On Haemophilia

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Haemophilia is an inherited bleeding disorder. People with haemophilia do not bleed any faster than normal, but longer. This is because their blood does not have enough clotting factors. Clotting factors are proteins in blood that helps control bleeding. Haemophilia is quite rare. About 1 in 10,000 people are born with it.

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What is Haemophilia ?

The most common type of it is Haemophilia A which is also called “Classical Haemophilia”. This is caused by the low level of Factor VIII in the person. It affects 1 in 10,000 people. The other is Haemophilia B, also called “Christmas Disease”. It is caused by the low level of Fcator IX. It is affects 1 in 30,000 people. The symptoms, dangers and effects is the same in both Haemophilia A and B.

 

How do people get Haemophilia ?

Unlike most blood related diseases, Haemophilia is not contagious. A person has to be born with it, to have it. Someone cannot catch it like cold or even like HIV. Heamophilia is passed on through a parent’s gene. Genes carry messages about the way the body cells will develop as a baby grows into an adult. They determine a person’s hair and eye colour for example. Though inherited, haemophilia sometimes occur where there is no family history. This is called sporadic cases. About 30% of people with haemophilia did not get it through their parents. It was caused by a change in the person’s own genes, which is called “mutation”

Inheritance Pattern

A man carries XY chromosomes, while the woman carries XX chromosomes. The clotting factors are on the X Chromosome. This implies a man with haemophilia has his X chromosome carrying the haemophilia gene, while a man without haemophilia will have both his X and Y chromosomes without the haemophilia gene. A woman who carries the haemophilia gene will have one X chromosome affected and the other not affected; while a woman not carrying the gene has two unaffected X chromosomes. Bearing this in mind let’s see how haemophilia is passed from parent to children. A man without haemophilia who marries a woman, who is not carrying the gene, cannot have children with haemophilia except for sporadic cases. A man with haemophilia who marries a woman who is not carrying the gene, will have all his daughters carrying the gene. This is because to have a daughter he donates one of the X chromosomes and the wife donates the other. Since his X is affected she automatically carries the haemophilia gene. Daughters of men with haemophilia are called obligate carriers. On the other hand all his sons will not have haemophilia. This is because to have a son, he gives a Y and the woman gives a X, and since the haemophilia gene is on the X chromosome, the boys are not affected (see figure below).

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Women who carry the haemophilia gene are called a “Carriers”. Some carriers sometimes present with signs of haemophilia, they are called “symptomatic carriers”. When a man without haemophilia marries a woman who is carrier, they have a 50% chance that in every pregnancy they could have a daughter carrying the gene or not. They also a 50% chance of having a son with haemophilia or not.

What are the levels of Severity of Haemophilia ?

Severity describes how serious the problem is. The level of severity depends on the amount of clotting factor that is missing in the body. There are three levels of severity.

Every person is expected to have between 50% – 150% of Clotting Factors to have a normal activity. Persons with haemophilia don’t have up to this.

MILD HAEMOPHILIA (5 %– 30% of clotting factor activity)

Persons with mild haemophilia present with the following:

  1. Bleed after surgery or a very bad injury.
  2. Might never have a bleeding problem
  3. Do not bleed often
  4. Do not bleed unless injured.

MODERATE HAEMOPHILIA (1% – 5% clotting factor activity)

Persons with moderate haemophilia present with the following:

  1. Bleed after surgery, dental work or a bad injury.
  2. Might bleed about once a month.
  3. Rarely bleed for no clear reason.

SEVERE HAEMOPHILIA (less than 1% clotting factor activity)

Persons with severe form of the disorder are the most delicate. They present with the following

  1. Bleed often into the muscles or joints (mainly the knees, elbow, and ankles)
  2. Might bleed once or twice a week.
  3. Might bleed for no clear reason.

What are the likely signs of Haemophilia ?

The signs are the same for both Haemophilia A and B. They include

  1. Big bruises
  2. Bleeding into muscles and joints, especially the knees, elbows and ankles.
  3. Spontaneous bleeding (sudden bleeding inside the body for no clear reason, which is mostly common with severe cases)
  4. Bleeding for long after getting a cut, removing a tooth, or having surgery.

