Which hemophilia is called royal hemophilia? Understanding the Royal Disease

September 28, 2025 •

5 min read

Affecting prominent European royal families for generations, hemophilia B is known as the 'royal disease' due to its prevalence among Queen Victoria's descendants. This genetic bleeding disorder, which impairs the blood's ability to clot, became historically significant because of its transmission through royal bloodlines.

Quick Summary

Hemophilia B, also known as Christmas disease, is the type of hemophilia referred to as the 'royal disease' because it affected the royal families of England, Germany, Spain, and Russia in the 19th and 20th centuries, originating from a genetic mutation in Queen Victoria.

Key Points

Royal Disease: Hemophilia B is known as the 'royal disease' because it affected the royal families of England, Germany, Russia, and Spain, originating with Queen Victoria.
Genetic Cause: Hemophilia B is caused by a genetic deficiency of clotting factor IX, which impairs the blood's ability to clot normally.
X-linked Inheritance: The disease is an X-linked recessive disorder, primarily affecting males, while females are usually carriers who can pass the gene to their children.
Historical Impact: The most famous case was Tsarevich Alexei of Russia, and the disease's presence in his family was a factor in the Russian Revolution.
Modern Treatment: Significant advances in treatment, including recombinant factor replacement therapy and emerging gene therapies, have transformed hemophilia from a life-threatening condition into a manageable one.

The Story of Hemophilia in European Royalty

Hemophilia's historical connection to European royalty is one of the most famous examples of a genetic disorder impacting a dynasty. The widespread attention it received earned hemophilia B the moniker, 'the royal disease.' This lineage-specific story began with Queen Victoria of England, who reigned from 1837 to 1901 and was a carrier of hemophilia B, a deficiency in clotting factor IX. Her daughters carried the gene and passed it on to their own children, who married into other royal houses, effectively spreading the disorder across the continent.

Queen Victoria's Legacy

Queen Victoria herself is believed to have been a carrier due to a spontaneous genetic mutation, as there is no evidence of hemophilia in her ancestors. Her impact on the medical history of hemophilia is profound. She passed the gene to at least three of her nine children: her son Leopold, Duke of Albany, had the disease and died from a minor fall at age 30, and her daughters Alice and Beatrice were carriers. These two daughters, through their marriages, spread the disease to the royal families of Russia, Germany, and Spain. This historical spread is why hemophilia B is so well-known in medical and historical contexts.

The Romanovs and the Royal Disease

Perhaps the most famous case of the 'royal disease' is that of Tsarevich Alexei, the only son of Tsar Nicholas II of Russia and Queen Victoria's great-grandson. His struggle with hemophilia B was a closely guarded secret of the Romanov family. The Tsar and Tsarina's desperation for a cure or relief for their son led them to a mystic healer, Rasputin, who gained significant influence over the royal family. This relationship had a destabilizing effect on the Russian court and is widely considered a factor contributing to the fall of the Romanov dynasty and the Russian Revolution.

The Genetics of Hemophilia B

Hemophilia B is a genetic condition caused by a deficiency of clotting factor IX. To understand how it passed through the royal families, one must understand its X-linked recessive inheritance pattern. This means the gene responsible for the disorder is located on the X chromosome.

Males: Possess one X and one Y chromosome. If a male inherits a defective X chromosome from his mother, he will have the disease. This is because he lacks a second X chromosome to mask the defective gene.
Females: Possess two X chromosomes. If a female inherits one defective X chromosome, she is typically a carrier and does not show symptoms. However, she can pass the gene to her children. If she were to inherit two defective X chromosomes (a very rare occurrence), she would be affected by the disease.

This genetic pattern explains why the male descendants of Queen Victoria were affected, while her female descendants were primarily carriers who continued to spread the gene to future generations.

Hemophilia: A Comparison of Types

While hemophilia B is the 'royal disease,' it is important to distinguish it from the more common hemophilia A, as well as other types of bleeding disorders. This table provides a clear comparison.


Feature	Hemophilia A	Hemophilia B	Von Willebrand Disease	Acquired Hemophilia
Missing/Deficient Factor	Clotting Factor VIII	Clotting Factor IX	Von Willebrand Factor	Self-made Antibodies against Clotting Factors
Prevalence	80–85% of all hemophilia cases	~15% of all hemophilia cases	Most common bleeding disorder	Extremely rare
Nickname	-	"Royal Disease," "Christmas Disease"	-	-
Inheritance	X-linked recessive	X-linked recessive	Varies; can be dominant or recessive	Not inherited; autoimmune
Royal Connection	No	Yes (descendants of Queen Victoria)	No	No
Treatment Focus	Factor VIII concentrate replacement therapy	Factor IX concentrate replacement therapy	Often treated with desmopressin or factor replacement	Immunosuppressive therapy and bypassing agents

Modern Diagnosis and Management

Today, advancements in medicine have transformed the prognosis for individuals with hemophilia. Gone are the days when a minor injury could be fatal. The journey from historical affliction to modern, manageable condition has been significant.

