These are a series of inherited blood disorders that all have one thing in common - a genetic defect in the production of haemoglobin, the protein in blood cells responsible for carrying oxygen. Because there are many different disorders with defective haemoglobin production there are many types of thalassaemia. Alpha thalassemia disorders range from lethal to harmless and are particularly common in Mediterranean and Afro-American races. The more familiar type of thalassaemia is called beta thalassemia of which there are two forms - minor and major (also sometimes called Cooley's anaemia) - and is more frequent in people of Italian and Greek origin. No treatment is necessary for thalassemia minor. The more dramatic effects occur with thalassemia major.
What Causes Thalassemia?
This is a genetic problem revolving around incorrect beta globin chains - protein sections of haemoglobin - of which there are 4. In thalassemia minor there is only one copy of the ß thalassemia gene and one normal ß chain. In the major form there is no normal ß-chain gene and consequently a dramatic reduction in the production of haemoglobin.
What Are The Signs And Symptoms Of Thalassaemia?
At birth, a child with thalassemia major appears normal but within months begins to develop anaemia which is progressive. There is a reluctance to feed, poor growth and they are easily fatigued. Fever - often sporadic - and intestinal problems are also common.
Will I Have Any Tests Or Investigations?
If there is a history of thalassaemia in the family, or the ethnic background of the patient suggests the possibility of thalassemia, specific blood tests can now allow for accurate diagnosis of the thalassemias. If the diagnosis is not considered initially, there may also be a set of standard other tests performed such as chest or bowel X-rays and other blood tests before the picture becomes apparent.
What Treatment Will I Need For Thalassaemia?
Thalassemia major is an extremely difficult disease to treat effectively, and hope currently rests on gene therapy in the next decade. For the present however, blood transfusions are the mainstay of treatment for children with thalassemia major. These help the anaemia but can create other problem such as iron overload.
Can I Do Anything To Help Myself?
Once thalassemia is present there is nothing that can be done to alter this. Genetic counselling can help to reduce the incidence of children born with thalassemia major. Parents with thalassemia minor have a 25 per cent chance of having a child with thalassemia major, a 50 per cent chance of having a child with thalassemia minor and a 25 per cent chance of having a child without thalassemia.
Tell Your Doctor
1. Is there thalassemia in the family?
2. Is your child losing weight?
3. Have you ever been tested for thalassemia?
4. Does your child have difficulty feeding?
5. Does your child seem paler than normal?
Ask your Doctor
1. Will I or my children need to see a specialist?
2. How often may blood transfusions be required?
3. Can I give my own blood to my child?
4. Can I give blood normally as a blood donor?
5. Are there long-term problems with thalassemia minor?