Bleeding into joints and muscles causes:

  1. Aching or funny felling.
  2. Swelling
  3. Pain and stiffness
  4. Difficulty using the joint or muscle.

Where does the bleeding occur most often

People with haemophilia can bleed inside or outside the body. If bleeding occurs many times into the same joint, the joint can become damaged and painful. Repeated bleeding can cause other health problems like arthritis. This can make it difficult to walk or do simple activities.

How is Haemophilia treated ?

Though cure has not yet been found for haemophilia, persons with haemophilia can lead a near normal live. Without treatment persons with severe form may find it difficult to go to school or work regularly. They might even become physically disabled and have trouble walking or doing simple activities. Today treatment for haemophilia is very effective. The missing clotting factor is injected into the bloodstream using a needle. Bleeding stops when enough clotiing factor reaches the spot that is bleeding. There are some basic facts to note in the treatment of persons with haemopihia:

  1. reat bleeding quickly: Quick treatment will help to reduce pain and damage to the joints, muscles and organs. If bleeding is treated quickly, less products is needed.
  2. If in doubt, treat: If you think you have a bleed, get treatment even if you are not sure. NEVER wait until a joint is hot, swollen or painful. Do not worry that you may “waste” a few treatments.

When treatment should be given

Treatment is given for:

  1. Bleeding into joints
  2. Bleeding into muscles, especially into the arm and leg.
  3. Injury to the neck, mouth, tongue, face or eye;
  4. Sever blows to the head and unusual headaches;
  5. Heavy or persistent bleeding from any site
  6. Sever pain or swelling in any site
  7. All open wounds requiring stitches; and
  8. Following any accident that may result in a bleed

Treatment is given before any:

  1. Surgery
  2. Dental work
  3. Activities that could cause bleeding

What is Von Willebrand Diseases (VWD) ?

Von Willebrand Disease (VWD) is a congenital bleeding disease caused by a quantitative or qualitative von Willebrand factor deficiency. It was first discovered in 1926 by Erik von Willebrand among several members of the same family in the Finnish Aland islands. The von Willebrand factor gene is located on Chromosome 12, which means its symptoms could appear on both sexes. This explains why both males and females can have it. However, it is more dominant among females due to their increased sensitivity to mucous bleeding symptoms (characteristics of von Willebrand disease) as part of their genital life cycle.

Through the mild and moderate deficiencies make up most of the clinical forms identified, few individual present with the most severe form (Type 3). The first female patient identified with the disease had Type 3 and died from uncontrolled bleeding upon her first menstruation.

Menorrhagia, defined as menstrual blood of 80ml or more over the entire menstrual period is one of the most common symptoms. 70% of women diagnosed with VWD presented with menorrhagia. Therefore women who have menorrhagia (heavy menstrual flow) should go for screening for possible VWD. This is to help prepare for the time of pregnancy and delivery, as the risk of prolong and uncontrolled bleeding after child birth is high in women with von Willebrand Disease (VWD) With estimated prevalence of 1% in the general population; a country like Nigeria will have over 1.5 million individuals with VWD. This could be linked to the high mortality rate in women with uncontrolled bleeding after child birth. Signs of vWD

  1. Bruising easily
  2. Bleeding a lot from a cut?
  3. Having nosebleeds a lot
  4. Bleeding from the gums?
  5. Heavy menstrual period (meaning you have to change your pads almost every 2-3hours on the first few days of your cycle?

What is the the Haemophilia Foundation of Nigeria?

The Haemophilia Foundation of Nigeria, HFN, is a not for profit organization which is made up of persons with haemophilia and other forms of bleeding disorder and their support group i.e. their families, friends and care givers (doctors, nurses, physiotherapist, lab technicians). Together, this people have come together will the soul purpose of improving the life of persons with haemophilia and other bleeding disorders. Please see our who we are page for more information about the foundation.

Is it true that HFN provides treatment to members for free ?

Up to the time of publication of this FAQ entry, the Haemophilia Foundation of Nigeria had supplied more than Eighty Million Naira worth of treatment products to persons living with bleeding disorder in Nigeria. This we have done with the support of the World Federation of Hemophilia (WFH). While treatment products are the heart of haemophilia management, we do not provide further treatment beyond giving out the treatment products. Persons with bleeding disorder are still managed by their doctors. However, we provide advise and education to our member

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