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What is Haemophilia?

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new What is Haemophilia?




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What is Haemophilia?

The general term haemophilia describes a group of inherited blood disorders in which there is a life long defect in the clotting mechanism of the blood. Blood contains many proteins called clotting factors, and these work to stop bleeding. The lack of clotting factor causes people with haemophilia to bleed for longer periods of time, than people whose blood factor levels are normal. However, people with haemophilia do not bleed faster than other people. Most bleeding in haemophilia occurs internally, into the joints or muscles. The joints that are most often affected are the knee, ankle, and elbow. Repeated bleeding without prompt treatment can damage a joint. The incidence of haemophilia in the general population is 1 in 10,000 (therefore about 1 in 5,000 of the male population has haemophilia).


There are two types of haemophilia. Haemophilia A which is a deficiency in Factor VIII and Haemophilia B (or Christmas Disease) is a deficiency in Factor IX. Both types of haemophilia share the same symptoms and inheritance pattern, only blood tests can differentiate which factor is affected. The severity of the condition is related to the degree of deficiency of the relevant clotting factor in the blood.

Haemophilia is a genetic blood disorder, which is usually inherited. The gene is passed down from a parent to a child. A person who is born with haemophilia will have it for life. Some of the signs of haemophilia are, large bruises, bleeding into muscles and joints, spontaneous bleeding, and bleeding for a long time after a cut or surgery


Inheritance
Haemophilia is an inherited condition. However, it is possible for the condition to appear in any family. It is thought that at least 30% of people with haemophilia have no family history of a bleeding disorder. It is difficult to be exact about this because of the way in which haemophilia is inherited. Technically, it has a “sex linked recessive" inheritance pattern. This means that while generally only males are affected by the condition, it is passed on through the female member of the family. When the father has haemophilia, but the mother does not, none of their sons will have haemophilia, however all of their daughters will be obligate carriers, carrying the haemophilia gene. His sons will not be affected by haemophilia, nor will they be “carriers".

Father with haemophilia
The daughter of a man with haemophilia is an obligatory carrier since she has received an 'X' chromosome from her father. This means that each of her sons will have a 50% chance of having haemophilia. A carrier has one normal and one defective 'X' chromosome.

Mother with haemophilia
The daughter of a female carrier also has a 50:50 chance of being a carrier herself. Because of the ability for the defective gene to remain hidden through several generations of carrier daughters, it can be difficult to know whether there really is a family history, or whether the problem has just been dormant for several generations.

Girl with haemophilia
The vast majority of persons with haemophilia are male. It is, however, possible for a girl to have haemophilia. Many carriers would be categorised as having mild haemophilia. However, it is possible due to lyonisation of the 'X' chromosome for a carrier to have severe haemophilia. It is also possible for a girl to have severe haemophilia if her father is a person with haemophilia and her mother is a carrier.


Diagnosis
To diagnose haemophilia, a cord blood sample from the newborn baby can be used. This applies to mild, moderate and severe cases. In at least 30% of cases of haemophilia there is no known family history and the occurrence of haemophilia is presumed to be the result of a spontaneous genetic mutation.

Cases of severe haemophilia may become apparent and be diagnosed at an early age as a result of surgery or injury. For example, prolonged bleedings may follow circumcision, routine blood sampling or routine childhood vaccinations.

More often the first symptom of a bleeding tendency is 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 a bleeding disorder. Cutting teeth is another stage at which the condition may become apparent.

Moderate and mild haemophilia may not be diagnosed until later in childhood or in some cases even in adulthood. Because there is some clotting factor available, more minor injuries will heal normally and it may not be until a major injury occurs that the deficiency is revealed. 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 families


Treatment
Each bleeding episode must be promptly treated by an intravenous infusion of the clotting factor which is deficient. Once the bleeding stops, pain rapidly diminishes and use of the limb returns. The factor concentrate is administered as an intravenous injection. This concentrate is manufactured as a white powder which should be reconstituted with sterile water, which is provided with the factor.

The Factor VIII and Factor IX concentrates used for treatment of haemophilia can be manufactured from blood plasma, these are known as plasma derived factor concentrates. Alternatively, they can be manufactured through a recombinant cell line, these are known as recombinant factor concentrates. The factor concentrates used for treatment of Factor VIII and Factor IX deficiency in Ireland are recombinant factor concentrates. Plasma derived factor concentrates are used in Ireland for treatment of von Willebrands Disease, as there is currently no recombinant factor concentrate available.

What cannot be emphasised enough is that a person with haemophilia must have treatment as soon as a bleed starts. It prevents further bleeding, pain and, most importantly, reduces the likelihood of permanent damage to joints (target joints).

