Experimental methods are currently being investigated as possible breakthroughs for curing bleeding disorders.
Researchers are working on a method to insert better functioning factor VIII or factor IX genes into the cells of people with hemophilia so their blood will clot more effectively. It is hoped that gene therapy will lead to patients having fewer bleeding episodes. Gene therapy might eventually help people with hemophilia begin producing their own clotting factor, thereby removing or at least lessening their dependence on weekly infusions. With this advance, there exists the potential for someone born with severe hemophilia to eventually have significantly milder symptoms.
This page contains information related to people and families living with bleeding disorders.
Depending on the severity of the underlying bleeding disorder, bleeding episodes may be frequent to rare or only occur with surgery or other procedures. When possible, prevention of bleeding is the goal in managing patients with a bleeding disorder. However, when bleeding does occur, it is important to recognize the signs and symptoms at the earliest possible time and treat it appropriately. If you're not already, you'll soon be an expert at spotting and treating bleeds quickly.
Common bleeds, such as bruises, nose and mouth bleeds generally do not require emergency medical attention. However, if a person with a bleeding disorder has a bleed and is not on a home therapy program, he or she should always promptly consult with a doctor of HTC to determine whether treatment is required.
Depending on the severity of the underlying bleeding disorder, bleeding episodes may be frequent to rare or only occur with surgery or other procedures. When possible, prevention of bleeding is the goal in managing patients with a bleeding disorder. However, when bleeding does occur, it is important to recognize the signs and symptoms at the earliest possible time and treat it appropriately. If you're not already, you'll soon be an expert at spotting and treating bleeds quickly. Common bleeds, such as bruises, nose and mouth bleeds generally do not require emergency medical attention. However, if a person with a bleeding disorder has a bleed and is not on a home therapy program, he or she should always promptly consult with a doctor of HTC to determine whether treatment is required.
The five major sites of serious bleeding episodes in hemophilia that threaten life, limb or function are intracranial or head bleeds, neck or throat bleeds, abdominal bleeds, kidney or bladder bleeds and ocular (eye) bleeds. All of these bleeds require a call to your doctor, immediate intervention or a trip to your local emergency room.
There are several types of bleeding disorders that affect women. von Willebrand disease (VWD) is the most common inherited bleeding disorder and may affect up to 2.5 million American women. Women may also be "symptomatic carriers" of hemophilia, meaning that in addition to carrying the gene, they also exhibit symptoms similar to mild hemophilia. All of the rare factor deficiencies, which include factor I, II, V, VII, XI and XIII, can also result in bleeding among men and women.
Aside from the fact that women have similar symptoms to men with bleeding disorders, they can also experience added obstetric and gynecological complications. VWD and other bleeding disorders are particularly troublesome for reproductive-aged women. Heavy and prolonged menstrual bleeding, also known as menorrhagia, can lead to serious complications if left untreated. Other common symptoms include recurrent nosebleeds, easy bruising, bleeding from the digestive or urinary tract and excessive bleeding from the mouth or gums.
Some doctors may not be familiar with bleeding disorders affecting women, making a definitive diagnosis elusive. It is common for bleeding symptoms to be attributed to other causes or to simply go unexplained. The troubling aspect to this problem is that non-surgical treatments are available for these conditions. In cases where a woman with a bleeding disorder (or symptomatic carrier) becomes pregnant, she should see an obstetrician as soon as possible. This will ensure that the doctor can consult with the local hemophilia treatment center to provide pre- and postnatal care for the woman and her baby. Decisions about what medical and surgical options to pursue should be based on personal preference, family planning goals and severity of bleeding problems.
In 2000, the National Hemophilia Foundation (NHF) launched a new education program, "Project Red Flag (PRF): Real Talk About Women's Bleeding Disorders." PRF is a national awareness campaign to target undiagnosed women with bleeding disorders and their doctors. The campaign includes public outreach, grassroots community efforts, professional education programs and publications. To learn more about PRF visit the NHF Web site at www.projectredflag.org.
Women who suspect they may have a bleeding disorder should contact NHF for information about where to go for help and what to discuss with a doctor. Information and referrals to healthcare providers are also available through HANDI at (800) 424-2634 or email@example.com.
People with bleeding disorders face life-long physical, psychological, financial, and employment challenges. How well they meet these challenges depends on many issues. These include the severity of their disorder, the quality and availability of medical care, their level of insurance coverage and ability to pay for care, and the strength of their personal support networks.
