Types of bleeding disorders, Queensland Haemophilia Centre
Haemophilia A is caused by a deficiency of a protein in the blood called Factor VIII. The level of factor VIII in the blood determines the severity of haemophilia. Factor levels of less than 1 to 2 per cent are found in people with severe Haemophilia A, these people experience spontaneous bleeds into joints or muscles.
Moderate haemophilia is found in people with Factor levels of 2 to 5 per cent and they may experience spontaneous bleeds. Or those with mild haemophilia, who have factor levels of between 5 to 50 per cent, usually only experience bleeds following trauma or surgery.
Children with severe Haemophilia A often begin to show increased bruising around the age of one year. It may present earlier, if the child under goes surgery (including circumcision), or after minor trauma (including immunisations).
The major problem in severe Haemophilia A is painful bleeding into joints, mainly the knees, ankles and elbows. These bleeds may occur spontaneously. If not treated promptly the bleeds may result in permanent arthritis and disability.
Most children and adolescents with severe Haemophilia A receive preventative treatment (prophylaxis) with an intravenous infusion of Factor VIII, two to three times a week. This is to prevent spontaneous joint and muscle bleeds.
Most people with Factor VIII deficiency requiring treatments will have a synthetic type of Factor VIII called Recombinant Factor VIII. Those with mild Haemophilia may be treated with DDAVP.
With appropriate management and factor replacement children and adults with inherited bleeding disorders can lead active and normal lives.
Haemophilia B (or Christmas disease) is caused by a deficiency of a protein in the blood; Factor IX. Haemophilia B is less common than Haemophilia A however, the symptoms experienced by those affected are similar to those with Haemophilia A.
The level of Factor IX in the blood determines the severity of Haemophilia B:
People with severe Haemophilia B have factor levels of less than 1 to 2 per cent and they experience spontaneous bleeds into joints or muscles.
Moderate haemophilia is found in people with factor levels of 2 to 5 per cent, they may experience spontaneous bleeds into joints and muscles.
People who have have factor levels of between 5 to 50 per cent, usually only experience bleeds following trauma or surgery.
Most children and adolescents with severe Haemophilia B receive preventative treatment (prophylaxis) with an intravenous infusion of Factor IX, two times a week. This is to prevent spontaneous joint and muscle bleeds.
Most people with Factor IX deficiency requiring treatment will have a synthetic type of Factor IX called Recombinant Factor IX.
von Willebrand's Disorder
Von Willebrand's disorder is caused by a deficiency (type 1) or an abnormality (type 2) of von Willebrand factor. It is the most common of the inherited bleeding disorders, occurring in about 1 in 1000 of the population.
Occasionally this can be a severe disorder, in the case of von Willebrand's disorder (type 3) with similar symptoms to Haemophilia.
Von Willebrand's disorder differs in a number of respects from haemophilia.
- It is usually mild.
- It occurs in both males and females.
- It can be passed on both by males and females.
- Levels of von Willebrand factor vary from day to day, due to stress, exercise and hormones, sometimes making diagnosis difficult.
Joint bleeds are uncommon and most people experience excessive bruising, bleeding from mucous membranes such as nose bleeds and bleeding following some types of surgery or dental extractions. In women, heavy periods may be experienced. In 85 per cent of cases, some symptoms may be lessened as the level of von Willebrands factor can be increased with stress of surgery or hormones including those affected during pregnancy.
Treatment for von Willebrand's disorder varies depending on the type (1,2,or 3) and the severity based on symptoms and results of blood tests.
In those with Type1 von Willebrand's disorder and mild reductions in von Willebrand factor, a medication DDAVP (desmopressin acetate) is given intravenously or subcutaneously to stimulate the release of von Willebrand factor into the circulation and prevents or treats bleeding. This infusion may need to be repeated. Intravenous Factor VIII concentrate can be used in cases where DDAVP is not effective.
Bleeding disorders and women
Women can be affected by inherited bleeding disorders that may cause problems with heavy menstrual bleeding (menorrhagia), possible haemorrhage following childbirth and prolonged bleeding following trauma or surgery.
Haemophilia (A or B) is an X linked disorder and presents in males. In 10 to 15 per cent of cases of women, who carry the haemophilia gene, lower levels of Factor VIII in Haemophilia A or Factor IX in Haemophilia B can occur. These women are referred to as symptomatic carriers of the haemophilia gene. These lower levels of clotting protein may predispose women to heavy menstrual loss, prolonged bleeding following surgery or bleeding post delivery. Some symptoms may be lessened in surgery and pregnancy as the level of coagulation protein can be increased by the stress of surgery or hormones induced by pregnancy. In those with Haemophilia B (Factor IX), hormones do not increase clotting protein levels.
Von Willebrand's Disorder can affect both sexes and vary from a mild disorder to the occasional severe disorder similar to Haemophilia. Symptoms of von Willebrand's Disorder vary from bruising, frequent blood noses (epistaxis), excessive bleeding from surgery or tooth extractions and heavy menstrual loss (menorrhagia).
Other less common bleeding disorders can result in similar bleeding problems in females - including Factor XI deficiency and platelet disorders.
Prolonged menstrual bleeding may lead to iron deficiency and anaemia. Tranexamic Acid tablets may be used to minimise bleeding if taken early in the period. The oral contraceptive pill can also be used to minimise bleeding. If these treatments are ineffective there are other options available.
Prior to surgery treatment to increase the level of clotting protein can be performed. DDAVP - either a subcutaneous injection or an intravenous infusion over 30 minutes may be used. If this is ineffective, a clotting factor concentrate may be used in some cases of von Willebrand's Disorder. DDAVP is not useful for Haemophilia B.
Miscarriages and terminations early in pregnancy may result in prolonged bleeding, as the effect of hormones is not as great early in the pregnancy. Bleeding a few days after miscarriage or termination may occur. This may require medical assessment and treatment.
Ensure that your treating obstetrician is aware that you have a bleeding disorder and that they can get further information and assistance from the staff of the Haemophilia Centre.