Hemophilia: The 'royal disease' that could lurk in every family's genes

The issue of genetic mutation and blood clotting

This disease results from a genetic mutation that is passed down through generations. The frequency of mutations in the factor VIII or IX gene is consistent. However, it turns out that anyone can be affected by hemophilia.

Hemophilia could potentially develop in every ten-thousandth newborn. Intriguingly, women act as asymptomatic carriers, with the disease primarily affecting men. This pattern reveals a gender-related and recessively inherited genetic mutation.

The mutations associated with hemophilia tie directly to the X chromosome. A very rare type, hemophilia C, has a different inheritance pattern, affecting both men and women.

Any individual can have hemophilia

Estimates suggest that hemophilia emerges in approximately thirty percent of people with no family history of the disease or carriers. When the disease appears later in life, it is referred to as acquired hemophilia.

Appropriate treatment can control hemophilia in these instances. There is a possibility that the disease can disappear entirely. Acquired hemophilia puts pregnant women, cancer patients, and those with multiple sclerosis at the most risk.

A family's medical background is key to diagnosing and effectively treating the disease. If there are suspicions of hemophilia in the family, it could be valuable to test for the disease before childbirth, especially if a male child is expected.

Hemophilia in historical context

The most notorious carrier of hemophilia B was Queen Victoria, who passed the disease to three of her offspring. Prince Leopold succumbed to an injury-induced hemorrhage at 30, and his two sisters inherited the mutated gene.

Princess Alice and Beatrice became wives to members of other European royal families. Alice's son passed away in his early years, and her daughter, Irene, married Prince Henry of Prussia and introduced the gene to the German royal family. Irene's two sons also battled with hemophilia.

Alice's other daughter, Alix, became Tsar Nicholas II of Russia's wife. Tragically, all the children of Alix and the Tsar perished during the Russian Revolution, ending the lineage of the mutated gene.

Meanwhile, Princess Beatrice's daughter brought the disease to Spain by marrying King Alfonso XIII. The royal pair had five children.

One daughter was a carrier, but her children did not have the disease. Two sons remained unaffected, while two were inflicted with hemophilia but both died childless.