Hemophilia 101

What is hemophilia? And what is a bleeding disorder?

Hemophilia is a genetic condition which affects the body’s ability to clot blood properly. It is caused when the body lacks a gene which can properly manufacture certain blood proteins called clotting factors.

There are thirteen different clotting factors that together work with platelets to create a clot when a blood vessel is broken. This is called the coagulation cascade; if any of the clotting factors is missing it fails to trigger the next one, and blood clotting becomes impaired. If any part of this coagulation cascade is missing a person has a bleeding disorder.

What are the most common types of bleeding disorders?

The most common clotting factors to be missing are Factor VIII, and Factor XI, which cause hemophilia A and hemophilia B respectively. However, the most common bleeding disorder is von Willebrand’s syndrome which is caused by another missing factor, the von Willebrand factor which helps platelets stick to the damaged vessel walls.

Are bleeding disorders serious?

The ability of the body to form a blood clot is a very important. Having a bleeding disorder can be a very serious condition that often requires treatment and some lifestyle modification. However, most bleeding disorders can vary from mild to severe depending on how much factor is produced or how effectively the factor proteins that are produced do their job. People with blood factors levels between 50-25% are said to be mild, and only exhibit symptoms during very traumatic events, such as bone fractures and surgeries.

People with blood factor levels under 1% are said to be serious, these people exhibit symptoms frequently and can even have spontaneous internal bleeding even without trauma. People with factor levels between 1-25% are said to be moderate, and they can have variable symptoms somewhere between those of people with mild and severe.

Why are most people with hemophilia males?

Males tend to be have hemophilia much more commonly than females because the most common types of hemophilia are caused by damaged genes found on X chromosomes. The X chromosome is one of two sex chromosomes that also determine a person’s sex. Females have two X chromosomes, whereas males have an XY combination of sex chromosomes.

This means, if a male has a damaged gene on their one X chromosome then they don’t have a back up copy to correctly make their clotting factor.

Can hemophilia be cured?

Currently hemophilia cannot be cured, but it can be treated by intravenous (IV) injection of the missing blood factor. This type of treatment is called “factor replacement treatment.” With care, people who receive modern and appropriate treatment for their bleeding disorder won’t be held back by their disorder, they can expect to live an active and high quality life.

Can you die from hemophilia?

Today, people with hemophilia who receive modern and appropriate treatment live a near normal lifespan with a high quality of life. Prior to the advent of modern treatments or where treatment is not available the average lifespan of people with hemophilia was only about 11 years.

However, even with modern medicine people with hemophilia should attempt to avoid trauma that can cause bleeds whenever possible. Internal bleeding in the head or in a part of the body that restricts vital blood or air flow are still the leading causes of hemophilia related death.

How does hemophilia affect a person’s life?

It is very important that a person with hemophilia avoid bleeding into their joints. Joint bleeds can lead to severe and permanent joint damage causing life long pain and disability. Prompt treatment or prophylactic treatment is very important in minimizing bleeding into joints. Staying in shape, and having strong and toned muscles can also help prevent joint bleeds.

Most doctors recommend that people with hemophilia avoid activities with high likelihoods of injury, joint stress, or trauma. Activities that should be avoided include: football, hockey, rugby, skateboarding, and motorcycle riding. Other activities with less physical contact but high rates of injury should only be practiced in consultation with a doctor; these include soccer, downhill skiing, basketball, baseball, and tennis.

Can my family doctor manage hemophilia or other serious bleeding disorders?

Hemophilia is an uncommon and very serious disorder that should be managed by an appropriately trained hematologist. In most areas a federally funded Hemophilia Treatment Center is available to people with hemophilia.

Click here to find the treatment center nearest you

Is hemophilia contagious? / Can I catch hemophilia from someone else?

Hemophilia, like all genetic disorders, is something a person is either born with or not born with. No bleeding disorder can be passed from person to person.

What do I need to look out for with toddlers and babies with hemophilia?

