is a disease of the red blood cells. Red blood cells are red because it contains haemoglobin. An adult has about five litres of blood in their body. A child has about 80 ml/kg of blood. There are about 5 million red cells in 1 millilitre of blood. Each red cell contains about 250 million haemoglobin molecules. Each haemoglobin molecule is made up of four haem molecules and four globin chains (shown in picture). Haem is broken down to release iron and produce a yellow colour 'bilirubin' which causes jaundice in thalassaemia patients and other conditions with breakdown of red blood cells.

There are two types of globin chains - bêta chains and alpha chains.

If there is a lack of alpha chains they have alpha thalassaemia and if there is a lack of bêta chains, they will have beta thalassaemia.

The production of these globin chains is based on the genetic information found within the chromosomes of almost all 100 trillion cells in a person.

Children acquire genetic information from their parents at conception. If a child acquires one defective gene responsible for the production of beta chains from one of the parents, he/she still can be healthy if he/she has acquired a healthy gene from the other parent. When they have acquired only one defective gene they are called thalassaemia vectors. Thalassaemia vectors do not have any symptoms. In fact, they have a lesser risk of death due to malaria, ischemic heart disease or strokes. This is the only advantage of being a thalassaemia vector but not good for their children.

Unfortunately if both parents are vectors there is a chance for both of them to contribute defective genes to the offspring resulting in having a double dose of the defective gene resulting in lack of production of beta chains and causing instability and breakdown of red cells and paving way for thalassaemia disease.

When two individuals with Thalassaemia for marry, there is a 25% chance that any pregnancy can result in a child with Thalassaemia major. Two of four children will have Thalassaemia Minor and 1 of 4 will be normal. These chances are present in each pregnancy. While some families have had only one others have had all of their children affected. Therefore, the marriage between two thalassaemia vectors and the resulting conception could be the only cause of thalassaemia.

Thalassaemia vectors live all over the world but mainly in countries where there was a high incidence of malaria in the past. In Sri Lanka, thalassaemia vectors are found in all the districts but higher numbers are found in North Western (Wayamba), North Central and Uva provinces.

Therefore, more thalassaemia babies are born in these provinces.

Q: What are the signs and symptoms of thalassaemia and how do you detect it?

A: At birth, they look normal. However, due to gradual breakdown of red cells, they become pale and have jaundice (yellowish discolouration). As haemoglobin is vital for transport of oxygen, their growth is impaired as development is low and eventually the children get retarded. Their bone marrow expands and the liver and spleen enlarges. Unfortunately, the children have peculiar faces and protruding stomachs. When a child has these symptoms, it is not difficult for a paediatrician to identity him to be a thalassaemia major patient.

Regular blood transfusions are essential for the survival of these children. Several blood tests are done to determine a final diagnosis which has to be done with great care before establishing that they need lifelong treatment.

Out of 4 grams of the total body, iron absorption in a healthy adult is 3 grams which are found in red blood cells.

Therefore, regular blood transfusions given to thalassaemia patients leads to accumulation of excess iron in their body. When the iron reaches toxic levels, it can damage all the organs in the body including heart, liver and the endocrine glands which can result in heart failure, cirrhosis, diabetes, dwarfism, hypothyroidism and delayed puberty. There is no natural mechanism to remove unwanted iron from the body. Hence, the patient is given medicinal drugs daily. There are two types of drugs. The first is Deferoxamine which is commonly used and most effective. It is an injection given daily as an infusion lasting for 8-12 hours using a battery driven pump at night. The second drug is Deferasirox which is a tablet taken orally three times a day but it does have some side effects. There is a new drug, to be taken once a day which is being developed and it will be introduced in Sri Lanka soon.

Q: According to reports, there are 2000 thalassaemia patients and out of this number, almost 100 children are born with thalassaemia annually in Sri Lanka. Is the incidence of this disease increasing in Sri Lanka? What makes it a dangerous disease?

A: Yes, the estimated incidence is around 80-100 per year. Therefore, we have about 1600 - 2000 patients in the country. Unfortunately, we don't have a thalassaemia register and the exact incidence is unknown but this is not an increase. However, good quality treatment will help thalassaemia patients live longer if they take regular blood transfusions and medication daily.

In this sense, the cost of health care will increase not just twice but by several folds. Therefore, there is a possibility of patients not living longer due to exorbitant costs.

In Sri Lanka, out of 160,000 marriages, only 160 marriages would be between two thalassaemia vectors. These 160 unfortunate marriages contribute to the thalassaemia population in the country producing about 80 thalassaemia major patients per year (depending on the chance). The birth of one thalassaemia case will add over Rs.10 million to the future health budget.

Q: How is a person's blood checked for thalassaemia?

