You may vaguely remember hearing about the history of hemophilia in your middle school classroom. Many European royal families had this rare bleeding disorder, starting with the British royal family in the 1800s, leading to the nickname “the royal disease.” This genetic bleeding disorder has often been discussed in history books.

For many people with hemophilia and their loved ones, understanding the history of hemophilia, as well as how it’s passed down from generation to generation, can help demystify the condition. In this article, we’ll explore the genetics of hemophilia through its influence on royal bloodlines.

The Genetic Basis of Hemophilia

Normally, after a break in the skin, certain proteins in blood work quickly to form a clot. This clot plugs any holes in your vessels and prevents you from bleeding too much.

Hemophilia is caused by mutations (changes) in the genes that provide the instructions for making clotting factor proteins. Clotting factor is a key player in the chain of events that lead to effective clotting and wound healing. In people with hemophilia, the blood doesn’t clot properly, leading to excessive bleeding after relatively minor injuries.

There are two types of hemophilia — hemophilia A and hemophilia B. Each is caused by a deficiency of a particular clotting factor. People with hemophilia A are lacking factor VIII (8), and people with hemophilia B lack factor IX (9). Both types of hemophilia are inherited (passed down) in the same way and have similar symptoms.

How Hemophilia Is Passed Down

Hemophilia is known as a sex-linked disorder. This means that it’s carried on the X chromosome. Everyone inherits a pair of chromosomes known as the sex chromosomes, X and Y, from each parent. Males are XY, and females are XX, according to the Centers for Disease Control and Prevention (CDC).

Males are much more likely to be affected by hemophilia, per the CDC. They have just one X chromosome, and if it has the hemophilia gene, they will have the disorder.

Females are usually carriers of the gene because even if one X chromosome is affected by the hemophilia gene, the other still works properly. Carriers won’t experience symptoms, but they can pass their affected X chromosome to their children.

Rarely, one of a woman’s two X chromosomes can become randomly inactivated, according to the World Federation of Hemophilia. This process is known as lyonization. If the single functional X chromosome carries the hemophilia gene, the disorder will develop.

The Chances of Passing Down Hemophilia

You may wonder how likely it is for parents to pass down hemophilia. According to HemAware, the magazine published by the National Bleeding Disorders Foundation, parents’ hemophilia status leads to these scenarios:

• If the mother is a carrier and the father is unaffected, each son has a 50 percent chance of developing hemophilia, and each daughter has a 50 percent chance of getting hemophilia or being a carrier.
• If the father has hemophilia and the mother is unaffected, no sons will have hemophilia, and all daughters will have hemophilia or be carriers.
• If the father has hemophilia and the mother is a carrier, each child has a 50 percent chance of having hemophilia. Each daughter also has a 50 percent chance of either being a carrier or developing hemophilia.

It’s important to note that not all mutations of the hemophilia gene are inherited. Sometimes, these mutations happen on their own.

Hemophilia in Royal Families

The story of hemophilia in European royalty begins with Queen Victoria of England. Born in 1819, Queen Victoria is believed to have been a carrier of hemophilia B. Symptoms of hemophilia had never been seen in her family before, which suggests this may have been a spontaneous mutation rather than an inherited one.

Queen Victoria’s Descendants

Queen Victoria unknowingly passed the hemophilia B gene down to her children, who then married into other royal families across Europe. Many of their offspring — Queen Victoria’s grandchildren — were then affected by this condition.

• Prince Leopold inherited hemophilia and died from a fall at age 30. He was the first in his bloodline to show symptoms of the disease.
• Princess Alice married into the German Grand Ducal family of Hesse. Her son, Freidrich, died at age 2 from complications of hemophilia.
• Princess Beatrice also carried the gene. Her descendants married into the Spanish royal family, passing this gene to their children.
• Princess Victoria passed the gene to her daughter Alix, who became Tsarina Alexandra of Russia.

Hemophilia’s Historical Impact

One of the most famous cases of hemophilia in royalty was Tsarevich Alexei, the son of Tsar Nicholas II of Russia and Tsarina Alexandra. Prince Alexei Romanov, great-grandson of Queen Victoria, was prone to prolonged bleeding soon after birth, and his family worried that he wouldn’t live to see 1 month of age. Although hemophilia didn’t kill Alexei — the Russian Revolution did — his hemophilia had huge effects on Russian history.

For example, hemophilia influenced royal decisions. Alexei’s condition led his mother to seek help from the mystic Grigori Rasputin, who claimed to have healing magic. Rasputin’s influence over the royal family contributed to political instability.

This relationship affected public perception of the Russian royal family. The royal family’s perceived reliance on Rasputin, along with their secret about Alexei’s illness, undermined public confidence in the monarchy. This played a part in the broader discontent that later led to the Russian Revolution.

In Spain and Germany, hemophilia also shaped royal lives but didn’t have as dramatic an impact as it did in Russia. However, the disorder influenced royal marriages and the health of many key historical figures.

A Worldwide Disease

The genetics of hemophilia can be difficult to understand, perhaps better illustrated by royal bloodlines than a biology textbook. Hemophilia’s sex-linked inheritance pattern is well illustrated by royal carriers and their affected offspring, passed originally through the bloodlines of Queen Victoria’s descendants. Today, 200 years later, hemophilia affects many different populations around the world.

If you or a loved one has hemophilia, understanding its genetic basis can be empowering. For more specific information about how hemophilia may affect your family, it’s important to consult with a doctor or a genetic counselor. They can offer genetic testing, personalized insights, and support tailored to your goals.

Talk With Others Who Understand

On MyHemophiliaTeam, the social network for people with hemophilia and their loved ones, more than 6,000 people from around the world come together to ask questions, offer support and advice, and connect with others who understand life with hemophilia.

Are you or is someone you love living with hemophilia? Does knowing about its royal history help you better understand this condition? Share your thoughts below, or post a comment on your Activities page.