The most important thing to avoid is injury to the child’s head. If a child with a bleeding disorder does fall and bumps his or her head you should consult your hematologist. Be on the look out for disorientation, grogginess, and vomiting as this can be related to a serious internal head bleed.

While the child is learning to walk and crawl you can expect the child to develop a lot of bruises, some large hematomas (pools of blood in the soft tissue which cause a large lump), and perhaps some joint bleeds. Many parents choose to pad hard surfaces, corner in the area where their child plays, provide mostly soft play things, and have their child where a soft helmet and kneepads while playing.

What kind of helmet and knee pads work well and are comfortable for small children?

There are many suppliers of helmets and kneepads. Some of the parents in HAM have had good success with light and well ventilated helmets like Comfy Caps and kneepads sewn directly into pants similar to Bee’s Knees Crawling Pants or Comfy Crawlers.

HAM does not endorse any particular products or companies, these are just examples of products which are similar to solutions our members have tried.

How do I know if my child has a bleed that needs treatment?

This can be very challenging at first, but it does get easier with time. Every child is different so only you and your hematologist can best decide when to seek treatment. However a good rule of thumb for joints is if the joint is swollen, feels warm, or the child avoids using it or complains of pain in the area then you should probably contact your doctor to seek treatment. And in the soft tissue, if a hematoma is large and keeps getting bigger or doesn’t begin changing shape and getting smaller after a day or two then you might need treatment.

If the hematoma is in the neck or an area of vital blood flow you should probably consult your doctor as soon as possible. If you suspect a bleed in the head because of symptoms such as vomiting, disorientation, or grogginess consult your doctor immediately as head bleeds are the most serious type of bleed.

What types of treatments are there?

There are essentially two ways to treat, on-demand and prophylaxis. On-demand treatment is treatment only administered when a bleed occurs, this is used for people who do not have spontaneous bleeds (bleeding not caused by trauma) and who get bleeds less often.

Prophylaxis is often used for people with severe hemophilia, those who often engage in risky activities, people with a target joint (has had a bleed in one particular joint more than three times), or those who have frequent and/or spontaneous bleeding.

What types of medicines are used to treat bleeding disorders?

The most common type of medicine is factor concentrate which is intravenously injected to replace the missing clotting factors. Today there are essentially two types of factor concentrates, recombinant and plasma derived. Plasma derived factor concentrate is is made from blood proteins isolated from human blood.

In the past this type of treatment carried significant risk due to blood contamination issues, today due to tighter regulations the risk of contamination is exceedingly low. Recombinant factor concentrate is a product of genetic engineering, where the gene for the blood factor is inserted into a cell culture of another species (like a hamster) and these cells produce high quantities of just these proteins.

Recombinant factor concentrate carries little or no risk of blood born infection. People with mild hemophilia often use a nasal spray called desmopresin to temporarily increase their own levels of factor protein.

Should I get a portacath (AKA a port)?

Portacaths or ports are surgically implanted, semi-permanant, intravenous access tubes where the factor treatment can easily be injected by a parent or caregiver. Many parents enjoy the freedom of home infusion which a port can provide. This is especially true if the child requires frequent treatments, prophylaxis, or if they live far from a hospital which can effectively infuse a small child. There are some risks of serious infection with a port, and you should discuss these risks with your doctor before deciding to get a port.

Only you and your doctor can decide if a port is right for your child.

If someone with hemophilia gets a cut or scrape will there be a lot of bleeding?

Only very serious cuts and scrapes typically turn out to be issues for people with hemophilia, but internal bleeding into joints, the head, or soft tissues like muscles are typically much more serious.

People with hemophilia don’t bleed more than people who do not have hemophilia so a small cut or scrape can often be stopped from bleeding without factor treatment. But occasionally cuts can re-bleed and can require treatment.

What is an inhibitor?

Inhibitors are serious complications to hemophilia. Inhibitors are when your body mounts an immune response to the intravenously injected factor concentrate, the immune response inactivates the factor causing it to be ineffective in clotting blood.

