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Parents of blood disease child get £180,000 compensation

The parents of a child born with the life threatening inherited blood disorder, thalassaemia, have settled out of court with their local health authority for £180,000 plus costs.

Posted on 24 May 2004

The parents of a child born with the life threatening inherited blood disorder, thalassaemia, have settled out of court with their local health authority for £180,000 plus costs. The couple’s local hospital failed to identify them as ‘at risk’ of having a child with the disease, despite the mother being a known carrier.

Thalassaemia (correctly known as ß thalassaemia major but often abbreviated) is an inherited blood disorder that is known to be prevalent amongst people of Mediterranean, Middle Eastern and Asian origin, as well as those from China and the Far East. Where both parents are carriers of the gene, there is a 1 in 4 chance, in every pregnancy, that the fetus will have inherited the gene from both parents and will have the full-blown disease (thalassaemia major, bthalassaemia).

Carriers have one normal gene and one thalassaemia gene. In most cases the carrier is healthy because their normal gene produces enough haemoglobin for them to get by. Children who inherit two abnormal genes are unable to produce adult haemoglobin which carries the oxygen around the body in the red blood cells.

At birth, babies have fetal haemoglobin but from around six months old, as this is, or should be, replaced by adult haemoglobin, the thalassaemic baby begins to show signs of severe anaemia. In order to survive the child needs regular blood transfusions and drug therapy to remove the excess iron loaded into their system by the transfusions.

The couple, who are both of Mediterranean origin, arrived for their first antenatal appointment and told the hospital that the mum-to-be was a thalassaemia carrier. Her partner had been tested for thalassaemia some years earlier but thought that he had tested negative. However, he did not have a written test result to prove this. In such circumstances, the hospital should have confirmed his thalassaemia status, either by retesting him themselves (all this would have taken was a quick blood test) or by obtaining a copy of the written test result from his GP or the laboratory where the test had been originally conducted. Unfortunately, the hospital did neither.

The father had been wrong about his thalassaemia status. He was in fact a carrier and, as a result of the hospital’s failure to verify this, the couple were not identified as being “at risk” and were therefore not offered prenatal fetal testing for thalassaemia. As a result their first child was born with thalassaemia major.

Screening for thalassaemia

Major efforts over the last 20 years have been made to try to identify healthy carriers in advance of, or at latest during pregnancy, so that they can be made aware of the risk of serious blood disorder in their offspring and have informed reproductive choice.

Ideally, adolescents and young adults from the affected ethnic groups should be made aware of the condition and offered screening for the carrier states before pregnancy.
The purpose of the screening is to identify women who carry the disorder and to counsel them accordingly. If their partner is also a carrier, they are identified as a ‘couple at risk’ of having a baby with a major haemoglobin disorder.

The couple are offered in-depth counselling and pre-natal diagnosis. This is possible from about the 11th week of pregnancy onwards and is used to see if the baby will be affected. They are then in a position to consider termination of the pregnancy.

The great majority of couples who know at the beginning of their pregnancy that they are at risk of having a child with a condition as serious as b thalassaemia major, accept the offer of pre-natal diagnostic procedures and many will choose to have a termination if the fetus is identified as having the disease.

Living with thalassaemia

ß thalassaemia major is an inherited blood disease which means that the body is unable to produce adult haemoglobin (HbA), the oxygen-carrying pigment in red blood cells. Without essential blood transfusions every 4 weeks or so, the couple’s child would become severely anaemic and eventually die.

However, the child’s dependence on donor blood also leaves him vulnerable to viruses in the donor blood units, including the most commonly transmitted virus, hepatitis C.  There is currently no vaccine against the virus and about 25% of UK thalassaemics have evidence of hepatitis C infection. A significant number of these will develop chronic liver disease, which can progress to cirrhosis and finally liver cancer.

Repeated red cell transfusions also cause excessive iron to be loaded into the body. This is poisonous to the vital organs. Patients, from a very early age,  require medication that removes (or chelates) the excess iron which cannot otherwise be naturally excreted.

Five nights a week, their child undergoes this iron removal therapy. One hour before, his parents have to apply anaesthetic cream to his stomach and the drug is then slowly delivered over 10-12 hours using a mechanical syringe pump. This is a huge burden on the family as well as being uncomfortable, restricting and distressing for all concerned.

Iron overload is responsible for most of the complications faced by thalassaemia sufferers. It can cause destruction of the liver, the endocrine glands and the heart. This damage causes disturbed metabolism,  growth retardation, diabetes and bone problems. The reproductive organs are highly sensitive to iron damage and delayed or arrested puberty and fertility problems are  common.

The main cause of death for thalassaemics (70%) is heart failure and heart rhythm disturbance caused by iron damage to the heart muscle and conducting tissues. In fact, before iron chelation therapy, survival beyond late teens was unusual. Treatment and prognosis has improved over the last 30 years but not to the extent that had been hoped for. So, although some UK thalassaemics are now living into their 40s and beyond, the situation, for children with thalassaemia is still highly unpredictable.

The future

In the future it may be possible that major blood diseases, like thalassaemia and sickle cell anaemia, will be cured by gene therapy. This is where normally functioning genes are inserted into cells whose own inherited genes are defective.

For our couple, the only hope for a cure for their child is to be able to produce a ‘tissue matched’ brother or sister to act as a donor for a bone marrow transplant. Two attempts have already been made to identify an embryo, using IVF and pre-implantation diagnosis, that doesn’t have the disease but which would also be a good match for their child’s bone marrow.

The couple are determined to carry on trying pre-implantation diagnosis to have another child who will be a match. They will use the money they have obtained from this case to finance further IVF attempts. We wish them all the luck for the future.

The family was represented by Anne Winyard and Sarah Campbell in the Clinical Negligence department at Leigh Day & Co.