ITxM, Hemophilia Center of Western Pennsylvania team up for Bleeding Disorders Awareness Month
When you think of hemophilia, or bleeding disorders, what comes to mind?
March is Bleeding Disorders Awareness Month, and The Institute for Transfusion Medicine (ITxM) and the Hemophilia Center of Western Pennsylvania (HCWP) want all to know bleeding disorders exist, but the quality of life for these individuals is much better than in past generations.
Bleeding disorders are usually caused by a decrease or dysfunction of one of the proteins found in blood that helps control appropriate clot formation. Depending on the diagnosis and severity, affected individuals may experience a range of symptoms, including easy bruising, excessive nosebleeds, prolonged bleeding after surgery or trauma, joint bleeds, muscle bleeds and heavy menstrual cycles.
Although someone with a bleeding disorder cannot form blood clots as effectively as others, HCWP genetic counselor Michelle Alabek said blood disorders are “a very treatable condition now.”
“If patients have appropriate management and care plans in place with their providers, they can truly live happy, healthy lives,” Alabek said.
In most cases, bleeding disorders can be diagnosed by blood tests that measure the amount and function of blood clotting factors. Hemophilia A is a decreased amount of factor VIII, while hemophilia B is a decreased amount of factor IX. Testing can also determine the severity of a diagnosis, which is categorized as mild, moderate or severe. If there is a known family history, HCWP offers pregnant women who are carriers, or possible carriers of hemophilia, a cord blood kit that can be used immediately after birth to obtain a blood sample from the umbilical cord, which can then be tested.
Historically, hemophilia has been recognized as a disorder that affects males and can be passed on by females, due in part to how it is inherited. Because hemophilia A and B are X-linked inherited conditions, it means the genes that should make factor VIII and factor IX are located on the X chromosome. Males have one X chromosome and one Y chromosome, and therefore one copy of each of these genes. If a male’s one copy of the factor VIII or factor IX gene does not work, he will have hemophilia A or hemophilia B. Females have two X chromosomes, and two copies of each of these genes. If a female has one copy of the factor VIII or factor IX gene that does not work, and one copy that works, she traditionally is referred to as a carrier of hemophilia A or B.
“Until somewhat recently, the effect of being a carrier of hemophilia on females in a family has been quite under-recognized,” Alabek said.
Carriers can pass this gene on to their sons and daughters, and also experience a range of bleeding symptoms. Additionally, interpreting the testing for women can be more complex.
With a family history, results from a factor VIII or IX blood test are not enough; genetic testing provides a more definitive way to determine a female’s status. Because most bleeding disorders have a genetic cause, the role of the genetic counselor is to help patients and their family members understand a diagnosis, to facilitate genetic testing when warranted and to counsel at-risk family members.
Treatment for bleeding disorders involves replacing the deficient or dysfunctional factor and is typically done with infusion medication into a vein. Patients may choose from blood plasma derived factor products, or, more commonly, manufactured recombinant products. There are advancements in new drugs that have a prolonged half-life, which means patients may need fewer infusion treatments because the drugs remain viable longer.
There are two typical treatment regimens for patients, either on demand, when a bleeding episode occurs, or prophylactically, which helps keep factor levels in the normal range. Prophylactic treatment is recommended for more severe patients. With the exciting advancements of personalized prophylactic treatment, new research, clinical trials and multidisciplinary care, patients have more options than ever to live long, healthy lives.
HCWP, a subsidiary of ITxM, offers onsite, multidisciplinary, comprehensive care for patients with bleeding and clotting disorders and their families. Patients have access to physicians, nurses, social workers, a genetic counselor, a physical therapist, a research team, community connections, insurance help and a factor pharmacy program. Visit hcwp.net or call 412.209.7280 for more information.
HCWP offers a sleepover camp called Camp Hot-to-Clot for children and teens with bleeding disorders and their siblings. To find out more about Camp Hot-to-Clot, visit http://hcwp.net/camp/2017-information/, email CampH2C@itxm.org or call 412.209.7344.