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Hemophilia Through History

Hemophilia has been called “The Royal Disease” and “The Disease of Kings” due to its prominent role in modern European history. Queen Victoria, who was Queen of England from 1837 to 1901, was a carrier and passed the gene down to several of her children. Two daughters, Alice and Beatrice, were carriers and her hemophiliac son Leopold had children before dying. Between all the descendants, hemophilia was passed on to the Spanish, German and Russian royal families.

Arguably one of the most famous people with hemophilia in history was the Russian Tsarevich Alexei, son of Nicholas, the Tsar of Russia in the early 1900s, and Queen Victoria’s granddaughter Alexandra.

While the European royals may be at the heart of the most well-known events in the history of hemophilia, there are other examples:

The Talmud, a collection of Rabbinic teachings from the second century, exempts male babies from circumcision if two brothers had already died from the procedure. In addition, it noted that the baby boys needed to come from the same mother irrespective of the father. Later, it was also recognized that if a sister’s baby bled to death, that would also be considered in the decision regarding circumcision; hence the recognition that it was a sex-linked disorder.
12th century Arab physician Albucasis wrote about a family of men who died from bleeding after minor injuries.
In 1803 Dr. John Conrad Otto, a Philadelphia doctor, wrote about hemophilia, determining it was hereditary and affected males. In his research he traced it back three generations to a woman who lived near Plymouth, New Hampshire, in 1720.

Busted: The Truth Behind 12 Hemophilia Myths

Until a person with hemophilia bleeds to death from a scratch, he can claim royal heritage as a direct descendant of an English queen.

Not.

While these are very common (and very untrue) myths associated with hemophilia, they are but two of many circulating around what until relatively recently has been a mysterious ailment.

“Myths have arisen over the years because it is only surprisingly recently that we have been able to understand some of the genetic and clinical aspects of the disease, even though it has been recognized for centuries,” says Jim Fahner, M.D., division chief, Hematology/Oncology at Helen DeVos Children’s Hospital in Grand Rapids, Michigan. Couple that with its mercurial nature—people with hemophilia can go for extended periods of time feeling fine with no problems only to suddenly have a hemorrhage out of the blue—and it’s no wonder all kinds of strange theories have cropped up.

Test your knowledge about hemophilia or just read along…in either case, odds are you just might learn something.

Myth: Hemophilia affects only boys.

While most people assume hemophilia only affects boys, occasionally girls who are “silent carriers” can suffer bleeding symptoms as well. Though extremely rare, a daughter who is born to a father with hemophilia and a mother who is a carrier can actually inherit the severe form of the disease

Myth: A person can outgrow hemophilia A

“Sadly, not true,” says Dr. Fahner. “As a genetic disorder, the lack of clotting factor protein is ‘hard wired’ into the genetic make-up of those afflicted; so until gene therapy proves itself safe and effective, hemophilia cannot be ‘cured.’”

Myth: If a person with hemophilia gets a cut, he’ll bleed to death.

Highly unlikely. People with hemophilia do not bleed any faster or harder than those without the disease, they simply bleed for longer. Even so, superficial cuts or abrasions are generally not a cause for concern and a bandaid will suffice in most cases. For joint and muscle bleeds, apply usual first aid treatment including rest, ice, compression and elevation (or R.I.C.E). The real concern for serious bleeding is if internal organs and/or deep tissues, muscles and joints are hurt. After any injury, if in doubt, contact your treatment team.

Myth: Eating certain vitamins or foods can cure hemophilia.

Untrue. “Nothing can reverse the deficiency unless a patient is given factor,” says Lisa Mills, M.D., a board certified medical oncologist and hematologist at Summit Medical Group in Berkeley Heights, New Jersey. This myth may have begun over confusion with a Vitamin K deficiency that can cause similar severe bleeding problems. Vitamin K deficiency can be treated with supplements of Vitamin K, while hemophilia cannot.

Myth: Everyone with hemophilia has the same level of deficiency.

Nope. “Depending upon the specific genetic change or mutation in a given family, the severity of the deficiency or level of clotting factor in the blood varies from a severe deficiency to moderate to more mild forms of the disease,” says Dr. Fahner.

Myth: Family members can have different clinical severities of hemophilia.

No. Given that the same gene defect is passed down through the family, all members will have the same level of severity. Some may seem like they have milder or more severe cases depending on how active and/or accident-prone they are, but unless there has been a genetic mutation all family members will be identical in the severity they express. There are caveats to this, however: other factors may influence the severity seen in individuals in the same family, including the presence of inhibitors or other bleeding and coagulation disorders. In addition, if one family member gets an inhibitor, it raises the risk of other siblings getting one as well—although this risk isn’t absolute.

Myth: All forms of hemophilia involve a deficiency in clotting factor VIII.

Not true. Hemophilia A (also known as Classical Hemophilia and Factor VIII Deficiency Hemophilia) is the most common and is a deficiency in clotting factor VIII. However, Hemophilia B (aka Christmas Disease and Factor IX Deficiency Hemophilia) is—you guessed it—a deficiency in factor IX. Hemophilia C occurs from a lack in factor XI.

Myth: Everyone with hemophilia is a descendent of Queen Victoria.

False. While hemophilia did play a role in modern European history (see sidebar), it is an equal opportunity genetic disorder found in families of all races, creeds and national origins.

Myth: Patients with hemophilia always have a family history of the disease.

“A very important false,” says Dr. Fahner. “The gene defect responsible for hemophilia has one of the highest rates of spontaneous brand new mutations of any human genetic disorder. Some researchers estimate that as many as one-third of the cases of hemophilia are new mutations with no family history of the disease.”

Myth: Everyone with hemophilia will eventually get bad joints.

While this used to be very often the case, the good news is that, with safer and more readily available clotting factor concentrates, many people with hemophilia today will be able to prevent long-term joint injury and crippling arthritic changes. Key to this is patients receiving primary (preventative) prophylaxis where they are given a dose of factor to actually prevent a bleed rather than treating it once it has begun, starting before any joint damage has occurred.

Myth: It’s ok to wait until one sees something and really knows it’s a bleed before acting.

This is a big no in any situation. “Act immediately because especially in brain trauma it can be life and death,” says Dr. Mills. When in doubt, treat and then get it checked out.

Ultimately, with the availability of safe and effective replacement clotting factors hemophilia today is a very manageable and treatable disease. And that’s the truth.