Parents raising a child with a bleeding disorder have many issues to address. Some are practical concerns, like health insurance coverage and choosing the best treatments for the child. Another concern is how to deal with the child's emotional responses to living with a chronic health problem. If the child with a bleeding disorder has siblings, they too will have emotional responses to living in a family with a member who has a chronic health problem. Finally, one must balance helping the child lead as active a life as possible with protecting his or her well-being.
For adults and children alike, the physical hardships and limitations imposed by bleeding disorders often have emotional and social impacts. A hospitalization or a period of limited mobility is stressful as well as disruptive to school, work, and family life. Planning one's life around health concerns or making job decisions based on access to adequate health insurance also can have a profound personal and practical impact. Adults who have a severe bleeding disorder sometimes encounter discrimination by prospective employers. These are just some of the issues faced by people with chronic health conditions and their families.
There are support groups run through treatment centers and chapters where people with bleeding disorders can talk about the issues they confront in their daily lives.
Did you feel as if your world turned upside down when you first learned that your child had a bleeding disorder?
It's completely natural. It takes time to adjust to the shock of hearing the diagnosis. It's also normal to feel denial, anger, or guilt at first. But then you will at last accept the diagnosis.
This section contains a tremendous amount of information for parents of children with bleeding disorders. Additional information is available through HANDI. As you learn more, you will begin to learn how to take control of your child's health.
NHF has an extensive list of publications available for individuals and families with bleeding disorders. Click here for a list of publications.
Because almost all people with hemophilia are male, the words "he" or "him" are used to refer to children with hemophilia. This does not suggest that there are no girls who have hemophilia (in fact, there are).
The following are some basic tips for parents and providers of newborns and toddlers who have been diagnosed with hemophilia, von Willebrand disease or another bleeding disorder.
Raising a child is one of life's major challenges. A child with hemophilia adds even more complexity. This section answers some frequently asked questions and encourages parents to trust their instincts. For more information or to find out how to contact other parents of affected children, call NHF at 800-42-HANDI.
Always remember that "normal" is different for each child. If you have concerns about your child's development, talk with his child care providers, teachers, doctor and/or HTC.
Crying is one of the ways your baby communicates. Before long, you will be able to tell the difference between "hungry" cries, "sleepy" cries, "wet" cries, etc. Pay special attention to the "hurt" cries. Spontaneous bleeds are rare in infants, but when they do occur, they cause discomfort. When this happens the baby cries, is fussy, and avoids the hurt limb. If you think your baby has a bleed, consult your doctor or HTC.
During infancy, babies learn whether to trust the world. Every time he is fed when he is hungry, comforted when he is scared or hurt, and changed when he is wet, he learns the world is safe and the people around him are looking out for him. When you attend to your crying baby, you are giving him what he needs, teaching him the world-at least his little part of it-is a friendly place that hears and responds to him.
Preschool children are egocentric and possess "magical thinking." In other words, they think everything happens because of them, and they think their thoughts have the power to make things happen. For instance, a preschooler may think he has to take factor treatment as punishment for being bad. He may ignore symptoms of a bleed, thinking that if he wishes hard enough, it will magically go away.
Offer your child easy-to-understand information about hemophilia and remind him that factor treatments stop the bleeding and help him feel better. Explain how the treatments make the pain go away so he can play and have fun again.
Avoid threatening your child with factor treatment, e.g. "If you don't cut that out you'll have to get a shot." Instead, help your child understand that some activities are more likely than others to cause bleeding. Even though a preschool child can tell you if he is hurting, it is still important to keep an eye on him for symptoms of bleeding such as limping, holding one limb in a "bent" position, etc.
During the preschool years, you can save your child and yourself a lot of frustration by avoiding questions with "yes" or "no" answers, when there is no choice. For instance, rather than asking your child, "Shall we go to the doctor for your treatment?" you might say, "We are going to the doctor to stop the bleed so you'll feel better. Which toy or lap activity would you like to take to the doctor's office?"
By the time they reach school age, children are generally capable of thinking logically and seeing cause and effect. A school aged child will be able to report when he has a bleed. He will also start to understand that certain activities are more likely to cause bleeds than others and can be encouraged to be cautious about those activities.
At this age, the child also start to worry about adult feelings. If you react to his bleeds with anger, fear, and frustration, he may try to "protect" you by not telling you he is bleeding until the pain becomes hard to bear.
Respond to bleeds in a matter-of-fact, reassuring way. For instance, you might say to your child, "I'm sorry you're hurt, and I'm glad you told me you had a bleed. Let's get your treatment started so you can feel better soon."
