Hemophilia — an inherited bleeding disorder in which blood doesn’t clot normally — is treatable, and even more treatments may be on the horizon.
The chronic condition is marked by bleeding longer than other people, spontaneous bleeding, and bleeding into a joint after surgery or injuries. An untreated bleed can cause permanent debilitating pain, or death if it’s in a major organ.
There are two types of hemophilia: hemophilia A and hemophilia B. Proteins in the blood called clotting factors help stop bleeding, but people with hemophilia A have low levels of clotting protein factor VIII, while those with hemophilia B have a deficiency of clotting factor IX (FIX).
“It was once considered to be a disease that resulted in death usually in the second decade of life,” said Dr. Len Valentino, a hematologist and CEO of National Hemophilia Foundation (NHF), one of the nation’s leading patient advocacy organizations for the inheritable blood and bleeding disorders community. “But people with hemophilia now can live a full, enriched life.”
Hemophilia A is treated by replacing the missing protein, which allows the person with the condition to form clots, helping to reduce or eliminate the bleeds associated with hemophilia. Hemophilia B is typically treated with a concentrated FIX product, known as “clotting factor” or simply “factor.”
The therapies are infused intravenously through a port in the chest or a vein in the arm every few days. A subcutaneous monoclonal antibody, which has been in use for the past four years, makes the treatment far more convenient because it’s administered once or twice a month.
Most people receiving these treatments have a bleeding incident one to two times a year.
The biggest challenges for people with hemophilia are access to care and cost. Many patients struggle to afford premiums for comprehensive insurance coverage and out-of-pocket expenses for medication.
“They’re a disproportionate share, high-cost claimant, meaning we have 30,000 hemophilia patients in the country, and yet they sit on the top 10 to 15 of the high-cost claims list,” said Kollet Koulianos, M.B.A., the VP of payer relations at NHF. “It’s very expensive.”
Gene therapy clinical trials are underway, and Dr. Valentino says, so far, there are no significant safety or efficacy concerns.
“Patients don’t need to inject additional factor after the gene therapy begins to work, which is usually somewhere between two and four weeks after it’s administered,” he said, noting 40 to 50 percent of patients require steroids to control any immune response after they receive gene therapy, and they’ll need a lot of clinical follow up.
While gene therapy will likely be expensive, patients may choose this new treatment option.
“People may be likely to say, ‘I’m willing to do this because I want to have the opportunity to be living this normal life without hemophilia, and I also want to help advance treatments for future generations,’” Koulianos said.
NHF encourages patients to talk with their providers about potential therapies or treatments for their hemophilia.