Resources Archive - Tri-State Bleeding Disorder Foundation

Bleeding Disorders

ideasandpixels — Tue, 15 Nov 2022 05:59:19 +0000

Bleeding disorders result when the blood’s ability to form a clot at the site of blood vessel injury is impaired. Here you will find information on inherited bleeding disorders, such as hemophilia, von Willebrand disease and rare factor deficiencies.

Hemophilia A

Hemophilia A is the most common type of hemophilia.

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Hemophilia B

Hemophilia B is the second most common type of hemophilia.

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Bleeding Disorders in Women

Women can and do have bleeding disorders. Despite long-standing misconceptions about bleeding disorders in women, women’s voices and experiences are now being taken more seriously.

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Other Factor Deficiencies

There are ten clotting factors that are necessary in forming a blood clot. Deficiencies in factors VIII and IX are well known to most people, but what of the other factor deficiencies?

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von Willebrand Disease

Von Willebrand Disease is a bleeding disorder caused by a defect or deficiency of a blood clotting protein, called von Willebrand Factor.

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The post Bleeding Disorders appeared first on Tri-State Bleeding Disorder Foundation.

Hemophilia A

ideasandpixels — Tue, 15 Nov 2022 01:12:13 +0000

Overview

Hemophilia A is the most common type of hemophilia. It is also known as factor VIII deficiency or classic hemophilia. It is largely an inherited disorder in which one of the proteins needed to form blood clots is missing or reduced. In about 30% of cases, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation.

Approximately one in 5,000 males born in the United States has hemophilia. All races and economic groups are affected equally.

When a person with hemophilia is injured, he does not bleed harder or faster than a person without hemophilia, he bleeds longer. Small cuts or surface bruises are usually not a problem, but more traumatic injuries may result in serious problems and potential disability (called “bleeding episodes”).

Normal Levels

Normal plasma levels of FVIII range from 50% to 150%. There are different levels of hemophilia: mild, moderate, and severe, depending on the amount of clotting factor in the blood:

People with mild hemophilia have 5% up to 50% of the normal clotting factor in their blood. Most patients usually have problems with bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding. The first episode may not occur until adulthood. Women with mild hemophilia often experience menorrhagia, heavy menstrual periods, and can hemorrhage after childbirth.

People with moderate hemophilia about, 15% of the hemophilia population, have 1% up to 5% of the normal clotting factor in their blood. They tend to have bleeding episodes after injuries and some without obvious cause. These are called spontaneous bleeding episodes.

People with severe hemophilia about 60% of the hemophilia population, have <1% of the normal clotting factor in their blood. They have bleeding following an injury and may have frequent spontaneous bleeding episodes, often into their joints and muscles.

Genetics

Everyone inherits two sex chromosomes, X and Y, from his or her parents. A female inherits one X chromosome from her mother and one X chromosome from her father (XX). A male inherits one X chromosome from his mother and one Y chromosome from his father (XY). The gene that causes hemophilia is located on the X chromosome.

A woman who gives birth to a child with hemophilia often has other male relatives who also have hemophilia. Sometimes, a baby will be born with hemophilia when there is no known family history. This means either that the gene has been “hidden” (that is, passed down through several generations of female carriers without affecting any male members of the family) or the change in the X chromosome is new (a “spontaneous mutation”).

There are four possible outcomes for the baby of a woman who is a carrier. These four possibilities are repeated for each and every pregnancy:

1. A girl who is not a carrier
2. A girl who is a carrier
3. A boy without hemophilia
4. A boy with hemophilia

With each pregnancy, a woman who is a carrier has a 25% chance of having a son with hemophilia. Since the father’s X chromosome determines the baby will be a girl, all the daughters of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia.

Genetic counseling is available at most HTCs. These professionals have information to help you make family planning decisions.