A: The first test is the usual Full Blood Count (FBC) that we commonly do when you have fever and suspected dengue. But in this test, to recognize thalassaemia, we look at the Mean Corpuscular Volume (MCV) and its Mean Corpuscular Haemoglobin content (MCH). If the MCV value is above 80 fl and MCH is above 27pg they are unlikely to be thalassaemia vectors, they would be given a green card. If the MCV value is less than 80 fl or if the MCH value is less than 27 pg, they have an iron deficiency (anaemia) or they are thalassaemia vectors.

Therefore, they can be given iron therapy for three months or investigated further for iron deficiency. Iron deficiency is common and people may be tolerating symptoms like reduced efficiency of work. After iron therapy, they should repeat the blood test and if the MCV and MCH continue to remain low, the problem is likely to be come up because they have become a thalassaemia vector. They should go for the confirmatory test which is called HPLC, available at the Ragama Teaching Hospital. It will be available in Badulla and Kurunegala hospitals soon. If they are confirmed to be thalassaemia vectors, they are given a pink card.

Q: Together with the government hospitals, how has the National ThalassaemiaCentre helped patients? What are the financial implications in treating a patient at hospitals?

A: The National Thalassaemia Center has over 500 patients and all the patients are managed by the Ministry of Health. The average cost of healthcare for one patient would be nearly three hundred thousand rupees annually. So imagine if you calculate the total cost per year for 1600 -2000 patients!

Q: How can healthy people prevent themselves and their children from getting thalassaemia if they are at a risk?

A: There is what is called checking the Thalassaemia horoscope. Everybody should check to see whether he is a thalassaemia vectors before the selects his marriage partner. Until one tests one's blood, one will never know if one is a thalassaemia vector.

If you are not a thalassaemia vector, you will be given a green card and you don't have the risk of having babies with thalassaemia, even if you marry a thalassaemia vector.

If you are a thalassaemia vector you will be given a pink card and you have to be careful when you marry another thalassaemia vector or someone who has not been tested.

If everybody follows this advice from the year 2010, none of them will have babies with thalassaemia.

Q: Are there any countries where this thalassaemia goal has been implemented?

A7: Yes. One of best examples is Iran where they had about 1200 thalassaemia births per year before 1998. They introduced pre-marriage screening in 1998 where they counselled couples if both of them are vectors about the risk of thalassaemia.

Fifty percent of marriages were given up. Others who got married knowing the risk for thalassaemia limited the number of their children to two. The result was reduction of thalassaemia below 100 by 2002.

In Cyprus, the thalassaemia carrier rate is very high but they have very successfully controlled the thalassaemia major cases. Now they have hardly any thalassaemia patients. They screen children when they are young and give them a green card if they are not vectors and a red card if they are vectors.

It is compulsory for all the high risk marriages to undergo medical counselling. People understand the risk of marriage between two vectors. In addition, they have facilities to test genetics of the unborn babies early after the conception by doing 'chorionic villi biopsy', so that affected babies can be aborted.

In our country, this method cannot be adopted because abortions are illegal. However, even though 'chorionic villi biopsy' can be done, prevention is better than cure so don't have children if you are married to a vector.

Q: What is the best way to overcome this disease?

A: It is your decision regarding testing for thalassaemia vectors status and avoiding a high risk marriage. More importantly you and your unborn baby will have to suffer if you don't adhere to the advice.

Q: Are there any vaccinations or methods to prevent children and 'risk groups' from getting thalassaemia? Are there studies being done to find a cure for it?

A: There is no vaccine or cure at present but there is a possibility of transplanting bone marrow from a healthy person.

However, this is expensive and facilities are not available in the country at present. There are other methods of thalassaemia prevention practised in other countries.

Fifty percent of ovum produced by a thalassaemia vector woman has defective genes while 50% of ovum is normal.

Advancement in technology has made it possible to fertilize a normal ovum in order to ensure a thalassaemia-free baby. This technique involves 'in vitro fertilization' and advanced genetic testing. Such facilities will be available in Sri Lanka soon.

However, it is essential for everybody to find out whether he/she is a vector.

In Sri Lanka, the Wayamba Thalassaemia Elimination project has been launched. We are planning to screen five hundred thousand of the population above 15 years before they select their partners for marriage.

Once the program is established every year, around 40,000 people would be screened regularly. Education programs for doctors, nurses, registrars of marriages and marriage brokers have been arranged.

Health News

'Save a life'

by Surekha GALAGODA

A young patient being examined by a doctor

A patient undergoing treatment at the clinic

The best gift a person can have is good health, but unfortunately several thousands of people fall sick daily due to many reasons, be it environment pollution, development of technology or changing lifestyles everything contributes to some sickness.

Many sicknesses can be cured quickly while some need care over a long period or care for the rest of the life.

Sicknesses such as kidney failure needs lifelong care but unfortunately most of the relatives of these patients are not in a position to find the necessary funds for treatment which puts the life of the patient at risk.

Most of the patients in the Anuradhapura area cannot even afford the bus fare to get to a hospital when their life is at risk.

Kidney ailments are fast spreading in the Anuradhapura area where most of the victims are innocent farmers who toil hard to eke out a living. Don't we need to pay our gratitude by contributing a little bit to save their lives for which they will be ever grateful.

