What is Haemophilia?
Haemophilia is a blood clotting disorder in which one of the essential clotting factors is deficient. It affects 1/10,000 people worldwide.
- Clotting factors are produced in the liver and if a person with Haemophilia were to have a liver transplant it would cure their Haemophilia. Because of the high cost and risk to life and the associated high loss of blood at surgery this is not an option for people with Haemophilia in Australia at this time.
- Haemophilia is a congenital, life long condition.
- Haemophilia A or Classical Haemophilia, is the most common form, and is due to the deficiency of Factor VIII (8). Haemophilia B, or Christmas Disease, is due to the deficiency of Factor IX (9).
- There are thirteen or more known clotting factors and people can be deficient in one or more.
- The severity of the disease is dependent on the level of clotting factor the person is deficient in. there are severe, moderate and mild forms of the disease. People with severe Haemophilia produce less than 1% of clotting factor, moderate Haemophilia 2-5%, mild Haemophilia 5-40%.
There is a wide spread myth that people with Haemophilia will bleed to death if they cut themselves. This is grossly inaccurate. People with Haemophilia do not bleed more than someone who cuts themselves, who does not have Haemophilia; they just bleed for longer. First aid measures will generally just require longer compression over the small-lacerated body part than in someone who does not have Haemophilia.
How is it diagnosed?
- Haemophilia is diagnosed through blood tests. One test determines the level of clotting factor in the person’s blood. Another diagnostic genetic blood test examines the X chromosome or sex chromosome that carries the gene for Haemophilia. First indication that a child may have Haemophilia, especially when there is no family history is when they bleed spontaneously and into muscles, under the skin or into joints and into body cavities. Excessive bleeding following mild traumatic episodes, surgery or dental procedures can be another trigger for diagnosis.
- Haemophilia is hereditary. It affects males almost exclusively, and is passed on through unaffected females who carry the defective gene on one of their X-chromosomes. At conception the male child receives the X sex chromosome from his mother and the Y chromosome from his father. Males cannot pass the gene on to their sons but will always pass it on to their daughters who are known as obligate carriers. Because females have two X-chromosomes they do not usually have a deficiency in clotting factor production.
- Between one quarter to one third of all occurrences of Haemophilia appear in families with no previous history of the disorder.
What can be done?
Treatment
- Bleeding is stopped by infusion of the appropriate clotting factor by intravenous injection. If internal bleeding is not quickly stopped with treatment it will result in pain and swelling. Over a period of time bleeding into joints and muscles can cause permanent damage (such as arthritis in the joints) and chronic pain.
- Surgical and dental interventions will usually require clotting factor infusions prior to and in some cases following the surgery to prevent bleeding.
- Children with severe Haemophilia in Australia are usually always commenced on Prophylaxis (preventative treatment) at an early age. Parents are taught to give the child their infusions at home. When the child is old enough and confident enough they take over the treatment for themselves.
- Severe bleeding episodes are treated in a hospital setting where the person may remain hospitalised for some time until the bleeding has settled.
- Although Prophylaxis does not cure Haemophilia it does help in most instances to prevent bleeding into joints and spontaneous bleeding episodes.
Complications
- Many people with Haemophilia in Australia have and will receive clotting factor replacements extracted from human blood.
- Unfortunately prior to blood donor screening test being available for the HIV and Hepatitis B and C viruses many people with Haemophilia received infected blood products.
- Human blood products are much safer now since screening of donors has been intensified.
- Most children and many adults are now in the main treated with Recombinant clotting factor synthesised in a laboratory. These new products are heat treated, filtered and washed to prevent the transmission of any viruses.
- There is still however a minute risk of viral transmission with both human and recombinant products.
Genetic background now and the future
- Gene Therapy Research for a cure for Haemophilia is currently under way in the USA. The results so far have been promising.
- Couples are now encouraged to seek genetic counselling planning a family where there is a known history of Haemophilia.
- Known females who carry the gene for Haemophilia are screened as young adults to determine their clotting potential prior to surgical intervention and pregnancy.
- Counselling and education is offered to these young women who often have seen their fathers or brothers experience many bleeding episodes.
- There is a 50% chance with each pregnancy that the Haemophilia gene may be passed to either male or female child by its mother or a female child by its father.
- Detection of genetic disorders such as Haemophilia and the child’s sex before birth are now possible. Processes such as chorionic villus sampling or amniocentesis in the first and second trimesters of pregnancy can be done. Intensive counselling is mandatory, as these tests are risky to the developing foetus.
Von Willebrand Disorder
- Von Willebrand Disorder is an associated genetic, hereditary clotting disorder, which affects males and females equally.
- When blood vessels are damaged, platelets (tiny particles in the blood) clump together at the site of the injury; von Willebrand factor is like a “glue” that makes these platelets stick to the areas of blood vessels that are damaged.
- There is a 50% chance of an affected parent passing the gene on to their offspring. People with von Willebrand Disorder do not have enough of a protein called von Willebrand factor in their blood and it takes longer for bleeding episodes to stop. Some of these people also have low levels of clotting Factor VIII.
- The disorder is usually less severe than Haemophilia. For many, it is so mild that it is not diagnosed at all unless the person has surgery or a major accident.
- Many people with von Willebrand Disorder don’t have any symptoms but those who do may experience:
- Frequent nosebleeds.
- Easy bruising.
- Heavy menstrual (period) flow.
- Excessive bleeding from the mouth.
- Bleeding usually occurs only after injury although people with the severe type of von Willebrand Disorder may bleed spontaneously.
* Source : Haemophilia Foundation SA Inc