Bleeding Disorder Treatment

In general, small cuts and scrapes are treated with regular first-aid: clean the cut, then apply pressure and a band-aid. Individuals with mild hemophilia can use a non-blood product called desmopressin acetate (DDAVP) to treat small bleeds. Deep cuts or internal bleeding, such as bleeding into the joints or muscles, require more complex treatment. The clotting factor missing (VIII or IX) must be replaced so the child can form a clot to stop the bleeding.

Some factor products are made from human blood products such as donated plasma. Others, called “recombinant factor,” are made in a laboratory and do not use human blood products. The Medical and Scientific Advisory Council of the National Hemophilia Foundation encourages the use of recombinant clotting factor products because they are safer. Your doctor or your HTC will help you decide which is right for you. All factor treatments are injected or infused directly into the veins.

In cases of severe hemophilia, doctors sometimes recommend giving a regimen of regular factor replacement treatments (a therapy called prophylaxis) to prevent bleeding episodes before they happen. The Medical and Scientific Advisory Council of the National Hemophilia Foundation recommends prophylaxis as optimal therapy for children with severe hemophilia A and B.

Notify your doctor or HTC if your child does not respond to the usual dose of factor. In rare instances, people can develop an inhibitor, to standard factor treatment. In the event this occurs, your doctor or HTC will work with you to develop a special plan of care.

The above information is courtesy of the National Hemophilia Foundation.

The post Hemophilia A appeared first on Tri-State Bleeding Disorder Foundation.

Hemophilia B

ideasandpixels — Tue, 15 Nov 2022 01:18:43 +0000

Overview

Hemophilia B is the second most common type of hemophilia. It can also be known as factor IX deficiency, or Christmas disease. It was originally named “Christmas disease” for the first person diagnosed with the disorder back in 1952.

It is largely an inherited disorder in which one of the proteins needed to form blood clots is missing or reduced. In about 30% of cases, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation.

Hemophilia B is far less common than Hemophilia A. Occurring in about one in 25,000 male births, hemophilia B affects about 3,300 individuals in the United States. All races and economic groups are affected equally.

Normal plasma levels of FIX range from 50% to 150%.

The post Hemophilia B appeared first on Tri-State Bleeding Disorder Foundation.

Bleeding Disorders in Women

ideasandpixels — Tue, 15 Nov 2022 20:29:41 +0000

Women can and do have bleeding disorders. Despite long-standing misconceptions about bleeding disorders in women, women’s voices and experiences are now being taken more seriously.

Symptoms of Bleeding Disorders in Women

You may have a bleeding disorder if you have one or more of the following symptoms:

Heavy menstrual periods
Bleeding for more than 7 days, from the time it began until it stopped
Flooding or gushing of blood, limiting daily activities such as work,
exercise or social activities
Passing clots that are bigger than a quarter
Changing tampon and/or pad every 2 hours or less on heaviest day
Being told you are “low in iron” or have anemia
Having bleeding symptoms and someone in your family has a bleeding
disorder, such as von Willebrand disease, or a clotting factor deficiency, such as hemophilia
Heavy bleeding from dental surgery, other surgery, or childbirth.
Frequent nose bleeds that last longer than 10 minutes
Bleeding from cuts lasting longer than 5 minutes
Easy bruising (weekly, raised and larger than a quarter)

If you have one or more of these symptoms, talk to your doctor or other healthcare professional.

The most common bleeding disorder in women and girls is von Willebrand disease (VWD).

It affects up to 1% of the U.S. population.

About von Willebrand factor

VWD is an inherited bleeding disorder. It is caused by a defect in or deficiency of von Willebrand factor, a protein the blood needs for clotting. VWD affects men and women equally, but women can have more symptoms due to heavy menstrual bleeding (periods.)

Mild Hemophilia in Women

Women and girls can also have mild hemophilia. Women who carry the gene for hemophilia can have factor levels that are low, resulting in a diagnosis of mild hemophilia.

Sometimes these women are referred to as “symptomatic carriers.” There are many rare factor disorders (link), including factor I, II, VI, VII, XI and XIII deficiency that affect men and women equally.