During this stage, it can be especially easy for parents to set too few or too many limits. Permissive parents may feel sorry for their child and try to "make it up to him" by not setting appropriate limits. Protective parents may set too many limits and monitor their child's every move in an effort to keep him safe. School-aged children need both clear and consistent rules and the freedom to develop their own interests and abilities. For instance, establish a rule that your child and his playmates may not hit each other. As long as no one is hitting, avoid jumping in to settle every argument that comes up. Let your child experiment with different ways to resolve conflict.
School-aged children with hemophilia belong in regular classrooms and take part in almost every activity with peers.
By the time he is a teenager, your child will probably know almost as much about hemophilia as you do. If he is on a home treatment program, he is doing his own factor infusions. He may ask to go to doctor's appointments alone or to speak privately with the care team. If he doesn't ask, offer him the opportunity, so he learns to take increasing responsibility for his own health.
During his teenage years, your son is trying to figure out who he is and what he wants in life. The opinions of his friends are very important to him. He may be upset if his friends think the factor treatments are "gross" or tease him for choosing not to participate in some activities. Having friends his age in the hemophilia community helps him feel less different. Contact your HTC or the local chapter of the National Hemophilia Foundation to get information about activities and events for teenagers with hemophilia in your area, or ask your HTC to put you in touch with other families who have teenagers with hemophilia.
If your teenager seems unusually upset, if his behavior changes dramatically, or if he talks about wanting to hurt or kill himself or someone else, professional counseling is in order. Talk to trusted friends, the social worker at the HTC, or ask your doctor for a referral to a counselor who is skilled in working with teenagers.
In some patients with hemophilia, the immune system produces an antibody that inhibits the action of replacement blood products and prevents clot formation. This antibody is known as an inhibitor. The presence of an inhibitor makes the treatment of bleeding episodes more difficult. An inhibitor destroys the clotting factor before it has a chance to stop the bleeding. The reason inhibitors develop is unknown, but it is not related to the number of treatments your child receives. Inhibitors usually occur in the first 5-10 years of life.
For more information, please visit our inhibitors section by clicking here.
One of the major complications of hemophilia is joint damage or "hemophilic arthropathy" that can occur when there is bleeding into joints. This is the most common clinical complication of hemophilia. Bleeding into knees, elbows, ankles, shoulders, and hips can lead to chronic swelling and later joint deformity. Many people with severe hemophilia can suffer from painful, debilitating joint bleeds and associated mobility issues that severely impede their quality of life.
In the late 1970s-and 80s people with hemophilia were treated with blood products derived from thousands of donors. When the U.S. blood supply became contaminated by HIV, the products used as treatment for thousands of people with bleeding disorders also became contaminated. More than 50% of the hemophilia population became infected with HIV prior to 1985. The tremendous impact of HIV/AIDS on the hemophilia community is still with us. So many families have lost loved ones. This devastation has placed an emotional, health, ethical and financial burden on affected families and the entire community as well.
The tragedy of the HIV/AIDS crisis gave rise to heightened vigilance surrounding the safety of the nation's blood supply and blood products. HIV transmission by factor concentrates in the United States has not occurred since 1986 due to viral inactivation methods used in manufacturing blood products. While new screening methods and product processing procedures are now in place, continued improvements and steadfast oversight are needed to ensure that this tragedy is not repeated.
Hepatitis viruses were also transmitted in blood products used by persons with bleeding disorders. Today's blood products are much safer than those of the past. As of 1997, there have been no reports of hepatitis C transmission through clotting factor treated with newer processes.
There are six main hepatitis viruses, which cause problems ranging from mild chronic infections to liver failure. Almost 95% of all hepatitis cases are hepatitis A, B, or C. Some hepatitis viruses can be asymptomatic for many years and may never become chronic. Others can progress to liver cancers, end stage liver disease, and other life threatening conditions.
Symptoms may include fatigue, nausea, vomiting, joint aches, liver tenderness and enlargement, and weight loss. For more information about hepatitis, call HANDI for a copy of the publication "Understanding Hepatitis".
Transmission of hepatitis A remains a risk for people with bleeding disorders who use plasma-derived products. This is because hepatitis A virus can resist the viral inactivation methods used to manufacture plasma products. Hepatitis A is preventable. MASAC recommends all patients with bleeding disorders receive a hepatitis A and B vaccination. Currently, there is no vaccination for hepatitis C.
Some gene therapy research trials have been performed in humans with mixed results. The future for gene therapy in hemophilia is continuing albeit at a moderate pace. There are many projects continuing in animal models. Improved long-term expression of the new genes will require the development of better vectors (the means of delivering the new genes into the cells). For more information, call NHF's toll free information number (1-800-42-HANDI) for a packet of information about gene therapy for hemophilia.
