Thalassaemia: All About this Set of Inherited Blood Disorders

Thalassaemia is a general term for a number of inherited blood disorders in which there is insufficient hemoglobin. Specific racial groups at risk are children from southern Mediterranean countries and the Middle East. Sometimes children from Asia and Africa are affected but very rarely are children from northern European parentage affected. Thalassaemia is a genetic condition passed from parent to child. There is no other way that thalassaemia can be contracted.

What Happens?

Thalassaemia Trait

Children who carry the thalassaemia trait are usually healthy but may have mild anemia shown by occasional tiredness, breathlessness, and pallor. Their life is not shortened.

Thalassaemia Major

If a child has thalassaemia major, they will appear well at birth but within months will become pale and irritable, will have a poor appetite and will fail to thrive. There is no cure for thalassaemia major and without treatment a child will die in infancy.

Diagnosis

It is possible to detect thalassaemia before birth either by chorionic villus sampling (looking at a small piece of placental tissue through the cervix at 10-12 weeks) or by a fetal blood sampling at 18-20 weeks of pregnancy.

After the birth a blood test of the baby will confirm the condition.

Care

The symptoms of thalassaemia can be controlled by regular blood transfusions. But, as a result of these, too many iron-rich red blood cells can accumulate in the body resulting in possible damage to vital organs like the heart and liver. To help to reduce this risk a regular dose of drugs given by injections under the skin are essential.

Children are usually given these drugs via a portable pump. This treatment can be unpleasant but if a child is to survive it must be maintained and continued for life.

Ongoing Management

With effective treatment a child can attend and thrive in any childcare setting from daycare to mainstream school.

General Implications

Thalassaemia can be passed on to future generations from carriers who are well in themselves. Genetic counseling regarding the risk for future pregnancies is usually offered.

Developments

Researchers think that it may be possible in the future to 'reverse the fetal switch' whereby children with thalassaemia can make fetal hemoglobin again as they did in the womb. They would be able to make their own blood and would not require transfusion. It may also be possible at some stage in the future to replace the thalassaemia gene with a normal gene to cure the disease completely.

Source: Good Practice in Caring for Young Children with Special Needs (2^nd edition) -Angela Dare and Margaret O'Donovan