Although men and women with bleeding disorders have similar symptoms, such as bleeds into joints and tissues, women can experience added complications during menstruation, pregnancy, labor and delivery. Some doctors are not familiar with bleeding disorders in women, resulting in many of women going undiagnosed or misdiagnosed. Women with undiagnosed and untreated bleeding disorders risk serious complications.

If you have symptoms of a bleeding disorder, it is important to get a proper diagnosis and treatment from a specialist, called a hematologist. In the U.S., there is a network of hemophilia treatment centers (HTCs) that provide comprehensive care to patients with hemophilia and other bleeding disorders, and even some that have specialty services for women and girls. HANDI, our information resource center, can provide information on bleeding disorders and the nearest HTC.

The post Bleeding Disorders in Women appeared first on Tri-State Bleeding Disorder Foundation.

Other Factor Deficiencies

ideasandpixels — Tue, 15 Nov 2022 21:25:59 +0000

Deficiencies in Factors XIII and IX

There are ten clotting factors that are necessary in forming a blood clot.

Deficiencies in factors VIII and IX are well known to most people, but what of the other factor deficiencies? Not everyone is as familiar with these conditions because they are diagnosed so rarely. To date, deficiencies in eight of the lesser known coagulation factors have been documented in the medical literature. Many of these disorders were only discovered or described within the last 40 years.

Rare Factor Deficiencies Are Not Sex Linked

In most cases, rare factor deficiencies are not genetically sex-linked. They occur in equal frequency among men and women. By and large the gene is passed down in an autosomal recessive fashion. This means that when the factor deficiency is inherited from only one parent, the child will be a carrier of the condition, but usually not have symptoms. It is possible for people to inherit a gene from both parents, but this happens very rarely and usually means a more severe manifestation of the disease.

Obtaining a detailed family history is an important component to diagnosing the condition. Most people with rare factor deficiencies are best seen by hematologists at hemophilia treatment centers. Making a proper diagnosis for some of these rare conditions requires a quality lab and an experienced hematologist. To find a treatment center located closest to you, click here.

Not All Factor Deficiencies Have The Same Severity

Not all factor deficiencies have the same severity. Not everyone with these disorders needs treatment. However for those who do, the treatments available for people with rare factor deficiencies are not optimal. Many people in the United States with rare factor deficiencies need to take fresh frozen plasma, prothrombin complex concentrates (PCCs) or cryoprecipitate.

Since there are such a small number of patients with these conditions, there are few clinical studies regarding the use of products to treat them. Without solid clinical data, obtaining FDA approval for products is extremely difficult. Very few pharmaceutical companies will choose to invest the research dollars needed to produce such products for so few patients.

The above information is courtesy of the National Hemophilia Foundation.

The post Other Factor Deficiencies appeared first on Tri-State Bleeding Disorder Foundation.

von Willebrand Disease

ideasandpixels — Tue, 15 Nov 2022 21:31:09 +0000

Overview

Von Willebrand Disease is a bleeding disorder caused by a defect or deficiency of a blood clotting protein, called von Willebrand Factor. The disease is estimated to occur in 1% to 2% of the population. The disease was first described by Erik von Willebrand, a Finnish physician who reported a new type of bleeding disorder among island people in Sweden and Finland.

Von Willebrand Factor is a protein critical to the initial stages of blood clotting. This glue-like protein, produced by the cells that line the blood vessel walls, interacts with blood cells called platelets to form a plug which prevents the blood from flowing at the site of injury. People with von Willebrand Disease are unable to make this plug because they do not have enough von Willebrand Factor or their factor is abnormal.

