Improving the lives and long-term outcomes
of people impacted by bleeding disorders

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Promoting excellence in haemophilia 
care, education, advocacy and support.

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Haemophilia is a bleeding disorder. The blood of a person with haemophilia does not clot normally because they lack one or more of the plasma proteins needed to form a clot, and stop the bleeding.

A person with haemophilia does not bleed faster than other people; however, bleeding will last for longer and in many cases will not stop without adequate treatment with factor replacement therapy.

The most common type of haemophilia is factor VIII deficiency, known as haemophilia A. Recent studies indicate that around 87% of haemophilia cases globally are haemophilia A*. The second most common type is factor IX deficiency or haemophilia B (sometimes known as Christmas disease).

Both haemophilia A and B are very rare disorders. Estimates indicate that approximately one in 10,000 people born in New Zealand has haemophilia. Recent studies suggest that over 430 New Zealand residents have haemophilia.

Small cuts on the skin are usually easily treated with first aid, but bleeding deeper into muscles or joints can cause major pain and permanent damage. Although superficial bruising can look dramatic, it is often a sign of bleeding that has already occurred. Internal bleeding gives greater cause for concern because you usually cannot see it. Some bleeding episodes occur because of injury (trauma), but in severely affected patients they can occur seemingly without cause. However, it is more likely that these bleeds are caused by micro trauma that was not felt at the time, and when the bleeding becomes obvious it is no longer attributed to the trauma. If untreated, bleeds can be life threatening, and immediate treatment is often necessary for bleeds in the head, throat, gut, or iliopsoas (groin). Thankfully, most bleeds can now be managed and treated effectively.

Although physical fitness and activity is encouraged to build muscles and prevent bleeding, in order to minimise the risk of injury, people with haemophilia are advised to avoid contact sports and activities with a high potential for contact injury. Advice on individual activities varies according to the severity of haemophilia.

*World Federation of Hemophilia Global Survey 2004

Who is affected

Haemophilia is a hereditary disorder; it is something you are born with. It cannot be caught from another person like a cold.

The most severe forms of haemophilia usually only affect males (see Inheritance as to why). Women can be seriously affected, although this is rare. Many women who are “carriers” of the haemophilia gene do, however, have mild haemophilia, which can cause symptoms that seriously affect their quality of life. In people with mild haemophilia, because of menstruation and childbirth, often woman have more frequent issues than men with similar factor levels.

While haemophilia’s more severe symptoms tend to affect males more commonly than females, there are other bleeding disorders that affect males and females equally. In fact, because of menstruation and childbirth, some bleeding disorders, such as von Willebrand’s Disorder can have a major impact on affected women and they are diagnosed more commonly than males. (see von Willebrands Disorder and Rare Bleeding Disorders).

There is no cure for haemophilia – it is a chronic illness that affects a person for their whole life. The life expectancy of someone with haemophilia, and their quality of life, varies greatly depending on whether they receive proper treatment. Globally, 75% of people with a bleeding disorder do not receive adequate treatment, or any at all [visit www.wfh.org for more information]. Without sufficient treatment, many people with haemophilia die before they reach adulthood. However, with proper treatment, life expectancy for people with haemophilia is almost the same as those without haemophilia. Although people with haemophilia and related bleeding disorders living in New Zealand are fortunate in that they have access to factor replacement therapy, they still face a range of challenges throughout their lifetime.

While haemophilia is a genetic condition, some people are affected by a form called acquired haemophilia, which means their blood spontaneously produces an antibody against blood clotting factor VIII. Acquired haemophilia is a very rare condition that only affects between one and four people in every million each year. Pregnancy and autoimmune diseases such as rheumatoid arthritis and cancer may increase the risk of developing acquired haemophilia. However, acquired haemophilia can also emerge in elderly people without any risk factors. It can be a serious condition: many people develop severe bleeds and up to one in five may die from bleeding if not properly diagnosed. It is treatable using Immune Tolerance Therapy (ITT) or a combination of other medications to stop bleeding.

Inheritance

Haemophilia is a hereditary bleeding disorder. In most cases, haemophilia is passed on through a parent’s genes.

Our DNA contains the genetic instructions for the development of most inherited traits. Among the genes and chromosomes we inherit from our parents are two sex chromosomes, labelled X and Y. In terms of genetics, haemophilia is known as a sex-linked disorder because the genes responsible for producing Factor VIII and IX are situated on X chromosome. Females inherit two X chromosomes, one from the mother and one from the father. Males inherit one X chromosome from the mother and one Y chromosome from the father.

