What is Hemophilia?

The condition known as hemophilia results from a mutation (or several mutations) that gives rise to deficient blood clotting. Usually, when a blood vessel is broken, complex reactions are initiated which will eventually produce a protein called fibrin. These proteins will stick together and form a clot that limits the blood flow. But people with hemophilia do not go through this sequence of events. The condition is marked by slow clotting and excessive bleeding, which due to any one of the factors of the clotting process that fails to do its job.

Individuals suffering from hemophilia can be subjected to life-threatening blood loss as a result of minor injuries, and spontaneous bleeding in the joints erodes the bone with crippling consequences.

Genetic Cause

Classic hemophilia is caused by a defective copy of a gene on the X chromosome. As women posses two X chromosomes, they can be unaffected carriers of the gene causing hemophilia. A carrier has two versions of the gene. The normal version will produce enough of the clotting factor to prevent the development of hemophilia which otherwise would be caused by the defective gene. Thus, a woman will only suffer from hemophilia when she possesses two copies of the defective gene.

Men, on the other hand, only have one X chromosome, so if they inherit a copy of the defective gene, they will develop the disease. Consequently, hemophilia is more frequent among men than among women.

Royal origins?

At the moment, it seems that the gene for hemophilia has originated with Queen Victoria of England (1819 – 1901). One of her sons, Leopold, suffered from the disease and died at age 31 from a brain hemorrhage after a minor fall from his horse. It is known that at least two daughters of Victoria were carriers of the disease. Through marriage these two princesses spread the hemophilia gene to the royal families of Prussia, Spain and Russia. Going through the pedigree assisted by current knowledge, it seems that 10 of Victoria’s male descendants had hemophilia and 6 female descendants have been carrying the disease.

Some historians even believe that the disease has played an important part in the Russian revolution. Alexis, the son of Tsar Nicholas Romaniv II, suffered from the disease, and it is thought that the tsar and his wife, Alexandra, a granddaughter of Victoria, were distracted by the constant care for their son and the influence of Gregory Rasputin, who claimed to be a ‘miracle worker’ who could heal their son.