THALASSAEMIA

           (Also known as Cooley’s Anaemia or Mediterranean Anaemia)

February 2000

Thalassaemia is a blood disorder.  It is important to understand the structure and function of the blood before Thalassaemia can be understood.

Blood

Blood is the red liquid being pumped round by the heart.  It is made up by a yellow liquid called plasma and 3 types of cells - white cells, platelets and red cells.

The white cells defend the body against infections.  The platelets stops blood loss when the body is cut.  There are may more red cells than white cells. The red cells carry oxygen from the lungs to the body tissues. They are full of red pigment called haemoglobin.

Anaemia

If there are too few red cells or if there is too little haemoglobin in them, then the diagnosis of anaemia is made.  It simply means shortage of blood.  If the anaemia is mild it does no harm and may not even be noticeable.

The commonest from of anaemia is Iron deficiency anaemia which is due to lack of Iron in the diet.  It can be cured by taking Iron medication.

Thalassaemia

Thalassaemia is quite different.  It is an inherited disorder and cannot be cured by taking medicines.  The red cells are smaller here so the amount of haemoglobin it carries is less.  It therefore carries less oxygen to the body.

How is Thalassaemia Passed on

Every characteristic of the body is controlled by ‘genes’ which is present in every cell.  There are always 2 kinds of genes - one passed from the mother and the other from the father.  Among many other genes there are 2 genes present to control how haemoglobin is made in the red blood cells.

‘Normal’ people are normal because they have 2 normal genes for haemoglobin from  each parent.  Those who have one normal gene from one parent and one altered or abnormal gene from the other parent are healthy because one gene is working well.  They are said to be healthy carriers of Beta-Thalassaemia Trait. Since gene is inherited from each parent, at least one parent must be a carrier.  People with Beta-Thalassaemia Major have 2 altered genes from haemoglobin, one inherited from each parent, so both their parents must be carriers.

¨    When both parents are normal  -  they cannot possibly pass on Thalassaemia Trait or Thalassaemia Major to their children.

¨    When one parent has Thalassaemia Trait and one is ‘normal’ -  50% of children will be Thalassaemia carriers.

¨    When both parents are Beta Thalassaemia carriers -  they are a ‘couple at risk’ - 25% of children will be normal, 50% will be Beta-Thalassaemia carriers and 25% will have Thalassaemia Major.  It is possible to test the foetus during pregnancy to see if it has Thalassaemia Major.

A paragraph on Thalassaemia Major.

THALASSAEMIA MAJOR

In Thalassaemia Major a child is quite ill and anaemic.  Their haemoglobin drops to less than 50% so they look quite pale.  They often have a big spleen.  They need regular blood transfusion - often a unit of blood every month.

If Thalassaemia Major is not treated, the child becomes weaker and weaker.  It stops growing.  The spleen gets bigger and bigger so the stomach gets big.  The cheek bones and bones of the forehead begin to bulge.  Death occurs if no treatment is given.

TREATMENT OF THALASSAEMIA MAJOR

1)   Blood transfusion usually every 4 weeks.

2)   Surgical removal of spleen.

3)   Daily injection of drug called Desferal.

The ultimate cure for Thalassaemia Major is bone marrow transplant.  It involves a brother or sister donating his or her bone marrow.  The whole procedure is extremely painful, dangerous and expensive to the sum of over £50,000.

How Does Thalassaemia Affect Our Community

IMPLICATION FOR OUR COMMUNITY WORLD WIDE

These results suggest that over 9 out of 100 people in our community are definitely Thalassaemia trait carriers.  This figure is possibly higher - as high as over 18 out of 100.  If 2 carriers marry, their children will have a 25% chance of producing children with Thalassaemia Major.  This would be major disaster for them as well as for the affected child.

Recently, we in the medical Advisory Board have received several children (patients) from our community world wide for treatment of Thalassaemia Major.  Many have died.   The treatment is extremely painful and expensive.

IT IS THEREFORE VERY IMPORTANT TO AVOID MARRIAGE BETWEEN TWO THALASSAEMIA CARRIERS.

Thalassaemia status can only be ascertained by a blood test.

Since the increase of HIV and AIDs is also increasing in our community , they might as well have Aids test too after full counselling.

Since the likelihood of Thalassaemia occurring in an extended family is higher than average, cousin marriages should also be avoided.

The following leaflets are available free from the Medical Advisory Board secretariat  in Birmingham:-

1)         Birmingham Sickle Cell & Thalassaemia Centre Information Booklet.

2)         You could be a carrier of Thalassaemia

3)         Thalassaemia  -  English, Gujarati, Hindi & Urdu.

4)         All you need to know about Beta-Thalassaemia Trait  - English, Gujarati, Hindi &      Urdu.

5)         What is Thalassaemia?

6)         Alpha Thalassaemia

7)         Tied for Life because of Thalassaemia

8)         Bone Marrow Transplantation for Thalassaemia

9)         Living and Coping with Thalassaemia

10)     Fathering Babies

11)     Thalassaemics Adolescence and Hormones

12)     Gene Therapy for Thalassaemia

13)     Cardiac Complications

14)     Bone Marrow Transplantation Fetal Blood

15)     Clinical Trials of Deferiprone (L1)

16)     UK Thalassaemia Register

17)     Thalassaemia & Fears

18)     Beta Thalassaemia Intermidia

19)     Thalassaemia Historical Background

20)     Having Babies

21)     Beta Thalassaemia

22)     Haemoglobin H Disease

23)     What is Thalassaemia (Thalassaemia on-line)

24)     Accessible Publishing of Genetic Information web-site is http://www.chime.ucl.ac.uk/APoGI/

25)     Thalassaemia Asian Awareness Campaign 

26)     Thalassaemia Background to Thalassaemia

27)     Thalassaemia Clinical Fact Sheet

28)     Prenatal Diagnosis for Thalassaemia Major

Videos available on loan:-

1)  Blood Ties  -  English

2)  Why you need to know about Thalassaemia  -  English & Gujarati

For further details, please contact Medical Advisory Board,

106/108 Anderton Park Road, Moseley, Birmingham. B13 9DS.  UK.

Tel: 0121 449 2788     Fax: 0121 449 5988    E-Mail: mab@world-federation.org