Since a man has only one X chromosome, if it has the haemophilia gene they will have haemophilia. All daughters of a man with haemophilia will carry the haemophilia gene, the X chromosome they received from their father, which they can then pass on to their children. The sons of a man with haemophilia will not be affected unless their mother also carries the gene for haemophilia (very rare).

Since women have two X chromosomes, they are usually less severely affected by haemophilia than affected males in their family. It is unlikely that both a women’s X chromosomes will contain the haemophilia gene (unless both parents are affected). They can still pass on the gene and are often affected by milder bleeding symptoms. For each child of a women with the haemophilia gene, there is a 50% chance that a son will have haemophilia and a 50% chance that a daughter will carry the gene. In some cases, haemophilia is "hidden" for many generations if no affected male children are born. In such cases, the gene for haemophilia is carried through several generations of females who, because they have a second X chromosome may be unaffected or only mildly affected by bleeding issues, and often go undiagnosed themselves. Mothers of children with haemophilia may have fathers, grandfathers, brothers or other male relatives on the maternal side of their families who were born with haemophilia, but it is estimated that about 30% of boys born with haemophilia are born to families who were unaware of haemophilia in the family.

Symptoms & Diagnosis

Symptoms of haemophilia

The signs of haemophilia A and B are the same:

  • Big bruises
  • Bleeding into muscles and joints
  • Prolonged bleeding after getting a cut, removing a tooth, or having surgery.
  • Bleeding for a long time after an accident, especially after an injury to the head.

In babies, the first signs of haemophilia are usually heavy bleeding from the mouth from bites to their gums and tongue, or severe bruising. One common site is the frenulum, flap of skin that joins gums and top lip. This can happen when falling with a pacifier in their mouth or pushing items into their mouth.

Bruising when starting to move is also common. This may include bruising on knees from crawling, bruises on the bottom from falling when learning to stand, bruises from areas of bumping, or bruising underarms and back from being picked up.

People with haemophilia can bleed inside or outside the body, although most occurs internally, into the muscles or joints. Bleeding is often caused by minor injury - a bump or a slight twist of a joint. The most common muscle bleeds occur in the muscles of the upper arm and forearm, the iliopsoas muscle (the front of the groin area), the thigh, and the calf. The joints that are most often affected are the knee, ankle, and elbow.

Bleeding into a joint or muscle causes:

  • an ache or “funny feeling”
  • swelling
  • pain and stiffness
  • difficulty using a joint or muscle

If bleeding occurs many times into the same joint, the joint can become damaged and painful. This is often referred to as a target joint, as it becomes the target of bleeds. This can make it difficult to walk or do simple activities. [See Joint Damage]

Any bleeding in a vital area is serious, especially the brain. Brain haemorrhages are the leading cause of death from bleeding in haemophilia. Other examples are bleeding in the neck, throat or tongue.

Diagnosis & Severity

As haemophilia is a hereditary bleeding disorder, more severe forms are often diagnosed in the first year of life. Milder forms of haemophilia may not be identified until later in life. First warning signs in severely affected patients include severe bruising and prolonged bleeding.

If the mother is a known carrier of haemophilia, testing can be done before a baby is born. Prenatal diagnosis can be done at 9 to 11 weeks by chorionic villus sampling (CVS) or by foetal blood sampling at a later stage (18 or more weeks).

If doctors suspect haemophilia in a young child, there are simple lab tests that can be performed through a haemophilia treatment centre. A blood sample can be taken and tested to measure the amount clotting factor activity in the blood. This will allow the doctor to determine if the person has a bleeding disorder, which form of bleeding disorder they have, and the severity. Low levels of Factor VIII indicate haemophilia A, whereas low levels of Factor IX indicate haemophilia B.

 

Classification of haemophilia severity   Level of Factor VIII or IX in the blood 
 Severe    Less than 1% of normal
 Moderate  1% to 5% of normal
 Mild   5% to 40% of normal

                                                                    

The less factor the body produces the more severe the haemophilia – and the more likely a person will suffer from frequent bleeds. A person with severe haemophilia might have several bleeds a week that require treatment, some spontaneous or without a clear cause. On the other hand, a person with mild haemophilia might only require treatment for a bleed after a definite bump, accident, or before dentistry/surgery.

Treatment

Bleeds in people with haemophilia are treated by replacing the missing clotting factor in the blood.

