Hemophilia advances over the past few years have helped many people with this condition lead healthier lives. Researchers and doctors better understand the causes of hemophilia, so they can more successfully treat the disease. People who’ve had hemophilia for decades often marvel about how far treatments have come.

“I’ve been on Hemlibra (emicizumab-kxwh) since March 2017,” one MyHemophiliaTeam member wrote. “No treatable bleeds and no side effects — biggest advancement in 50 years. I’m 66.”

In addition to researchers’ greater knowledge of why hemophilia happens, technology has progressed, leading to improved therapies. To better grasp how the latest treatments were developed, it helps to take a look at the history of hemophilia.

Ancient Beginnings

Bleeding disorders were documented as long ago as ancient Egyptian times. Around the second century A.D., people began to recognize that bleeding issues may be inherited — writings from the Talmud refer to babies who died from bleeding issues during circumcision. This led some religious authorities at the time to say that infants could forgo the procedure if two of a baby’s brothers had died during circumcision.

Most scholars point to 1803 as one of the most pivotal years in hemophilia’s history. That year, Dr. John Conrad Otto published a paper identifying a bleeding disorder that mostly affected males and ran in families. He referred to people with the disease as “bleeders” and linked U.S. individuals with the disorder back to a shared relative who lived in New Hampshire in the 1700s.

Hemophilia Gets a Name

The condition finally got a name in 1828. That’s when a University of Zurich professor, Dr. Johann Lukas Schönlein, and his student, Friedrich Hopff, named the condition “haemorrhaphilia.” It was later cut down to “haemophilia” or, in the United States, “hemophilia.”

At that point, the life expectancy of people with severe hemophilia was about 11 years old. This was largely because effective hemophilia treatments didn’t yet exist.

A Royal Connection

Hemophilia was recognized among medical researchers in the early 1800s, but it didn’t yet receive widespread attention. Then Victoria was named the queen of England in 1837, and some of her descendants experienced some notable medical issues. As a suspected hemophilia carrier, Queen Victoria was believed to have passed the hemophilia B gene on to three of her children.

One son, Prince Leopold, died at age 30 after falling down. Two of his sisters, Alice and Beatrice, also carried the hemophilia gene. They and their kids married into other royal families in Europe. This led to hemophilia diagnoses in other countries, including Spain, Germany, and Russia. For this reason, hemophilia was referred to as the “royal disease” for many years.

Solutions to Transfusion Challenges

The life expectancy of people with hemophilia in the early 1900s was about 13 years old. Doctors used remedies such as supplementary oxygen, bone marrow, and snake venom to try to get blood to clot. Because blood couldn’t be stored for any length of time, transfusions weren’t yet common.

In 1937, scientists discovered that they could fix clotting problems by adding a substance called antihemophilic globulin to blood. This plasma didn’t contain platelets, so it led to faster clotting. Antihemophilic globulin is now referred to as factor VIII (factor 8 — you’ll usually see Roman numerals in a discussion of clotting factors).

Discovery of the Cause of Hemophilia A and B

In 1944, Alfredo Pavlovsky — a physician in Argentina — discovered that he could correct the clotting defect by transfusing blood from one person with hemophilia to another. This showed him that the two people had different protein deficiencies. One had hemophilia A, which is caused by an inadequate amount of blood clotting factor VIII. The other had hemophilia B, a result of having too little blood clotting factor IX (9). Early on, hemophilia B was called Christmas disease.

This discovery of hemophilia A and B led researchers to realize that blood products needed to contain either factor VIII or IX proteins when being infused into individuals with hemophilia. However, standard blood transfusions didn’t contain enough of these proteins to help people stop bleeding.

A breakthrough arrived in 1965, when Dr. Judith Graham Pool discovered that a leftover element in thawed plasma contained a lot of factor VIII. Infusing it into people with hemophilia led their blood to clot without the need for large amounts of plasma. Blood banks could easily produce and store factor VIII, so people with hemophilia began to get better access to the treatment option.

The HIV Crisis’ Effect on Hemophilia

Despite treatment advances, the outlook for people with hemophilia took a turn for the worse in the early 1980s, when human immunodeficiency virus (HIV) became more widespread. Before blood donations were tested for HIV, some of the U.S. blood supply was contaminated with the virus. As a result, 60 percent to 70 percent of people with severe hemophilia were infected with HIV. Plus, some of the blood supply also was contaminated with hepatitis C.

As scientists worked to find solutions, new treatments emerged to help people with hemophilia. In addition, more funding was given to hemophilia treatment centers, which provide support and care for people living with hemophilia.

FDA Approval of Synthetic Recombinant Clotting Factor

People with hemophilia depended on blood products for treatment, so the risk of contamination remained high into the early 1990s. Many of those risks disappeared when scientists discovered how to make factors VIII and IX without using blood.

In 1992, the U.S. Food and Drug Administration (FDA) approved the first recombinant factor VIII, a synthetic product that wasn’t made from human blood. Five years later, the first recombinant factor IX product gained approval. This major breakthrough in treating hemophilia led to better outcomes. Between 1999 and 2009, the median age of death from hemophilia in the U.S. rose to 54.5 years — half of people with the disease died before age 54.5, and half died after that age.

Introduction of Biologics and Gene Therapy

Researchers have been developing preventive treatments for hemophilia. In 2017, the FDA approved emicizumab-kxwh for hemophilia A. This biologic drug is given as a weekly injection and helps the blood clot.

One of the most recent advances in hemophilia treatment is gene therapy. This treatment instructs the body to make the missing clotting factor.

The FDA has approved two gene therapies for treating hemophilia:

• Valoctocogene roxaparvovec-rvox (Roctavian) for adults with hemophilia A
• Etranacogene dezaparvovec-drlb (Hemgenix) for adults with hemophilia B

Now that scientists better understand the causes of and treatments for hemophilia, people with this condition are living longer. Between 2010 and 2020, the median age of death from hemophilia in the U.S. was 65.5 years.

Scientists continue to strive for new treatments for hemophilia, which currently has no cure. If you aren’t sure which type of hemophilia treatment might be right for you, talk to your doctor about the available options and which might suit you best.

Talk With Others Who Understand

MyHemophiliaTeam is the social network for people with hemophilia and their loved ones. On MyHemophiliaTeam, more than 6,000 members come together to ask questions, give advice, and share their stories with others who understand life with hemophilia.

Have you ever researched historical facts about hemophilia? What surprised you the most? Share your experience in the comments below, or start a conversation by posting on your Activities page.