Home Treatment
Home treatment is the ideal method of treatment from a medical viewpoint as a minimum amount of time is lost between the recognition of a bleed and treatment. This has many advantages. It reduces the disruption caused by a bleeding episode to the person with haemophilia and his family, and the patient feels more able to control his condition.

The benefits of home treatment not only include increased independence and the bonus of not having to travel to the hospital at all hours for treatment, but school and work attendance is more regular and participation in social activities is easier. If bleeds are treated promptly the period of incapacity caused by each episode is reduced.

In adults and teenagers, this procedure is usually carried out by the affected person. In younger children this will be taught to parents and in babies a device called a portacath can be used to facilitate venous access


Inhibitors
Some people with severe haemophilia develop an antibody or inhibitor to factor treatment. The effect of this is that when the factor is given for a bleed there is no clinical response because the activity is immediately neutralised. Often the first sign that a person has inhibitors is that his treatment does not appear to be working.

Inhibitors to Factor VIII occur in about twenty percent of individuals with Factor VIII deficiency. The inhibitors can be high titre or low titre. High titre inhibitors refer to a higher level of inhibitors which is more clinically significant and more difficult to eradicate. Low titre inhibitors are often transient and the person can still be treated with factor concentrates at higher doses. If a child develops a high titre Factor VIII inhibitor, the optimum therapy is immune tolerance therapy where the child is treated with very high doses of Factor VIII for an average period of about one year, in an attempt to eradicate the inhibitors. Treatment for Factor VIII inhibitors can be with a number of agents including a recombinant Factor VIIa (Novo Seven) or an alternative product known as FEIBA.

Inhibitors in patients with Factor IX deficiency are extremely rare and are more difficult to treat. In general, children and adults with haemophilia are screened for inhibitors at least once or twice per annum.


Carriers
Carrier Testing

If you are a female relative of a person with haemophilia it is important to know if you are a carrier. You should know about any bleeding tendency prior to surgery or any dental procedure. It is vitally important to know your carrier status when planning a family.

Obligate Carrier
You ARE a carrier if you are:
A daughter of a man with haemophilia.
A mother with more than one son with haemophilia.
A mother with one son with haemophilia and a blood relative with haemophilia.


Possible Carrier
When a man has haemophilia the following family members should be tested for their carrier status: Mother, Sisters, Grandaughters, Cousins, Nieces, Aunts
If you are a carrier it is important to be aware of your factor levels as this can be relevant if you require surgery, are undergoing any dental procedures, are planning a family and when you are pregnant.

If your daughter is a Carrier
It should not be assumed that a young girl who has grown up with a father or brother with haemophilia is aware of her possible carrier status. A young girl needs to be given information relevant to her age and using language that she can understand. This information needs to be given on an ongoing basis as she matures to help her understand it at her level.

When the time comes for your daughter to be tested for her carrier status (usually 16 years of age) you will need to be extra supportive. Remember that at her age personal image is all important and allow for some negative reaction. Your daughter will be aware of other family members attitude to the bleeding disorder affecting your family and will be influenced by that.

Remember that where as daughters may not be tested for carrier status until they are sixteen years of age, it is very important that parents know their child's factor level as soon as possible. This is especially important if the child may ever require surgery or any situation which may result in bleeding, as if they are a carrier their factor level may be low.

Why do Carrier Testing?
A. To allow women and families to be informed of the risk of having an affected male child.
B. By excluding someone from being a carrier, they can be reassured about their pregnancy and health of any male child.
C. By diagnosing someone as being a carrier we are informing them that any male child would have a 50/50 chance of having haemophilia, and that this would be a lifelong disorder.
D. If your daughter is a carrier, this will allow her to educate herself about Haemophilia and prepare for the prospect of having children with haemophilia.

Diagnosis: Haemophilia Carriers
Prior to diagnosis your Personal Bleeding History will be taken.
The following information will be sought:
Do you bruise easily?
Have you bleeding post dental or post operatively?
Your menstrual history?
Do you experience bleeding or bruising after trauma

Genetic Counselling
For carriers or possible carriers it is advisable to undergo genetic counselling preferably before becoming pregnant. Genetic counselling will provide you with information to enable you to make an informed decision in relation to family planning. It will also be an opportunity to address issues that you or your partner or family have about passing on haemophilia to your child.

Genetic Testing - The Process
1. A member of the family who has haemophilia should initially give blood samples.
2. Blood samples are taken from the person being tested
3. DNA is extracted and the sample is screened for the mutation.
4. The result is given to the person who was tested, results in extreme cases may take 1 - 2 years
5. A repeat sample is taken for confirmation.
6. The patient is registered on the NCHCD database.
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