According to statistics the North Central Province of the country with a population of 1.2 mln. mainly impoverished villagers, has recorded an extremely high Incidence of Chronic Kidney Diseases (CKD) and End Stage Renal Failure (ESRF) resulting in unprecedented levels of fatalities among all ages.

Approximately 20% of the patients are classified as 'end stage patients' of which 80% die due to the lack of proper medical care.

Over 2000 patients receive treatment at the newly set-up makeshift clinics daily. Of this number 700-800 patients are critically ill and are in urgent need of further treatment which includes kidney dialysis and transplants.

There is a limit the government can spend. Therefore, it is time for the philanthropists to come forward to save a life. One such instance of generosity was extended when the Rotary Club of Colombo West led by Nissanka Samaratunga and the National Kidney Foundation initiated the project 'Save a Life' to equip the Anuradhapura Renal Care & Renal Research Centre with the urgently needed equipment at a cost ranging between Rs. 50-60 mln.

He said that this is one of the main projects undertaken by the Rotary Club of Colombo West during the year 2009/2010.

It has reached epidemic proportions but most people in Colombo don't even know about the disease. Once we got to know of this project three of us visited the hospital to see for ourselves and then on there was no turning back.

Once the project is completed the centre will be equipped with 24 haemodialysis units, a research laboratory, two operating theatres to perform kidney transplant surgeries, a scanning and radiology unit, pharmacy, auditorium as well as fully equipped and furnished wards for patients to undergo dialysis and transplants free of charge.

He said the project was launched with a charity dinner on December 07 and we are targeting to complete the project by March next year.

Already Rotary clubs in two districts of Malaysia and 14 districts of Germany have come forward to support the project Samaratunga said that the Anuradhapura Renal Care & Renal Research Centre is a project of the National Kidney Foundation of Sri Lanka which has already raised Rs 300 mln towards the construction.

It is a six storied building with wards, operating theatres, outpatient clinics, pharmacy as well as a laboratory.

It is ready to provide treatment for 200 in house patients and an even a larger number of outpatients daily.

He said that some of the equipment needed include anaesthetic machines and monitors, operating tables, operating theatre lamps and the list goes on. This is the season of giving and all Sri Lankans have a large heart. Therefore let us get together and support this worthy cause to bring a smile to the innocent faces of the patients and their relatives.

Long-term exercise can slow the effects of aging

by Drucilla DYESS

It's no secret that being a couch potato can lead to ill effects on your health. Scientists have long known that regular exercise can go a long way in the prevention of heart disease and cancer. However, a group of German researchers have discovered that the secret to maintaining youth may also be connected to physical activity, and that the key to slowing the aging process may be revealed by looking at the body's cells. The report was recently published in the journal of the American Heart Association, Circulation.

Dr. Ulrich Laufs, a professor of clinical and experimental medicine in the department of internal medicine at Saarland University in Homburg, Germany, and colleagues, found that the white blood cells of endurance athletes had longer telomeres than those of healthy, nonsmoking adults who did not follow a regular exercise program. Telomeres are DNA located at the ends of chromosomes that protect the tips of the chromosomes from damage.

According to Emmanuel Skordalakes, an assistant professor of gene expression and regulation at The Wistar Institute in Philadelphia, telomeres work in much the same way that shoelace tips prevent fraying of the laces.

Skordalakes explained that as cells continue to divide over the life span, the telomere is shortened with each division until it becomes so short that the cells cease dividing.

This causes aging, leading to loss of muscle strength and skin elasticity, as well as hearing ability, vision, and mental abilities.

During their analysis, the researchers compared the length of the white blood cell telomeres of endurance athletes to those of healthy nonsmokers of the same age who exercised less than one hour weekly.

One group of athletes who participated in the study were members of the German National track and field team, who ran more than 45 miles weekly, and had an average age of 20.

A second group of participating athletes with an average age of 51 had taken part in endurance exercise by having run an average of about 50 miles weekly since youth.

The athletes were found to have better cardiovascular health as indicated by a slower resting heart rate, lower blood pressure, a lower body mass index, and lower cholesterol than the non-athletes.

In addition, the athletes had longer telomeres, and increased activity of telomerase, an enzyme that maintains the telomere.

The findings support previous research on telomere length in twins that found on average that exercise makes cells nine years younger, and indicated that the greater your activity, the greater your benefit.In addition to human subjects, the researchers also used mice to analyze the impact of physical activity on proteins associated with heart disease and cancer. Results showed that mice given access to a running wheel for three weeks experienced increased activity of both tumor-suppressing proteins, and proteins linked to telomere length.

Regarding the study findings, Dr. Laufs said in a statement, "This is direct evidence of an anti-aging effect of physical exercise." In the study report, he and his colleagues concluded, "Our data improve the molecular understanding of the vasculoprotective effects of exercise and underline the potency of physical training in reducing the impact of age-related diseases."

-Healthnews