Bleeding stops when enough clotting factor reaches the bleeding site to allow a stable clot to form. It is very important that treatment is given as quickly as possible for joint bleeds to prevent long-term damage. Factor VIII or IX concentrates are infused, or injected into the bloodstream, to prevent or control bleeding. They are very concentrated so that a small amount can control major bleeds, even in surgery. Factor replacement therapy can be effective for up to 3 days.

Although often referred to as ‘blood products’, today most factor concentrates are being manufactured using genetic engineering to create artificial and recombinant factor replacement products that contain no human blood components, making them even safer. Those that are made from donated human blood are subject to rigorous testing and viral inactivation steps to make them as safe as possible.

Early treatment is essential to minimise any long term damage. If you are treating a bleed at home or outside of the hospital you should:

  • Administer factor replacement as soon as possible.
  • Contact your haemophilia centre to arrange for an appointment to see your nurse or physiotherapist.
  • Start to follow the PRICE regimen (Protection, Rest, Ice, Compression, Elevation).

If you experience pins and needles in the bleed site or suspect a brain bleed or a bleed in another vital organ seek medical care immediately. For more information see What to do if you are having a bleed, a brochure produced by the Auckland DHB Haemophilia Centre, which can be accessed online here.

Haemophilia is treated using a comprehensive care model. Haemophilia Treatment Centres provide a comprehensive service for people with haemophilia, and their family, for the treatment of haemophilia and related conditions. The comprehensive care team consists of a haematologist, nurse coordinator, physiotherapist, and an HFNZ Outreach Worker with specific expertise in managing the healthcare needs of persons with bleeding disorders. See a list of Haemophilia Treatment Centres in New Zealand.

After a learning period at the haemophilia clinic, many people in New Zealand undertake the infusion of factor concentrates at home, which allows for quicker treatment when a bleed starts, a more normal life for the person with haemophilia, and a greater acceptance of treatment by young children. Children often learn how to infuse themselves around the age of ten, allowing for greater independence as they are able to treat bleeds anywhere, home, school or on holiday.

Instead of just using on-demand therapy when a bleed occurs, many children and young adults use prophylaxis therapy to prevent bleeding. By regularly infusing factor concentrates several times a week, prophylaxis therapy aims to keep the levels of Factor VIII or IX in the blood high enough to avoid spontaneous bleeds and small trauma related bleeds. Prophylaxis therapy gives children the best chance to reach adulthood without damage to their joints.

One important aspect of treatment is pain management, as due to the swelling, especially in the joints, bleeds can be extremely painful. It is very important that people with haemophilia avoid aspirin and most non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen as they suppress platelet function and reduce blood clotting. A doctor or pharmacist should also be consulted before trying any pain medication to discuss possible side effects.

There is no cure for haemophilia yet, but gene therapy remains an exciting possibility and holds out the prospect of a partial or complete cure for haemophilia. There are many technical obstacles to overcome, but it is encouraging to see that clinical trials for both factor VIII and IX have begun to see success.

Complications of haemophilia

In addition to bleeds, there are a number of other problems someone with haemophilia can develop that may require further treatment.

Joint Damage

The repeated bleeding in and around the joint cavity associated with haemophilia causes damage to the joints. Known as haemophilic arthropathy, the damage is similar to that of a person with arthritis. Permanent damage can be caused by one serious joint bleed; however, the damage is usually the result of many bleeds into the same joint over a period of years.

Bleeding into the joints causes the synovial membrane surrounding the joint to thicken and become inflamed. As a result, the synovial fluid no longer lubricates cartilage around the joint. This condition, called synovitis, causes problems ranging from pain and loss of motion to crippling arthritis. Joints most commonly affected are knees, ankles and elbows, and most adults with severe haemophilia suffer from arthropathy in one or more joints. The result is a loss of strength in the muscles around the joint, pain in the joint even when at rest and loss of motion. If the damage is in the knee or ankle, the person may be unable to walk without pain, drive a car or may need crutches or a wheelchair to get around. The use of prophylactic treatment has reduced the burden of joint damage seen in older patients who grew up with no treatment, or solely or on-demand treatment.

The only way to prevent joint damage is to prevent bleeds into the joints. Bleeds should be treated immediately with factor concentrates and P.R.I.C.E (Protection, Rest, Ice, Compression, Elevation), thus limiting the amount of blood in the joint. As treatment options progress, and with the increased availability of prophylaxis therapy, is it hoped that the development of severe joint damage can be prevented in the younger generation.

Inhibitors

Developing an inhibitor is one of the most serious complications of haemophilia.

