Health Watch

An easy way to prevent Thalassemia

World Thalassaemia Day: 8-5-2010:

Dr. Shantha Hettiarachchi

The marriage is expressed by the most of Sri Lankans as Bamba ketoo hati in their words. It means that the marriage is decided through unseen powers such as Brahma.

Prior to the marriage, matching of the partners will take place according to their ethnic and religious concepts too. Nevertheless, it may get revealed that this type of matching, is incomplete when the couple get a new born baby with hereditary disorders. Hence, a few more matching of marital partners should be completed to avoid these easily preventable problems.

Thalassemia represent a higher position in the list of preventable hereditary disorder through screening, clinical matching and marriage counseling. It has a long history, over 50,000 years in the world. Thalassemia is derived from a Greek word of Thalasa means ‘sea’ because it was found in a valley south of Italy and Greece covered by the Mediterranean sea.

The Thalassemias are the commonest inherited haematological disorders and also the commonest single gene disorders in the world population. It is also a major cause of mortality and morbidity in South East Asian region. It is a significant burden to the health services and economy of many countries.

A basic knowledge on blood and anaemia is necessary to understand about thalassemia. The blood consists of cells and the liquid part of plasma. The white blood cells, red blood cells and platelets represent the cellular elements of the blood. A red coloured, oxygen carrying pigment, called hemoglobin is found in the red blood cells. Hemoglobin is essential for body metabolism as it carries oxygen to the cells of every tissues and organs. A person will develop anaemia, when there is a decrease in the level of hemoglobin in the blood below the reference level for the age and sex.

This genetic hemotological disorder of thalassemia is characterized by absent or decreased production of normal hemoglobin, resulting an anaemia. The hemoglobin molecule consists of a hem and globin. The protein moiety of globin synthesis is impaired, as there is a mutation of the genes in thalassemia. According to these mutations, synthesis of the main globin chains, namely alpha and beta is markedly reduced. Eventually, it leads to a decreased production of haemoglobin with anaemia. Then the disease state is named as beta thalassemia or alpha thalassemia, depending on the relevant type of globin chain, production of which is impaired due to this disorder.

There are two forms of thalassemia, called as thalassemia major with clinical manifestations and thalassemia minor without clinical manifestations. Thalassemia major is a severe inherited childhood anemia in which hemoglobin synthesis is highly inadequate. These children are normal at birth but become grossly anaemic within the first year of life with failure to grow, poor feeding, intermittent fever and delay in improving from recurrent infective illnesses.

They need regular blood transfusions in life to avoid fatal complications and to secure optimum growth and development. As the red blood cells in the transfused blood are broken down, the iron released from these cells are accumulated in their body. The overload of iron can damage the vital organs, such as heart, liver and pancreas to cause heart failure, liver disease and diabetes. Therefore iron chelation therapy with the drugs such as Desferrioxamine has to be continued concurrently with blood transfusion to avoid these complications by removing extra iron from the body.

The persons with thalassaemia minor, known as carriers of thalassemia are healthy and normal but some of them can manifest milder degree of anemia. This carrier stage is commonly discovered while they are undergoing a test of blood picture for some other circumstances.

The beta thalassemia is the most important form of thalassemia, causing a major public health problem in many countries. It was estimated that 1.5 percent of world population are carriers of beta thalassemia and around 70,000 beta thalassemic babies are born annually.

The alpha thalassemias are commoner than the beta thalassemias but the consequent public health problems are less as the mild form of the disease do not produce major disabilities.

Currently, more than 2500 children are living with thalassaemia major in Sri Lanka. The highest number of patients are reporting in Kurunagala, Kandy, Anuradhapura and Badulla districts. About one hundred new patients are accumulating to the total number annually.

The country has to allocate 7 percent to 10 percent from total health expenditure for the clinical management, necessary for these patients. It was stated that the expenditure is around ten million rupees in managing one thalassaemic patient in a lifetime.

If both partners are thalassemic carriers there will be a 25 percent chance of giving birth to baby with thalassemia. If the thalassemic carrier marries a normal partner there will be no risk of getting a thalassemic baby.

There is no possibility in having a thalassemic baby, when there is a marriage between a thalassemic patient and a normal partner too. Therefore, prevention from thalassemia is not a difficult task if the people have a basic knowledge on these simple scientific facts.

The thalassemia carrier state could be identified by simple blood tests. It is very important to know whether they are carriers of the disease prior to marriage, especially when they are living in areas with high prevalence of thalassemia, such as North central, North Western, Uva, Central and Western provinces of Sri Lanka.

The one essential act to avoid is the marriage between two thalassaemic carriers. As the facilities in screening for thalassemia and counseling are currently available provincially, the public will have the responsibility to use these services wisely.

May 8 marks the World Thalassemia Day. It should be noted that the quality of life of the thalassemic patients, is improving from day to day with the advances in treatment. While giving proper care to the people who has developed the disease, every body should try their level best to prevent the disease.

A place for healthy criticism

Nadira Gunatilleke

Criticizing is very common for everyone. Everywhere and every time. Healthy criticism is allowed in any democratic environment. Therefore, Health Watch will provide a space for healthy criticism!

The silent agonies of thousands of innocent patients who faced `problems’ while obtaining medical treatment and the heartaches of their loved once should be heard. They should be given an opportunity to express their experiences. Medical negligence cannot be a prohibited word.

