The Surprising Rare Disease That Tore Through the Royal Family

If you know anything about hemophilia, it’s probably that the condition was rampant in the British royal family in the 19th and early 20th centuries. Queen Victoria, who had nine kids, was highly likely to have been a carrier, passing it down through her enormous clan as she arranged advantageous aristocratic marriages all over Europe for her children and grandchildren.

The clotting disorder—if someone had severe disease, bleeding could not be controlled even after minor injuries—killed her son Leopold, Duke of Albany, at age 30 after he slipped and fell. Two of Queen Victoria’s daughters were carriers (the disease is carried by women and manifests mostly in men), and her 2-year-old grandson, Friedrich, took a fall and died from internal bleeding. The disease showed up in her great-grandchildren as well, in at least nine royal descendants in total, per an article in the Journal of Thrombosis and Haemostasis. “The affliction, commonly known as the ‘Royal disease,’ spread as Victoria’s heirs married into royal families across Europe, decimating the thrones of Britain, Germany, Russia, and Spain,” Science Magazine wrote.

While doctors figured out it was hemophilia, the exact type was finally confirmed in 2009. First, a team of Russian geneticists published a DNA analysis of burnt bones found in a grave. They compared it to 117-year-old blood known to belong to the Romanovs, the Russian royal family who were murdered and tossed into a pit in 1918 during the Russian Revolution. The remains were those of Prince Alexei and his sister Princess Maria, the two children of Tsar Nicholas II and his wife Empress Alexandra, whose bodies had never been recovered. Alexandra was a granddaughter of the queen.

Then they analyzed the DNA again and confirmed that Prince Alexei had “a rare and severe form of hemophilia called hemophilia B or Christmas Disease,” the researchers wrote, assumed to be the same one as his relatives. “The mutation occurs in F9, a gene on the X chromosome that encodes blood coagulation factor IX.” When people have this and other genetic mutations affecting different clotting factors, their blood’s ability to clot, or even form a scab over a wound, is compromised. In severe cases, even a minor injury can be lethal.

Below are some other milestone moments in the history of the disease, from the Hemophilia Federation of America, a nonprofit dedicated to patient advocacy:

1,000 A.D.: The first known incidence of the condition occurred when two babies (of sisters in a single Jewish family) died after being circumcised.

1791: A Virginian named Isaac Zoll, regarded as the first American with hemophilia, dies at 19 from a minor cut on his foot.

1943: Advances in blood transfusions raise the life expectancy for someone with severe hemophilia to age 20—the plasma is transfused to provide the missing clotting factor. Other treatments include leg braces, compression and bed rest.

1960s: A period of intense research, several advances were made in treatment, including the discovery and manufacture of cryoprecipitate, a clotting factor extracted from plasma that patients could eventually use to stop bleeding. Because they could use less of it, according to hematology.org, treatment was quicker, people could begin home administration, and many patients begin to have an improved quality of life.

Early 1980s: The AIDS virus contaminates the blood supply, and the clotting factor made from blood was likewise widely contaminated. Yet hemophilia patients, repeatedly reassured of the safety of the blood supply and these products, kept using them. Because of these assurances and other reasons, many of them contracted AIDS.

1985, Ryan White, a 13-year-old with hemophilia who was infected with the AIDS virus from a transfusion, tells his story, and inspires greater understanding and compassion for people with AIDS; and raised awareness of the clotting disorder. He died at 18 of AIDS-related complications.

1995: The financial and emotional toll on families of hemophiliacs with AIDS was immense. After years of advocacy by the community and lawsuits against pharmaceutical manufacturers and the Federal government, the Institutes of Medicine releases a report analyzing what went wrong during the AIDS crisis that led to tainted blood and blood products. It also made recommendations so something like that never happens again.

1997: A safer clotting factor (one not made from human blood) for one kind of genetic hemophilia mutation becomes available. More for other types eventually follow.

1998: President Clinton signs “The Ricky Ray Hemophilia Relief Fund Act,” named after a boy with hemophilia who died of AIDS from tainted blood products. It awarded $100,000 to AIDS patients who contracted AIDS due to contaminated clotting factor products. This followed years of stalled negotiations between hemophilia organizations and the Federal government for patient compensation.

2010: With the passing of the Affordable Care Act, lifetime caps on reimbursement and denial of coverage for preexisting conditions were lifted, in addition to other factors helping people living with hemophilia, which is a lifelong condition.

2020s: The focus shifts to treatments to prevent the joint damage that may result from internal bleeding, according to hemophilia.org, as well as several newly approved medications that help the blood coagulate.

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