Haemophilia is a genetic bleeding disorder where blood does not clot properly. This condition arises from insufficient levels of specific proteins in the blood, known as clotting factors, typically factor VIII or factor IX. Individuals with haemophilia can experience prolonged bleeding after injuries or surgery, and in severe cases, spontaneous bleeding may occur. Common signs include easy bruising and bleeding into joints or muscles.
The Royal Lineage of Haemophilia
The term “royal disease” became associated with haemophilia due to its presence within European royal families during the 19th and 20th centuries. Queen Victoria of the United Kingdom was a carrier of the haemophilia gene. This genetic trait likely emerged as a spontaneous mutation within her lineage. Victoria passed the gene to several of her children, who then intermarried with other royal houses across the continent.
Her youngest son, Prince Leopold, Duke of Albany, inherited haemophilia, eventually dying at age 30 from complications after a fall. Two of her daughters, Princess Alice and Princess Beatrice, were carriers, meaning they could transmit the gene without necessarily showing symptoms themselves. Through Princess Alice, the gene entered the German and Russian royal lines. Alice’s daughter, Alix, later known as Tsarina Alexandra Feodorovna, married Tsar Nicholas II of Russia.
Their only son, Tsarevich Alexei Nikolaevich, was born with haemophilia. Alexei’s severe condition had significant historical and political repercussions, as his mother’s desperation for his health led her to rely on the mystic Grigori Rasputin, influencing imperial decisions. Through Princess Beatrice, the haemophilia gene spread to the Spanish royal family via her daughter Victoria Eugenie, who married King Alfonso XIII. Their son, Infante Gonzalo, also suffered from haemophilia. While the disease was prominent in these historical royal lines, no living members of reigning European dynasties are currently known to have haemophilia.
The Genetic Basis of the “Royal Disease”
Haemophilia is categorized as an X-linked recessive disorder. The genes responsible for producing the necessary clotting factors are located on the X chromosome. Biological sex is determined by sex chromosomes: males typically have one X and one Y chromosome (XY), while females have two X chromosomes (XX).
Because males possess only one X chromosome, if that single chromosome carries the altered gene for haemophilia, they will express the disorder. In contrast, females have two X chromosomes, so if one carries the altered gene, the other usually provides a functional copy of the gene, preventing full expression of the disease. These females are known as carriers; they do not experience severe bleeding symptoms. A carrier mother has a 50% chance of passing the altered gene to each son, who will then have haemophilia, and a 50% chance of passing it to each daughter, who will become a carrier.
Beyond Royalty: Haemophilia Today
Haemophilia is not exclusive to royalty; it is a global genetic disorder. Modern medicine has significantly advanced the understanding and management of this condition. Diagnosis involves screening tests to assess blood clotting, followed by specific clotting factor assays to identify the type and severity of haemophilia. Genetic testing can also confirm the presence of the altered gene.
Treatment for haemophilia is factor replacement therapy, which involves infusing the missing clotting factors directly into the bloodstream. These factors can be manufactured synthetically, known as recombinant factors, or derived from human blood products. Regular, prophylactic infusions prevent bleeding episodes, particularly in severe cases. This proactive approach minimizes joint damage and other complications, allowing many individuals with haemophilia to lead more active and fulfilling lives.