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haemophilia explained - understanding haemophilia

Haemophilia is one of a small group of blood disorders that are grouped into three different strands; Haemophilia A, Haemophilia B and Von Willebrand’s Disease.


Haemophilia A is an inherited disorder which is linked to the X Chromosome and shows a marked deficiency in a clotting factor in the blood that goes by the name of VIII, or clotting factor 8.

Haemophilia A

Haemophilia B is also an inherited disorder, again linked to the X Chromosome, but showing a marked deficiency in the clotting factor called IX or 9.

Haemophilia B

Von Willebrand Disease is a similar condition, whereby the body lacks the Von Willebrand clotting factor. This is the protein that helps blood cells stick together and adhere to the vessel walls. This can sometimes, though not always, occur mainly in females.

Von Willebrand Disease

All of these conditions seem to be largely inherited, although in around one third of all cases of the disease, there is no previous link or sufferer within the immediate family.

What exactly is haemophilia?

Put simply, it is an illness in which the blood’s ability to clot is severely impacted. This is because one of the essential proteins that is required for the clotting to take place is either missing in part or is totally absent from the body.

Therefore, when someone cuts themselves or sustains an injury in some way that results in bleeding, the amount they bleed may be greatly increased and the bleeding is much more difficult to stop. However, there are a number of other symptoms and signs that occur too, depending on the severity of the condition.

Signs and symptoms

Depending on how impaired the blood clotting factor is with the condition, signs and symptoms of Haemophilia may vary greatly. The condition is graded as mild to severe depending on the percentage of clotting factor in the blood.

Five percent and just over: Mild Haemophilia.

In cases of mild haemophilia there may be no symptoms at all until the sufferer has an accident or cuts themselves and from then experiences bleeding which does not stop.

One to five percent: Moderate Haemophilia.

This is much easier to detect from an earlier age and is picked up in young children, who seem to bruise much more easily after little knocks or scrapes and suffer the problem of prolonged bleeding after minor accidents. People with moderate haemophilia are also more prone to experiencing symptoms such as bleeding joints which can cause swelling, pain and a lot of irritation and soreness. The most common joints affected are the elbows, knees and ankles.

Under one percent: Severe Haemophilia.

The most severe form of the condition, in which alongside the range of symptoms mentioned above, the sufferer will also experience episodes of spontaneous bleeding which may start in the nose or mouth. Coupled with this is excessive bruising that also appears spontaneously or after very mild knocks to the skin. Other symptoms that may occur include passing blood in either the urine or faeces, bleeding from the gums and inexplicable tightness and discomfort in the joints. Patients who have severe haemophilia may also be more susceptible to bleeds within the skull, otherwise known as an intracranial haemorrhage, these are quite rare, but can be brought on by a knock to the head which causes internal bleeding. The patient may feel sick, or vomit; they may develop a severe headache or suffer from convulsions. They may also have slurred speech and lack of co-ordination. This is a medical emergency which must be treated immediately.

How is Haemophilia tested for and treated?

If there is a history of the condition in the family, it is possible to do prenatal testing for the illness by taking a small sample of cells from the placenta to determine whether the baby will develop haemophilia or not.

In cases whereby haemophilia is suspected in childhood, adolescence or adulthood it can be detected by special blood tests which can be carried out by a doctor.

Once a diagnosis has been gained, treatment can be undertaken. Many years ago, people who suffered from this condition had no way of knowing what was wrong with them or how to treat it and suffered premature death because of a lack of skill and medical knowledge. However, nowadays and in particular the last forty years great medical advances have been made not only in how the condition is diagnosed, but also how it is treated.

There are various treatments for the different degrees of the condition. In cases of mild haemophilia a synthetic hormone called Desmopressin is given. This works to stimulate the clotting factor VIII in the blood and is given in the form of an injection. It is suitable to treat Haemophilia A, but not for Haemophilia B.

For patients with more severe symptoms, or who do not respond to treatment from Desmopressin, a treatment called Octocog alfa is given. This is another form of hormone which is used to simulate clotting proteins in blood and is again, administered by injection.

Sufferers of severe Haemophilia B are likely to be given something called Nonacog alfa, which is a slightly modified version of Octocog alfa, more suitable for sufferers of this type of the illness. Patients at first will be under the supervision of a doctor or nurse who will administer the drug to them, but over time they will be trained to be able to inject themselves.

The abovementioned drugs can all be stored at home once the patient is trained to treat themself, but must be kept cold to ensure their effectiveness, therefore it is recommended that they are stored in the fridge or a cool-bag, but never in a freezer or ice-box as too cold a temperature destorys the medication.
If knocks or bleeds to the joints occur, as well as prescribed pain relief, the medical advice is always to administer Rest, Ice, Compression, Elevation (RICE) to help with pain, swelling and discomfort.

Persistent bleeding must be treated by a trained medical professional, however, patients are always advised to have a full first aid kit with plenty of provisions for dressing wounds such as plasters, sutures and steri-strips, dressing, wadding and cotton wool.

For some, the condition can mean they feel trapped or too afraid to go out in case they become ill or injure themselves. Many choose to carry a wrist band which informs people that they are a Haemophiliac and may require medical treatment if they become unwell or experience an episode of bleeding.

Haemophilia Resources

Haemophilia Blogs

It can sometimes help to read about other patients and carer’s experiences with the condition. With that in mind, here is a selection of blogs that give a lot of helpful information on a more personal level.

Sweet Affliction


Sweet Affliction

A well written and autobiographical blog that gives a lot of good information about how to manage daily living with the condition, it includes lots of useful links to external sites relating to the illness too.



This is a great site comprising three different blogs written by sufferers from varying backgrounds, one of whom is a mother who writes honestly about her experiences of coping with the illness in her child and the various challenges it presents her with.




A very well thought out blog that is well maintained and updated regularly, offering perspectives on raising money to fight haemophilia worldwide. The site also has a very useful list of other blogs written by sufferers.

Hemophilia Moms


hemophilia mom's

An interesting resource for all parents and carers of someone with the condition, offering support and advice for anyone who needs information on anything to do with the topic of coping with children who have haemophilia.


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