Hemophilia Advancements and the Evolution of Patient Management

Specialty Pharmacy TimesNovember/December
Volume 9
Issue 7

The coordinated-care models and high-touch services provided by specialty pharmacies put them in an ideal position to support patients with hemophilia now and in the future.

Hemophilia, a genetic condition in which a person’s blood does not clot properly, affects an estimated 20,000 patients in the United States. It is a disease that presents many challenges for patients and caregivers, but with proper treatment, education, and professional support, patients can lead long, healthy lives. Decades of research have progressed clinical advancements in treatment, dramatically increasing the life expectancy of these patients. At the same time, innovations are continuing to make managing symptoms and treatments more practical.


Hemophiliac patients lack a key blood clotting protein: This is factor VIII for hemophilia A and factor IX for hemophilia B. Hemophilia A is approximately 4 times as common as hemophilia B. Severity levels of the condition vary from person to person, so that someone with mild hemophilia may only experience prolonged bleeding after a significant wound or surgery. For patients with severe hemophilia, spontaneous bleeds, often from the nose or in the joints and muscles, present the biggest threat.

Traditionally, hemophilia has been treated through replacement therapy, which involves intravenous (IV) injections of whichever clotting factor protein the patient lacks. When a bleed occurs, the patient injects the clotting factor and the bleed typically stops when enough clotting factor reaches the source of the bleed. Patients with severe hemophilia may also be on a routine preventive treatment regimen known as prophylaxis. These injections are required to keep clotting factor percentages at therapeutic levels.

Replacement therapy is life-changing for patients, and a breakthrough in hemophilia treatment came with the development of recombinant factor products. In the early 1900s through the 1980s, patients were treated with factor products derived from human blood. During the 1980s, however, some products were not properly screened for contamination. As a result, mass amounts of patients became infected with HIV and hepatitis C. This crisis sparked the development of recombinant factor products, which use purified genetic material from multiple sources to guarantee a clean supply. Unfortunately, since these products will never be innately “human,” 15% to 30% of patients with hemophilia A and 2% to 5% of patients with hemophilia B develop inhibitors, or antibodies, so that the recombinant factor products don’t work. In these cases, doctors must either use larger doses of clotting factor or pursue different factor sources. Today, researchers continue to study new ways to combat these antibodies.

Although the development of replacement therapy and recombinant products has made coping with hemophilia more manageable, patients with hemophilia still hope for more innovative treatment options. In recent years, numerous clinical advancements have lightened the burden that treatment places on the lives of patients and their caregivers, allowing them to gain control of their illness.

In-home treatments were an empowering advancement that enabled patients and caregivers to have the products and tools they needed to store, prepare, and infuse treatments in the comfort of their homes. Not only does this allow patients to be more self-sufficient, but it also ensures they receive treatment quicker when experiencing a bleed. This significantly reduces the risk of complications and the number of trips to the doctor or emergency department. Still, researchers are continuously seeking out methods to administer factor products less invasively, as well as extend their half-life so patients can administer them less frequently.

For mild hemophilia cases, alternatives to IV infusions, including oral therapies and nasal sprays, can be used to prevent the breakdown of blood clots or to stimulate the release of more clotting factor in the body. These products are often used proactively, such as before dental work, and have facilitated significant improvements in adherence.

Currently, there is growing excitement for clinical trials using genetic insertion. Gene therapy has been a focus in hemophilia for decades, but researchers are finally beginning to see marginal success. Some clinical trial patients’ factor levels have risen and remained steady for months following treatment, while others experience a drop off over time. Although it is too soon to determine how effective gene therapy will be in the long term, a handful of patients have experienced life-changing results.


Although hemophilia has no cure, health professionals, and specialty pharmacies in particular, can provide a host of resources to help patients and their families better manage treatment while still living full lives. First, it’s important to understand some of the pain points for patients with hemophilia.

Since hemophilia is genetic, it is identified early in life and can be diagnosed in multiple members of a single family. In turn, these families may feel consumed with treating the illness, as it takes collaboration with a comprehensive support team to help patients and caregivers manage. This team can include, but is not limited to, hematologists, physical therapists, dentists, pharmacists, social workers, teachers, hemophilia treatment centers (HTCs), and other health care professionals.

Although clinical advancements have made treatment more practical, most patients still require IV infusions in some capacity. This is a task that requires skill and can be traumatic for children, especially while experiencing an active bleed. HTCs and hematologist offices administer infusions and coach patients and caregivers on the basics of self-infusion for years before transitioning them to at-home treatment.

Medication logistics can also pose issues for patients. Treatments must be stored in adequate refrigeration, which makes traveling a challenge. Furthermore, patients may have trouble obtaining the correct dosage for their treatment plan. Clotting factor products are manufactured in batches and each vial can hold a varying number of units. In a process called assay management, pharmacists calculate the number of units they have on hand and determine which vial must be sent to the patient to closely match the prescribed dosage.

Although these challenges can seem daunting, specialty pharmacies play an integral role in helping patients overcome them. In addition to facilitating quick access, specialty pharmacies synchronize with all parties on the patient’s care team to help deliver clinically coordinated care.

Specialty pharmacies can provide supplemental education on IV techniques until the patient or caregiver feels comfortable infusing on their own. They can also closely support the patient while directly communicating with the hematologist to discuss potential changes with the care plan. At the same time, pharmacists can educate family members on how to identify potential challenges and how to proactively address them. Beyond aiding with treatment, specialty pharmacies act as a bridge to local support services. This can range from financial assistance to mental health services, as patients with hemophilia may struggle with depression and anxiety.

Specialty pharmacies also offer solutions to facilitate at-home care. US Bioservices, for example, recently launched a pilot program in collaboration with a national payer to provide patients with a temperature-controlled storage and tracking unit for their home. The system, called myCubixx, maintains optimal inventory and temperature levels and requires patients to input bleed and dosage information each time the unit is opened. These real-time data are sent back to the care team and payer, which enhances clinically coordinated care and helps patients and caregivers better manage the illness.


Although it’s clear that hemophilia treatment has already significantly evolved, in addition to gene therapy trials, some of the most recent developments include the use of monoclonal antibodies to replace missing clotting factors and the use of pegylation to continue extending the half-life of factor products.

As new clinical advancements are discovered, all stakeholders within the health care continuum must be prepared to evolve as well. The coordinated-care models and high-touch services provided by specialty pharmacies put them in an ideal position to support patients with hemophilia now and in the future.

Related Videos
Practice Pearl #1 Active Surveillance vs Treatment in Patients with NETs
© 2024 MJH Life Sciences

All rights reserved.