Researchers have identified many variations of the disease, but most fall into the following classifications:

Type I: This is the most common and mildest form of von Willebrand disease. Levels of von Willebrand factor are lower than normal, and levels of factor VIII may also be reduced.
Type II: In these people, the von Willebrand factor itself has an abnormality. Depending on the abnormality, they may be classified as having Type IIa or Type IIb. In Type IIa, the level of von Willebrand factor is reduced, as is the ability of platelets to clump together. In Type IIb, although the factor itself is defective, the ability of platelets to clump together is actually increased.
Type III: This is severe von Willebrand disease. These people may have a total absence of von Willebrand factor, and factor VIII levels are often less than 10%.
Pseudo (or platelet-type) von Willebrand disease: This disorder resembles Type IIb von Willebrand disease, but the defects appear to be in the platelets, rather than the von Willebrand factor.

A Genetic Disease

Von Willebrand Disease is a genetic disease that can be inherited from either parent. It affects males and females equally. A man or woman with VWD has a 50% chance of passing the gene on to his or her child. There are no racial or ethnic associations with the disorder. A family history of a bleeding disorder is the primary risk factor.

VWD subtype I and II are usually inherited in what is known as a “dominant” pattern. This means that if even one parent has the gene and passes it to a child, the child will have the disorder.

VWD Type III von Willebrand disease, however, is usually inherited in a “recessive” pattern. This type occurs when the child inherits the gene from both parents. Even if both parents have mild or asymptomatic disease, their children are likely to be severely affected.

Diagnosis

Diagnosis of von Willebrand Disease can be difficult. Blood tests can be performed to determine the amount, structure and function of von Willebrand Factor. Since levels can vary, sometimes tests may need to be repeated. A person suspected of having von Willebrand Disease should be referred to a hematologist who specializes in the diagnosis and treatment of bleeding disorders. Usually, people with VWD bruise easily, have recurrent nosebleeds, or bleed after tooth extraction, tonsillectomy or other surgery. Recurrent nosebleeds are also a hallmark of VWD. Women can have increased menstrual bleeding.

Treatment

For minor bleeds, treatment may be unnecessary. There are a range of treatment choices that depend on whether the VWD is mild or severe.

Stimate® or desmopressin acetate (DDAVP), a nasal spray, is the treatment of choice for mild von Willebrand disease. Bleeding is usually controlled in individuals with mild von Willebrand disease by using this nasal spray to boost their own factor VIII and von Willebrand levels. DDAVP may be given to increase the amount of the von Willebrand factor long enough for surgery or dental procedures to be performed. DDAVP is a synthetic product that carries no risk of infectious disease.

For excessive bleeding, infusions of a factor VIII concentrate rich in von Willebrand factor, such as Humate-P®, Alphanate® or Koate DVI®, may be required. Humate-P, manufactured by CSL-Behring and Alphanate, manufactured by Grifols, are the only FDA-approved Factor VIII concentrate for use in von Willebrand Disease.

If trauma occurs or surgery is anticipated, desmopressin acetate can be given as a means of raising the von Willebrand factor level.

Aspirin and many of the drugs used for pain can aggravate bleeding because they interfere with platelet function. People who have von Willebrand disease can take acetaminophen for pain relief because it does not inhibit platelet function.

The National Hemophilia Foundation’s Medical and Scientific Advisory Council (MASAC) issued a treatment recommendation for von Willebrand disease in 1999.

To access this recommendation, click here. To receive a copy of this recommendation, call 1-800-42HANDI.

The above information is courtesy of the National Hemophilia Foundation.

The post von Willebrand Disease appeared first on Tri-State Bleeding Disorder Foundation.

Treatment Centers

ideasandpixels — Tue, 15 Nov 2022 06:41:03 +0000

Hemophilia Treatment Centers

Cincinnati Children’s Hospital Medical Center Hemophilia Treatment Center

Mail Location 7015
3333 Burnet Avenue Cincinnati, OH 45229-3039
HTC ID: 433 Region: Region V – East
Phone: (513) 636-4269
Fax: (513) 636-5599

