History of Hemophilia

Although hemophilia has existed since ancient times, the majority of the advances in understanding the problem and its treatment have come within the past century. Here’s a look at hemophilia’s progression, from its earliest mention in the Talmud to modern day.

The Early Years
The first written reference to hemophilia dates back to the 2nd century, when a rabbi wrote in the Babylonian Talmud: “If she circumcised her first child and he died, and a second one also died, she must not circumcise her third child.”

Fast-forward one thousand years and Arab physician Albucasis became the first medical professional to describe the issue, writing in a medical text about a family in which the males died after a minor injury and suggesting cauterization as the best way to treat it.

Hemophilia continued to be observed in texts for centuries, but it wasn’t until the 1800s that doctors began to explore the science behind the problem. In 1803, Philadelphia doctor John Conrad Otto published a treatise about the “hemorrhagic disposition,” which he recognized as inherited and occurring in males. In 1828, it was first identified as “hemophilia,” a term used by University of Zurich student Friedrich Hopf.

The “Royal Disease”
When the United Kingdom’s Queen Victoria gave birth to her eighth child, Leopold, in 1853, it quickly became clear that he had hemophilia—despite the fact that Queen Victoria had no ancestors with the problem. Leopold died from bleeding in the brain at the age of 31, and two of Victoria’s daughters were discovered to be carriers as well, eventually passing hemophilia on to royal families in Spain, Russia, and Germany.

Perhaps the most famous royal to have hemophilia was Tsarevich Alexei, son of Alexandra Feodorovna (Queen Victoria’s granddaughter) and Nicholas II. Monk Grigori Rasputin was called upon to help heal Alexei, and as a result, made great inroads in influencing the Russian court. The distraction Alexei’s health issue caused for Nicholas II and the power Rasputin gained are credited in part with leading to the Russian Revolution in 1917.

The Modern Era
In 1840, English surgeon Samuel Lane was the first to treat hemophilia using a blood transfusion, a procedure that paved the way for modern-day factor treatments. Nearly a century later, doctors at Harvard University discovered that they could make blood clot by adding a platelet-free plasma that they called anti-hemophilic globulin. Shortly after, hemophilia A and B were distinguished as two separate health issues by a doctor in Argentina.

Although hemophilia had been known to exist for centuries, in the 1900s researchers really began to look at exactly what caused it — before this time, the common thought was that it was due to fragile blood vessels. Learning about the origin of the problem helped treatments move away from icing the joints and whole blood or fresh plasma transfusions, to the more-effective methods that exist today. A major breakthrough came in the mid-1960s when Dr. Judith Pool discovered that the slow thawing of plasma creates a cryoprecipitate that is rich in factor VIII. This made surgery a safer option for those with hemophilia.

The Facts Behind Factor
By the 1970s, factor treatments were commercially available, revolutionizing the life of people with hemophilia, who were now able to infuse at home instead of heading to the hospital. But the widespread use of factor created another problem. Without protocols to screen blood, much of it was unknowingly infected with HIV and hepatitis C. In the United States alone, about half the hemophilia population—estimates say as many as 10,000 people—contracted HIV from tainted blood.¹

Safety of factor improved drastically in the 1990s and synthetic versions were developed. The first recombinant factor IX products also became available. Additionally, prophylactic therapy was popularized in this decade, helping spare kids from the long-lasting orthopedic damage that can come from recurring bleeds.

The Future of Treatment
Just 70 years ago, the average life expectancy for someone with hemophilia was less than 30 years.² But now, according to the World Federation of Hemophilia, “with proper treatment, life expectancy for people with hemophilia is about 10 years less than that of males without hemophilia, and children can look forward to a normal life expectancy.”³

Research into experimental methods to treat hemophilia is ongoing. Gene therapy is one such method, with the hope that it will help those with this issue create their own clotting factor, lessening or even eliminating dependence on infusions. And a few years ago, researchers at Albert Einstein College of Medicine found that transplanted liver cells can cure hemophilia A in animal test subjects.

Since those first known writings about hemophilia circa 100 AD, there’s been an amazing amount of progress in the study of hemophilia, especially in the past several decades. What was once a sentence for a short and almost certainly painful life is now a manageable health problem that’s no longer shrouded in mystery and, thankfully, continues to become easier to treat and manage.

¹Cichocki, M. (2010, March 14). Hemophilia and HIV. Retrieved from http://aids.about.com/od/hemophilia/a/hemohiv.htm

²National Hemophilia Foundation. History of bleeding disorders. Retrieved from http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=178&contentid=6

³World Federation of Hemophilia. (2011, July). Frequently asked questions. Retrieved from http://www.wfh.org/index.asp?lang=EN&url=2/1/1_1_9_FAQ.htm#Life_expectancy