Understanding Hemophilia

A hemophilia diagnosis is the start of a complex journey for patients and plan sponsors alike, with a range of treatments, challenges and potentially staggering costs ahead. Here are answers to some of the most important questions regarding the disease.

What is hemophilia?

Hemophilia is a type of bleeding disorder—a rare, lifelong condition characterized by a deficiency of a clotting protein necessary to control bleeding called factor. Hemophilia affects males almost exclusively, with a prevalence as high as 40,000 affected in the U.S., and ranges from mild to severe in nature.¹ Because it is a genetic disorder, hemophilia is usually inherited at birth and passed down through generations in the same family.

The two most common types of hemophilia are:

• Hemophilia A, caused by a lack of clotting factor VIII
• Hemophilia B, caused by a lack of clotting factor IX

Hemophilia A is roughly five times more common than hemophilia B. Approximately 35% of people with hemophilia A have the severe form, compared to 30% with hemophilia B.¹

When someone who does not have hemophilia suffers an injury that causes bleeding, twelve different clotting factors interact in a chain reaction that results in the formation of a blood clot. Because patients with hemophilia are missing one of the clotting factors in this chain, they bleed for a longer period of time. Even a seemingly minor injury can carry an increased risk for internal bleeding.

What are some of the challenges presented by hemophilia?

Hemophilia impacts the ways people live, work and play. Minor bumps and bruises can quickly turn into emergency events. Internal bleeding is a major concern and can cause life-threatening damage to vital organs. Fortunately, when properly managed, patients with hemophilia can enjoy the same activities as those who don’t have the disease.

A support network is particularly important for the effective management of children with hemophilia. For parents, efforts must be made to educate schools or daycares about the condition and plans must be devised to quickly manage bleeding episodes. Many opportunities exist within this community for patients, families and providers to network, sharing information and best practices with one another.

How is hemophilia treated?

Factor replacement therapies have been the primary method of treatment for patients living with hemophilia since the late 1960s. These products are either derived from plasma donations or mass produced in a laboratory, and then infused through an IV. Factor replacement is used to stop bleeding episodes in real time, but it can also be used prophylactically—with regularly scheduled infusions to prevent acute bleeding episodes—in patients with severe disease.

For patients with hemophilia A, Hemlibra^® is a monoclonal antibody that can provide prophylaxis using a weekly or monthly subcutaneous injection, although factor is still required to treat bleeding episodes.

Approximately 30% of patients with hemophilia A and 1-3% of patients with hemophilia B will develop an inhibitor over the course of their lifetime.² An inhibitor is an antibody that reacts negatively to the external introduction of clotting factors. This translates to complex patient journeys and a higher total cost of care, as multiple drugs and more frequent treatments are often needed.

What about gene therapies for hemophilia?

Gene therapies treat disease by editing or replacing a patient's underlying genetic code. With gene therapy, new genes can be added, deleted, turned off or even replaced. For hemophilia A and B, the genetic modification results in the patient producing their own factor VIII or IX respectively.

For hemophilia, gene therapies include Hemgenix^® (approved 2022) for hemophilia B and Roctavian^® (anticipated approval summer 2023) for hemophilia A.

It’s important to recognize that a large number of gene therapies available today are for ultra-rare diseases with little or no existing alternative treatment options. In comparison, hemophilia has a number of highly effective treatments available. While gene therapies may provide another innovative option for hemophilia treatment, they come with a price tag that can reach as high as $3.5 million for one dose. Also, hemophilia gene therapies aren’t always curative. At this time, they are not considered first-line treatment, rather an option for patients with the most severe, treatment-intense form of the disease.

What should plan sponsors know about how to address concerns around drug spend?

There is no one-size-fits-all solution for addressing hemophilia spend and, as every patient’s disease presents differently, costs can be incredibly difficult for plan sponsors to predict and manage.

The average annual cost of medication to treat hemophilia is more than $393,000 per patient.³ A number of patient-specific variables drive this high cost:

• Patients with severe disease have more frequent bleeding episodes, and each one requires treatment. These same patients are also eligible for prophylactic therapy.
• All hemophilia treatments are dosed by body weight; the more a patient weighs, the higher the dose required.
• Medications come in different vial sizes, so appropriate dosing calculations by therapy and for the patient’s weight need to be known and considered to avoid dispensing excess medication.
• Activity is encouraged to prevent spontaneous bleeding events, but activity comes with risk of injury that can trigger acute bleeding episodes requiring treatment.

If complications arise, such as the development of an inhibitor, then the annual price tag can exceed $1 million—not including gene therapies. 

This variability can often generate a high prevalence of waste and unnecessary spend. It underscores the need for an experienced specialty pharmacy partner to accurately calculate doses and dispense these types of medications. Doing so adds more precision and predictability to a therapy class that is otherwise difficult to manage—helping mitigate substantial waste and achieve significant savings.

Evernorth combines its best-in-class specialty pharmacy, Accredo, with connected management strategies to help deliver more benefit predictability and lower costs across this volatile therapy class. Some of the ways we can help plans sponsors include:

• New, self-service hemophilia reporting
• Therapy discounts across all hemophilia treatment options
• A robust care model for hemophilia patients and caregivers
• Assistance in navigating benefits coverage and utilization management for gene therapies