Treatment
 

History of treatment and Victoria treatment

In the 1940's, blood transfusions were introduced to treat Thalassaemia major patients on a rare bases due to a concern about transfusional iron overload causing organ damage or dysfunction and ultimate fatality. These transfusions had the effect of raising the haemoglobin levels from three to eight grams and therefore increasing the life expectancy between sixteen to eighteen years.
In the late 1960s, high transfusion on average high transfusion regimens were introduced involving regular blood transfusions on average every 4-8 weeks, depending upon individual requirements. The aim of this regimen is to maintain haemoglobin levels as close as possible to the normal range. Desferrioxamine was given by a daily intramuscular injection and was effective for up to 6 hours following each injection. Occasionally there were side-effects associated with this method, example hypotension, nausea and vomiting. (McLaren 1993 page 2)

What is the major treatment now?

The only treatment for Thalassaemia major is regular blood transfusions, usually every three or four weeks. Most children who have these transfusions, usually every three or four weeks grow normally and live quite happily into their early twenties. But to live longer, they need other treatment as well.

After each blood transfusion the red cells in the new blood are broken down slowly over the next four months. The iron from the red blood cells stays in the body. If it is not removed, it builds up and can damage the liver, the heart and other parts of the body. If this damage is not prevented most people with Thalassaemia major die when they are twenty years old.

At present the only way to remove the extra iron from the body is to give injections of a drug called Desferal (correct name is Desferrioxamine) This medication starts between the ages of 4 to 8 years old. Desferal is injected under the skin. The injections are given using a portable battery operated pump. This slowly empties in a 5/10ml syringe over 10/12.5 hours. The pump is used 5-7 nights of every week, therefore treatment takes place in the home. Usually the parents are responsible for the this until the child is able to take over. Desferal pick up the iron and carries it out in the urine.

Do Thalassaemia person need to be on a specal diet?

Thalassaemia major patents should try to keep away from high in iron foods such as red meat, liver, kidney, green leafy vegetables such as spinach, some breakfast cereals, wholemeal breads and alcohol. Although this is recommend, patients do not have to stick with this diet. (Thalassaemia newsletter July 1991 page 3)

Is the treatment effective?

This treatment is very successful and most children treated with blood transfusions and Desferal can now lead fairly normal healthy lives. But the treatment is unpleasant and often upsetting, it also interferes with their desire for an active social life sometimes medication is neglected.

How is the treatment improving?

Treatment today is more advanced then what it was. A Thalassaemia person can enjoy a good quality life, lively in normal activities such as sport, study, work, marriage and family

An oral version in pill or liquid form, would greatly improve the quality and productivity of the lives of Thalassaemia major patients would be better. There have been scientists working on this pill it is known as L1. The results from the L1 have been good except of one specific side affect called "Neutropenia" which reduced the ability of the body to cope with infections so the Thalassaemic person has a risk to infections and can die due to this. But Ciba Geigy (company which researches, and will make the drug when it is discovered) promised to be more involve on the oral chelators. Ciba Geigy believe the oral chelator will be available before 1996 to 1997. Also scientists believe that a cure for Thalassaemia is possible through gene therapy and bone marrow transplantation. Gene therapy would correct the defected gene in Thalassaemia patients. This is done by transferring normal gene into the patients own bone marrow cells. But A bone marrow transplant proven to be a success however the odds against success with possible death over failure. (Newsletter Lifeline 1990)

Why do Thalassaemics need frequent blood transfusions?

The normal lifespan of a red blood cell is 120 days, but in thalassaemics this is shortened. The abnormal production of beta chains means that alpha chains do not have partner chains to pair with in order to make haemoglobin. Excess free globin chains precipitate and damage the red blood cell membrane. The cells eventually lyse, few red blood cells, and little amount of haemoglobin in them induces anaemia. To maintain red cell viability and function, thalassaemics are given blood transfusions. The transfusion of red cells corrects anaemia and makes sure the tissues get a normal amount of oxygen so that the body can grow and function normally.

What is haemoglobin?

Transport of oxygen from the lungs to the tissues is carried out by a highly specialised molecule, haemoglobin, which is contained within red blood cells. Haemoglobin (Hb) consists of two pairs of globin chains.
2 alpha + 2 beta = Hb A
2 alpha + 2 gamma = Hb A2
2 alpha + 2 delta = Hb F
In healthy adults approximately 95% of the Hb is Hb A, <3.5% is Hb A2 and <1% is Hb F.

What is a carrier?

The precise structure of globin chains is encoded by the respective genes. There are two forms 'alleles' of every kind of gene in the body, one inherited from your mother and one from your father. Normal people have two normal genes for haemoglobin synthesis. Sometimes an individual may inherit a defected gene from one parent but a normal one from the other (heterozygote), they are carriers of the trait, however the activity of the normal gene makes enough stable haemoglobin.

Can Thalassaemia be prevented?

Yes. The way to prevent thalassaemia is to prevent the birth of an affected child. Prenatal diagnosis, the ability to detect abnormalities in an unborn child, has been used for over three decades.
 

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