Dan Neville (Limerick, Fine Gael)

I welcome the opportunity to contribute on this Bill, which is to transfer responsibility for the procurement of the national stock of clotting factor concentrate products and other biological medicinal products from the Irish Blood Transfusion Service to St. James's Hospital, the national centre for hereditary coagulation disorders, and also the national haemophilia centre.

Clotting factor concentrates are used in the treatment of haemophilia and other clotting factor disorders such as von Willebrand disease. I have experience of the difficulties that can be experienced in the absence of clotting factor. By enabling St. James's Hospital to become the contract holder for the procurement of the clotting factor concentrates and other biological medical products, we will have a more streamlined system of procurement of the products. There will also be health budget savings in their purchase.

When a person's blood cannot clot properly, the condition is generally known as haemophilia. Many use the term but do not understand the full implications of the condition. A person with haemophilia will not bleed any faster than anyone else following an injury, but can bleed for far longer. There is a misconception that there is faster bleeding.

Worldwide more than 305,000 people have haemophilia. In 70% of all cases, there is a family history. In as many as 30% of cases, either the mother may not be aware that she is a carrier, or the condition may have occurred spontaneously. The two most common types of haemophilia are haemophilia A and haemophilia B. The blood of people with haemophilia A has reduced levels of a protein called factor VIII. The people with haemophilia B have reduced levels of a protein called factor IX. Haemophilia is classified by how much of these proteins, known as clotting factors, there are in one's blood. Mild haemophilia usually means a factor VIII or IX level of 10% to 50% of the norm. Moderate haemophilia usually means levels of 2% to 10% and severe haemophilia means levels less then 2%. Once established, the severity of haemophilia does not usually change during a person's lifetime and people in the same family normally inherit haemophilia of the same level of severity.

Everyone's body is made up of tiny cells, each of which contains 46 chromosomes, arranged in 23 pairs. These chromosomes, and in particular the so-called genes they contain, decide many of the things which make us into unique individuals - for example, the colour of our hair and eyes. We inherit half of each pair of chromosomes from our mothers, and the other comes from our fathers. Consequently we have a mixture of our mother's and father's genes. Whereas we may have blue eyes like our mother, we may have brown hair like our father. One of the pairs of chromosomes decides which sex we become. The individual sex chromosomes are called X and Y. Women have two X chromosomes and men have an X and a Y chromosome.

Haemophilia is a sex-linked disorder. This means the gene for haemophilia is found on one of the sex chromosomes – the X chromosome. A woman carrying the haemophilia gene has a 50:50 chance that her son will have haemophilia and that her daughter will be a carrier. All the daughters of a man with haemophilia will be carriers, but none of the sons will have haemophilia. If one is not aware of any history of haemophilia in the family, one's doctor may recommend that the whole family be tested. This will not only help to identify any carriers in the family but will also spot any other, as yet undiagnosed, case of haemophilia.

Typically when the body is injured, blood clots to form a scab. This stops the bleeding and provides protection while the body repairs itself. In mild and moderate haemophilia this also happens, but sometimes the clot is weaker and breaks down before the repair process is finished, which can mean that the bleeding restarts. The clotting process is very complicated and is often described in books using relay races or toppling dominos to help explain it.

To illustrate the difference between severe, moderate and mild haemophilia, it might help to think of the amount of clotting factor in a person's body like the amount of air in a football. Usually the ball is fully inflated, in which case it can be kicked long distances and bounced really high. With mild and moderate haemophilia, the ball is not fully inflated, it is less than half full. The ball can still be kicked and bounced, but not as far or as high. It is not as easy to use as the fully inflated ball, but it still works. This is different to severe haemophilia where there is so little air in the ball that it is barely inflated at all. It cannot be used and it needs pumping up. This is why, in severe haemophilia, more treatment with factor is needed.

People with mild or moderate haemophilia do not usually have bleeding problems in everyday life. They tend only to have problems after an injury, an operation or dental treatment. Those with moderate haemophilia should nevertheless be aware that bleeds could happen from less severe injuries and that nosebleeds may be more frequent and last longer. One is advised to ensure that one learns from the staff at the haemophilia centre how to recognise a bleed and what to do. By contrast with those with mild or moderate haemophilia, people with severe haemophilia have spontaneous bleeds into joints and muscles even when they have not been injured. They need treatment to stop these bleeds or to prevent them.

I recognise the work of the Irish Haemophilia Society, which has been in existence for decades doing excellent work, giving advice and carrying out research on haemophilia.

Haemophilia is inherited but it can appear in any family. The diagnosis can be made from the blood of a newly born baby in mild, moderate and severe cases. The first symptom of haemophilia is usually in the form of extensive bruising as the child learns to crawl or walk. Unfortunately, this is sometimes suspected to be a result of non-accidental injury, but increasingly in such cases it is automatic that coagulation tests are used to investigate the possibility of a child having haemophilia or a bleeding disorder.

Moderate and mild haemophilia may not be diagnosed until later in childhood or, in some cases, adulthood. The process of diagnosis involves many complex laboratory tests on blood samples and takes several days to complete. The time around diagnosis can be a difficult period for parents, particularly when there is no family history of the condition. It is important parents become informed about haemophilia and the impact it will have on their child and other family members. The Irish Haemophilia Society does excellent work in offering support to all family members affected and provides a range of education and support programmes for all age groups.

Most cases of minor injury and scratches do not pose any problem for a haemophiliac, contrary to the general view. A little pressure is usually enough to stop the bleeding. A person with a bleeding disorder does not cut more easily, bleed more profusely or faster than normal. They simply bleed for longer.

I am grateful for the opportunity to speak on and support this Bill.

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