Several new technologies are also being implemented to advance hemophilia treatment. These new technologies, once used to destroy viruses in blood, have been successful in virtually eliminating the risk of contracting HIV or hepatitis C from clotting factor today. Pharmaceutical companies are continuing to investigate genetically manufactured product alternatives derived from little to no human blood products. New products have consistently been developed which have an even higher purity than have ever been available before.
In 1973, the National Hemophilia Foundation launched a two-year campaign to establish the creation of a nationwide network of hemophilia diagnostic and treatment centers. The idea was based upon providing a range of comprehensive services for patients and families within one treatment facility. Today, there are about 141 federally-funded treatment centers and programs across the country.
The concept of comprehensive care is to treat the whole person and the family, through continuous supervision of all the medical and psychosocial aspects of bleeding disorders. Comprehensive care is total care because every facet of the person is addressed, including their physical, emotional, psychological, educational, financial and vocational factors. The development of comprehensive care over the past 30 years, has greatly improved the quality of life for people with bleeding disorders, helping them to be more independent and productive. The treatment center care network has also lowered patients morbidity and provided cost-effective care in the long term
Having a chronic disease means spending a lot of time and energy negotiating the health care system. The hematologists, nurses, psychosocial professionals and physical therapists not only help consumers with their medical care issues, but also lend tremendous emotional support. Many people with bleeding disorders use the resources of their hemophilia treatment center (HTC) for many years because the staff understands their unique needs.
Hemophilia treatment centers are located in cities across the United States. To find the one closest to you, click here. To request a printed copy of the U.S. Hemophilia Treatment Centers Directory, contact HANDI at 800-42-HANDI or firstname.lastname@example.org
The treatment center not only provides specialty care but can also act as a resource to your regular family physician or dentist.
NHF's prestigious Medical and Scientific Advisory Council (MASAC) was formed to issue recommendations and advisories on treatment, research and other general health concerns of the coagulation disorders community. Since its inception in 1954, MASAC has issued over 400 communications covering a wide range of medical issues, from prevention and treatment to advocacy of continued research initiatives. Each year, MASAC establishes standard treatment guidelines which are often referred to by international experts, medical schools, pharmacists, emergency room personnel, insurance companies and many others.
MASAC is composed of physicians, scientists and other medical professionals with a wide range of expertise including coagulation disorders, blood safety and infectious disease. Members of the community, as well as chairs of the nursing, social work, and physical therapy working groups also serve on MASAC. MASAC usually meets three times a year to issue recommendations which are then forwarded to the NHF Board of Directors for approval.
For individuals with bleeding disorders, and especially those with hemophilia, treatment can be a tremendously heavy financial burden. In fact, the treatment of hemophilia ranks among the most expensive chronic diseases in the United States. New technology has led to remarkable advances in improving the safety of new blood products, but these technologies have come at ever-increasing costs.
It is difficult to separate these cost increases from the overall cost increase in healthcare nationwide; however, research and development for many of these specialized products come with a huge price tag. Current factor concentrates are among the most costly therapies in the world, with a total annual cost per person ranging from $60,000 to $150,000. Complications such as major surgery, undergoing immune tolerance for an inhibitor, HIV/AIDS and/or hepatitis treatments, can increase these costs exponentially.
The state of insurance reimbursement today is constantly changing to meet this competitive environment. Patients and medical professionals alike are finding the system difficult to manage, complex and often confusing. While organizations and treatment professionals can educate people to better understand insurance, it ultimately falls on individuals to manage their own healthcare reimbursement.
As a result, it has become vitally important for consumers to be well-informed about finance, reimbursement and healthcare issues. Consumers should understand their insurance policies and ask specific questions about drug coverage, drug costs, lifetime caps and exclusionary riders. People should not wait until a time of crisis before learning the rules of their health insurance policy.
The information contained on this site is provided for your general information only. The Cascade Foundation does not give medical advice or engage in the practice of medicine. In addition, the CFSA under no circumstances recommends particular treatment for specific individuals and in all cases recommends that you consult your physician or local treatment center before pursuing any course of treatment.
This information is provided free of charge for home care companies, manufacturers and the Hemophilia Treatment Center and members of the Arizona bleeding disorder community. It is intended to be used as a reference guide to educate and inform. Additional information will be added as needed.
The Board of Directors of the Cascade Foundation hope that this information will provide assistance in your research for the best possible care.