Although factor concentrates are very effective in stopping bleeding, some people with haemophilia develop antibodies called inhibitors, as they inhibit how the factor works, making them ineffective. When inhibitors develop, the body’s immune system begins recognising the concentrate as a foreign agent, as it would an unknown bacterium, and eliminates it before the factor can perform its job forming a blood clot. The bleeding in inhibitor patients is the same as in an untreated patient. The main issue is that it makes controlling and preventing bleeds more complicated, thereby increasing the risk of permanent damage from bleeding into the joints, or death from serious internal bleeding.

Inhibitors and Haemophilia A

Inhibitors affect about one in five people with severe haemophilia A, usually when they are very young, but can also develop later in life. Inhibitors also develop in about one in 15 people with mild or moderate haemophilia A, usually during adulthood. Some people may be more disposed to developing inhibitors; however, exactly why they develop still requires research. Inhibitor severity varies greatly, even within the same person. For many, the inhibitors disappear on their own within an average of nine months, while in others they persist and require intensive long-term Immune Tolerance Therapy (ITT), which consists of large daily doses of Factor VIII and/or the intake of other products to weaken the body’s immune response. Alternative products may be required to stop bleeding, as the FVIII is not working. These are known as by-passing agents and include recombinant Factor VIIa, FEIBA, and scemicizumab , which allow the formation of a clot without FVIII being present.

Inhibitors and Haemophilia B

Inhibitors are rare in haemophilia B and only affect approximately one in 100 people. In most cases, the inhibitors develop after a few infusions of Factor IX concentrate. Inhibitors in people with haemophilia B can be extremely serious as they can be accompanied by severe allergic reactions. ITT also does not appear to work well in FIX inhibitors. Recombinant Factor VIIa can be prescribed as an alternative treatment.

Support for families dealing with inhibitors

Both the person with inhibitors and their family face many challenges as the ongoing struggles with haemophilia are intensified.  HFNZ recognise that these people and their families have special support and education needs.  Along with our Outreach service, HFNZ also run Inhibitor Workshops specifically for these families.  It provides them a chance to get together, better understand and find ways of coping with the unique challenges they face.

"The Inhibitor Workshop was awesome in increasing knowledge about my son's condition, helping make better informed choices and meeting others in a similar situation - building a greater support network for us."

HIV & Hepatitis C

The most deadly complications of haemophilia in recent history have been blood-borne infections.

All around the world, including in New Zealand, many people with haemophilia have been infected with HIV (Human Immunodeficiency Virus) and the hepatitis C virus (HCV) from the contaminated plasma, cryoprecipitate, and factor concentrates used to treat bleeds.

Donors who had HIV or HCV unknowingly contaminated the blood supply. Most of the contamination occurred before the cause of AIDS (Auto-Immune Deficiency Syndrome) or a test to identify HIV was discovered in the early 1980s or HCV in the 1990s.

In New Zealand, current blood-donor screening and the use of recombinant factor products have virtually eliminated the risk of transmission of viruses through blood products. Today, clotting factors made from human plasma are treated to inactivate many viruses and every donor is checked for HIV and HCV infection before his/her blood is used.

Although this tragedy forced very rapid changes in the way blood products were manufactured, most people worldwide who used blood products regularly before 1988 were infected with a blood-borne virus. The leading causes of death in people with haemophilia during the last two decades are infections with HIV and HCV.* For patients who are just beginning their haemophilia journey, and starting to require treatment, HCV and HIV are not conditions we expect to be a factor in your haemophilia care.

However, too many people continue to live with the effects of HCV and its destruction of the liver. New treatment products for HCV have offered a quicker, easier, and more reliable cure. Medication does exist to try to prevent HIV from developing into AIDS, and those on these treatments are generally well and living with HIV as a chronic (long-term) condition. However, no cure has yet been developed for this condition.

Support for people with bleeding disorders and Hepatitis C

HFNZ devotes special care to supporting people who were infected with hepatitis C through 'Bad Blood'. For an interesting look at the history of 'Bad Blood', and the role of people with haemophilia in New Zealand advocating for themselves, HFNZ Life Member Mike Carnahan has published Allies or Enemies, available free as a PDF or download for iPhone, iPad, or Android.

Other Support for People with Hepatitis C

For more information on hepatitis C and initiatives to help improve health outcomes for people in New Zealand living with hepatitis C visit the website of the Hepatitis Foundation of New Zealand

*World Federation of Hemophilia 2012