Hemophilia has the striking reputation of being the characteristic disease of many of the European royalty. However, naturally, it not only affects blue blood lineages, but affects approximately 1,125,000 men all over the world.
What is hemophilia? What are your causes?
Hemophilia is a rare, generally inherited disorder consisting of a lack of clotting factors (a series of proteins that allow the blood to clot normally), resulting in an increased risk of suffer severe bleeding.
In fact, depending on the degree to which the disease manifests itself, hemophiliac patients can even suffer spontaneous bleeding (without apparent cause) or, also, suffer serious bleeding in certain parts of the body (such as the brain) due to trauma or injuries that would not be significant under normal conditions (such as receiving a vaccine or a mild head injury).
In very rare cases, hemophilia can be acquired; In this form of the disease, it is the body’s own immune system that attacks the clotting factors. Some of the possible reasons this can occur are pregnancy, certain autoimmune conditions, cancer, or multiple sclerosis.
The vast majority of times, however, hemophilia is an inherited disease that is transmitted by a mutation in the X chromosome. For this reason, it almost always affects children and it is transmitted from mothers to children.
It is this form of transmission that explains its disproportionate incidence among royal families in Europe. It was introduced by Queen Victoria of England, and given the inbreeding practiced by the different lineages it ended up affecting the royal houses of England, Prussia (Germany), Spain and Russia; Some of the most significant cases were Tsarévich Alekséi Romanov, son of the last Russian Tsar (Nicholas II), and Juan Carlos I de Borbón’s uncles, Gonzalo and Alfonso.
What are your symptoms?
The only visible signs of hemophilia are from bleeding that patients experience more easily. For this reason, a person may develop hemophilia if small wounds, such as cuts, scrapes, or injections, cause a profuse bleeding difficult to stop
It is also common for people with hemophilia to appear very easily deep or large bruises, even with minor bumps.
In the most extreme cases, patients may suffer spontaneous internal bleeding, manifesting as unexplained nasal bleeding, swelling, and blood in urine or stools.
How is it treated?
The only cure available today for hemophilia is liver transplantation, which on the other hand is rare if it is not for other reasons (such as cirrhosis). However, it is currently common for replacement therapy to be administered (that is, injecting the deficient clotting factor into the patient’s blood), which can be punctual (when there is a bleeding episode), periodic or continuous.
In addition, they can be used other strategies, such as treatment with desmopressin, clotting medications, or fibrin sealants. Also, in a complementary way, physiotherapy (to alleviate the symptoms of bleeding in the joints) or vaccines are important to reduce the risk of contracting diseases from the use of blood products.