University of Cincinnati Medical Center Hemophilia Treatment Center

3120 Burnet Ave Suite 202, Cincinnati, OH 45229

HTC ID: 434 Region: Region V – East
Phone: (513) 585-8222
Fax: (513) 584-1024

Ohio

Children’s Hospital Medical Center of Akron Hemophilia Treatment Center

One Perkins Square Akron, OH 44308-1062
HTC ID: 444 Region: Region V – East
Phone: (330) 543-8732
Fax: (330) 258-3220

Columbus Children’s Hospital Columbus Hemophilia Treatment Center

700 Children’s Drive Columbus, OH 43205
HTC ID: 436 Region: Region V – East
Phone: (614) 722-3240
Fax: (614) 722-3271

Dayton Children’s Medical Center West Central Ohio Hemophilia Treatment Center

One Children’s Plaza Dayton, OH 45404-1815
HTC ID: 439 Region: Region V – East
Phone: (937) 641-5877
Fax: (937) 641-5878

Forum Health, Youngstown Hemophilia Center Regional Referral Center

500 Gypsy Lane, 1st Floor Youngstown, OH 44501
HTC ID: 435 Region: Region V – East
Phone: (330) 884-4176
Fax: (330) 884-0509

Northwest Ohio Hemophilia Treatment Center The Toledo Hospital/Children’s Medical Center

2150 W. Central Avenue Toledo, OH 43606
HTC ID: 437 Region: Region V – East
Phone: (419) 291-2210
Fax: (419) 479-3258

Ohio State University Medical Center Hemophilia Treatment Center

M414 Starling Loving Hall 320 W. 10th Avenue Columbus, OH 43210
HTC ID: 432 Region: Region V – East
Phone: (614) 293-8183
Fax: (614) 293-7529

UHHS Cleveland University Hospitals Health System Pediatric Hematology

Mail Stop 6054 11100 Euclid Avenue Cleveland, OH 44106
HTC ID: 443 Region: Region V – East
Phone: (216) 844-3345
Fax: (216) 844-5431

Indiana

Indiana Hemophilia and Thrombosis Center

8402 Harcourt Road, Suite 420 Indianapolis, IN 46260
HTC ID: 440 Region: Region V – East
Phone: (317) 871-0000 Ext. 236
Fax: (317) 871-0010

Kentucky

Brown Cancer Center Hemophilia Treatment Center

529 South Jackson Louisville, KY 40202
HTC ID: 254 Region: Region IV – North
Phone: (502) 595-4582
Fax: (502) 562-4373

Norton Kosair Children’s Medical Center

200 E. Chestnut Street Louisville, KY
40492 HTC ID: 252 Region: Region IV – North
Phone: (502) 629-7750
Fax: (502) 629-7784

University of Kentucky Hemophilia Treatment Center

J457 Kentucky Clinic 740 South Limestone Street Lexington, KY 40536-0284
HTC ID: 255 Region: Region IV – North
Phone: (800) 333-7359
Fax: (859) 257-9822

The post Treatment Centers appeared first on Tri-State Bleeding Disorder Foundation.

Advocacy

ideasandpixels — Fri, 28 Oct 2022 19:31:52 +0000

Together, we fight for access to healthcare for the bleeding disorders community. We work together to ensure and enhance the quality and accessibility of comprehensive care and services for children and adults with hemophilia and related bleeding disorders through information sharing, public education and advocacy.

Locally

Each year, the Ohio Bleeding Disorders Council hosts Ohio Statehouse Day, where people affected by a bleeding disorder get to meet their state elected officials and voice their concerns about issues important to the Ohio bleeding disorders community. The OBDC is made up of the five chapters and eight Hemophilia Treatment Centers in Ohio.

Nationally

NHF’s Washington Days is an opportunity for people affected by inherited blood disorders to advocate for issues that are important to them. In 2021, Washington Days had more than 400 volunteer advocates from 45 states that met with legislators and staff to discuss federal funding for bleeding disorder programs and support policies that increase affordability of coverage and access to care.

Thank you to all of our families who traveled to Columbus, Ohio to advocate for our bleeding disorders community! You are making a difference!

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