Diagnostic Tools: Diagnosis starts with a physical examination, followed by a series of blood tests. A key diagnostic marker is the activated partial thromboplastin time (aPTT) test, which is prolonged in individuals with hemophilia A and B. A definitive diagnosis is made through specific clotting factor assays to measure the level and function of factors VIII and IX. Genetic testing can also identify the mutation and confirm the diagnosis.
Treatment Options: The primary treatment for both hemophilia A and B is replacement therapy, where the missing clotting factor is replaced through infusions. Recombinant factor products, created in a lab, have largely replaced plasma-derived factors, significantly reducing the risk of viral transmission. Long-acting factor products now allow for less frequent infusions, and prophylactic treatment (regular, preventive infusions) is standard care for severe cases, helping to prevent spontaneous bleeds and joint damage.
Emerging Therapies: Exciting new treatments are also on the horizon, such as gene therapy. These therapies aim to introduce a functional copy of the deficient factor gene into a patient's cells, allowing their body to produce its own clotting factor. This could potentially offer a long-term, and in some cases, curative solution for hemophilia.

The Future of Hemophilia Management

Research into hemophilia continues to progress at a rapid pace. The focus is shifting towards developing longer-lasting therapies, alternative non-factor replacement treatments, and a potential cure through gene editing. For instance, the use of bypassing agents has been a critical development for patients who develop inhibitors to standard replacement therapies. As the scientific understanding of the condition deepens, so too does the prospect for improved quality of life for all individuals with hemophilia.

Conclusion

Hemophilia B, the specific type known historically as the 'royal disease,' serves as a powerful illustration of the impact of genetic disorders throughout history. Its spread through the royal families of Europe, originating from Queen Victoria, brought the rare bleeding condition into the public eye. Today, while the historical notoriety remains, modern medical science has transformed the diagnosis and treatment of hemophilia B, moving it from a life-threatening condition to a manageable one. The journey from historical affliction to the frontier of genetic medicine demonstrates the remarkable progress of healthcare and the hope for a future where genetic disorders can be effectively controlled or cured. For more detailed information on bleeding disorders, consult authoritative medical resources like the National Hemophilia Foundation (NHF) to stay informed on the latest developments in research and treatment.

Frequently Asked Questions

Hemophilia B gained the nickname 'the royal disease' because it spread throughout the royal families of England, Germany, Spain, and Russia during the 19th and 20th centuries. The gene was traced back to a spontaneous mutation in Queen Victoria of England, who then passed it to her descendants who married into other European royal houses.

The primary difference lies in the deficient clotting factor. Hemophilia A is caused by a deficiency of clotting factor VIII, while hemophilia B is caused by a deficiency of clotting factor IX. Hemophilia A is more common, but both are serious, X-linked recessive bleeding disorders.

Queen Victoria was a carrier of the hemophilia B gene, but she did not have the disease herself. As a female with two X chromosomes, the healthy gene on her second X chromosome masked the effects of the defective one. However, she was able to pass the gene on to her children.

While hemophilia primarily affects males due to its X-linked inheritance pattern, women can also be affected, though it is very rare. This occurs if a female inherits a defective X chromosome from both her mother and her father. However, it is more common for women to be asymptomatic carriers of the gene.

Hemophilia is diagnosed through a series of blood tests that measure the activity level of specific clotting factors. A doctor will typically perform a complete blood count and a coagulation test, such as the activated partial thromboplastin time (aPTT), followed by a specific factor assay to confirm the diagnosis and determine the type.

While there is no universal cure for hemophilia currently, modern treatments have made it a very manageable condition. Emerging gene therapies offer the potential for a long-term solution by introducing a functional copy of the defective gene into the body, which could eventually be considered a cure for some.

The main treatment for hemophilia B is replacement therapy with factor IX concentrate. This can be either a recombinant product made in a lab or derived from human plasma. Prophylactic therapy, involving regular infusions, is often used to prevent bleeding episodes in severe cases.

Rasputin was a mystic healer who gained significant influence over the Russian royal family because he appeared to be able to help manage Tsarevich Alexei's hemophilia symptoms. The Tsar and Tsarina's reliance on him fueled controversy and weakened the public's trust in the Romanovs.