Doctors are the experts of health and medicines. Patients are there to follow their medical advice. Hospitals are there to serve the public. Drug stores and pharmacies are their to sell or issue drugs free of charge (in the state sector). There are companies which provides ambulance services, home nursing care and many other health related services. There are a large number of people who obtain their services. Almost all of us visit some sort of hospital or similar medical institutions for various requirements.

During all these processes, mistakes, shortcomings and acts of negligence can take place. There is a possibility that some of them can be forgiven and some of them cannot, because it involves with human life.

There are certain things that we all observed in Sri Lanka during the past few decades. Some facts, incidents and information came out through media and some did not due to the pressure put on media by persons and business establishments. Some got hurt after reading about them while some were thrilled to see their agonies get publicity through newspapers and television. Almost all Sinhala newspapers and television stations report the agonies of innocent patients but not many English newspapers do so. This is all about some ‘incidents` took place and to be taken place in our medical institutions time to time.

All human beings feel pain. All people feel bad when their loved once get affected due to shortcomings, mistakes or negligence by others. All health professionals get angry and sad when they get bad publicity and get accused for the things that they have never done and not responsible for. So what goes wrong? How and where?

One thing is sure when carefully observing the health sector in Sri Lanka. It is, certain things go wrong sometimes, somewhere and somehow no matter how hard the health authorities try to offer the best health care service to the public!

Whenever something happens in the health sector (such as raising dengue deaths or imputing wrong body parts), many come out with different types of criticism. Most of them do not have something health to offer or healthy criticism.

The majority of the critics have their own agendas and use criticism to push forward those agendas. Some critics criticize because of certain personal reasons such as hatred, to obtain financial benefits from interested parties or it may be because of the greed for publicity! No matter whatever reason it is, it should voice the voiceless and assist the victims.

Here is one good reason that proves the importance of having healthy criticism on our health sector. How many incidents of possible medical negligence was reported in Sri Lankan print and electronic media during past years or decades?

All of us know a large number of such incidents were reported. There were incidents when children and adults lost their healthy body parts, mothers got killed after child birth and infants and school children got killed after receiving vaccines.

How many such cases were investigated? Maybe all or at least many of them had been investigated by the relevant authorities. Where are the results of those hundreds of investigations?

Where are the culprits? It is impossible that not a single culprit found from hundreds of investigations on hundreds of incidents! Who protects the culprits and why? Where is the justice? What is the situation of the victims?

This issue will be discussed in length next week. Until then the whole issue can be described in a single sentence. It is Horage ammagen pena aseema! (inquire about the thief from his mother!)

Maybe this is the reason why no culprit found so far from the hundreds of investigations conducted on hundreds of `medical negligence incidents’ took place in Sri Lanka during the past.

Raising awareness of speech delay in children

Ishara Jayawardane

Speech delay in children is a serious problem in Sri Lanka that needs to be looked into. It is not a problem that should be ignored since ignoring this problem will not bring any relief or do any good either to the patient or his/her family. It is a distressing problem and immediate treatment must be administered.

People are not aware of such type of disorders. They don’t know there is something called speech therapy that can help them. So basically what we do here is, hearing testing. Other than that we have speech therapy for all the kinds of communication disorders such as language problems after stroke and stammering. We have special education programs for children who need special education. Not the normal education”, Speech Language Pathologist Buddhima Samaraweera said.

Samaraweera outlined the problem by saying that usually the child starts talking at one year to one and a half years. What happens here is even after two years mothers think the child will talk later. Speech delay can be for many reasons, can be because of autism or mental retardation. If the child has any delay, if the child is not speaking at all even after one year there not even a single word then you should go to a paediatrician. Some children have normal speech delay they will catch up later. But some children are in the early stage of some kind of problem and that is not something to be ignored.

In the first year the first word should be there. It is a process. In three months the motor development takes place and at six months they start babbling. It is a critical point. Children with autism don’t have that kind of babbling. If the child is not babbling that could be a problem. In 10-11 months they start speaking jargon. Jargon should be there.

What is Autism? “Autism is spectrum. It is a pervasive development disorder. It is a life long disorder. What we can do is we can modify things. You cannot cure autism. They have problems with adjusting to society and they cannot socialize. Usually we diagnose autism after three years.

There are also other forms of speech disorders. One is mental retardation. The other is cluttering. That is when they speak very fast and the listener cannot understand what the person is saying. Even the removal of the larynx after cancer can cause speech disorder”, explained Samaraweera.

Voice disorders can be cured. Before they go to surgery they come for speech therapy. If the speech therapy is successful they don’t have to go for surgery. For stammering mostly they improve but there is a chance for recurrence. So when the disorder recurs all they have to do is attend a few sessions.

Hearing loss can also be linked to speech problems. Because our speech is clear because we get feedback. So when they can’t hear they can’t get feedback and so they can’t correct themselves.

“We should not ignore. If the child is not speaking at one year three months then they should see a doctor. If they are not learning new words at a good rate then they should see a speech therapist”, Samaraweera added. Samaraweera also pointed out that speech disorder can be the cause of mental disorder.

They can have language disorders. Children should be regularly treated on speech therapy in weekly session.

“Speech therapy is a team effort. Take mental disorder. We should know what is going on in his life. That you can get from psychiatrists. So we should have that kind of communication. We are a team otherwise we are not able to do it alone, illustrated Samaraweera.”

(The writer is Speech Language Pathologist of the Ratmalana Audiology Centre).