While having an inhibitor certainly makes having hemophilia more complicated, today there are medicine available which will still make treatment possible.

Are there any medicines someone with hemophilia shouldn’t take?

People with hemophilia can take most medicines, however, some medicines have side effects which can complicate hemophilia and should be avoided. Any medicine which thins the blood and has a side effect of prolonged bleeding should be avoid. These include any medacine containing common painkillers, fever reducers, and anti-inflammatory drugs such as aspirin (i.e Bayer), naproxen sodium (i.e. Aleve), and ibuprofen (i.e. Advil).

It is important to read the label and make sure medicines don’t contain these ingredients. Acetaminophen (i.e. Tylenol) is typically the primary over the counter fever reducer and pain relief medicine recommended for people with hemophilia. Bismuth subsalicylate (i.e. Pepto-bismal) is closely related to aspirin and should be avoided for similar reasons. Some doctors recommend against cough syrups containing guaifenesin. Drugs that are prescribed as anticoagulants such as heparine and warfarin should also be avoided.

Ask your doctor or the Hemophilia Treatment Center (HTC) if you’re unsure about what medicines are safe to take. If you are prescribed a new medicine it’s a good idea to ask your pharmacist if the drug has any anitplatelet effects.

Are scientists working on a cure for hemophilia?

Yes! Science keeps getting closer and closer to a cure. A big clue that may lead to a cure is that some people with hemophilia have had successful liver transplants for non-hemophilia related issues, scientists have learned that severe hemophilia can change to mild or no hemophilia due to the factor produced by the donor’s liver. However, a liver transplant is not a workable cure for most people with hemophilia because having a liver transplant causes early death and high rates of life altering complications at a far higher rate than appropriately managed hemophilia.

Because hemophilia is caused by an error in the activity of one particular gene, largely in one organ (the liver), hemophilia is an excellent candidate for repair through gene therapy. It was one of the first diseases scientists tried to cure through the process, sadly the first attempts didn’t work and failed very dramatically, today scientists believe that this was because of how the good copy of the gene was inserted into the liver cells. This failure stopped most research into gene therapy. Today we understand how genes and genetic manipulation works much better than we we did at that time. In fact, research has begun again in earnest and certain types of genetic blindness were cured in human using a nearly identical procedure to the gene therapy that didn’t work on hemophilia two decades earlier.

In late spring of 2011, researchers have again begun using gene therapy to tackle hemophilia, this time using a more precise method of inserting the gene; they’ve already cured hemophilia B is mice. Other scientists have tried a different approach, moving from gene therapy to cell therapy, in a study published in 2009, they reported fairly long term success curing hemophilia A in animals. Their method is similar in theory to a liver transplant, but far less invasive or dangerous. In this method they take a culture the endothelial cells from a liver of a healthy, compatible donor and inject them into the liver of a person with hemophilia. we’re still have a long way to go, but truly we’ve never been closer to a cure, and it may be that some people alive today, may have a cure available to them them during their lifetimes.

I’m having trouble affording medical care. Are there any resources or programs that can help?

Proper treatment is very expensive, maintaining good health insurance is very important for people with hemophilia. While often expensive, the premiums for health insurance are certainly cheaper than paying for regular hemophilia treatments. If you do find yourself unable to afford insurance or other medical related expenses there are a few places you can go for help. Your Hemophilia Treatment Center (HTC) has a social worker who may be able to help by find the resources you need.

People with low to average income may be eligible for help through non-profit organizations dedicated to helping people with chronic diseases such as Patient Serves, Inc. People with low income may benefit from government health insurance such as Medicare (i.e. MaineCare). Most major hemophilia factor manufacturers offer programs for patients who have lost insurance coverage and need a short term source of factor, the programs need to be signed up for in advance and renewed annually and are based on your continued use of one particular brand of factor concentrate. You can search for these programs on the Internet, contact the patient services number found on the medication packaging or information, or ask your HTC social worker or nurse to assist you in enrolling.

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