Written by Kevin Jennings
It’s good to be the king! However, there are a number of genetic diseases that have plagued royal families for centuries. Today we look at how royalty have been affected by hemophilia, porphyria, Habsburg Jaw, intellectual disabilities, and psychological disorders.]
Royal families throughout history often liked to keep their bloodlines pure, and it was believed there was no better way to protect the sanctity of a monarchy than through extensive inbreeding. As we have since learned, the lack of genetic diversity resulting from inbreeding is less than ideal.
People are full of recessive genes. Many of these genes are harmless, like the gene that causes blue eyes. Despite being recessive, it’s also a relatively common gene. However, there are a lot of much more rare recessive genes that are linked to undesirable and often dangerous genetic conditions. There’s a good chance that that you have several of these yourself, but it’s not really any cause for concern. Because they are rare, the chance of two parents having the same recessive gene and also both passing it to a child is extremely unlikely.
Unfortunately, in royal families that were intent on keeping their blood pure, this became more of a problem. If a monarch had one of these undesirable recessive genes that was otherwise rare, the practice of inbreeding would make it much more likely for two parents to both have that gene as well. Once someone was born with the genetic disease or malady, continued breeding with those in the family who were likely to also have a copy of the recessive gene would make further cases of the condition even more likely.
This lack of genetic diversity that resulted in the proliferation of undesirable and dangerous recessive genes led to many of the stereotypes that people have when they think of royal families of the past. Today we’ll be looking at some of the most famous genetic diseases to plague royal families.
Hemophilia, specifically hemophilia B, is a rare disease effecting about 1 in every 25,000 to 30,000 men. It is a sex-linked disease, as the mutation that causes hemophilia exists on the X chromosome. Even though this is the female sex chromosome, the disease almost exclusively affects men. This is because women have two X chromosomes, so if one carries the recessive mutation the other will almost certainly have the dominant gene to provide normal function blood clotting function.
Because the Y chromosome does not have a comparable gene, the disease will manifest in men who inherit the mutated gene from their mother. Women who carry this gene are referred to as carriers, and the most famous carrier of hemophilia B was the United Kingdom’s Queen Victoria. Since a man needs a single mutated gene to present the disease rather than two, inbreeding does not necessarily make hemophilia more likely to occur. However, it is this inbreeding that resulting it in being known as the Royal Disease. It affected not just the United Kingdom’s royal family, but royal families across Europe who had a shared bloodline.
Queen Victoria is known to have 16 descendants who either suffered from hemophilia or were female carriers of the disease. These descendants were spread throughout the royal families of the U.K., Spain, Germany, and Russia, though there are no remaining hemophiliac descendants of Victoria.
As for the disease itself, it is dangerous though mostly treatable, at least now. Hemophilia is a blood clotting disease characterized by easy bruising and bleeding, as well as excessive bleeding. In modern times the condition can be treated with both blood transfusions and infusions of the clotting factor that is missing from the person’s blood, resulting in an average life expectancy only about six years less than that of a person without the condition.
However, there are still serious risks from hemophilia. One is hemarthritis, a condition in which the hemophiliac bleeds into their joints. This usually is the result of some sort of injury, but it may also occur spontaneously. Repeated hemarthritis events in the same joint can result in permanent disability. Even more dangerous, hemophilia can result in bleeding in the brain which can also occur spontaneously.
Among Queen Victoria’s descendants was Prince Friedrich of Hesse and by Rhine. Friedrich fell out of a window shortly before his third birthday. The fall would almost certainly have not been fatal, had he not inherited the Royal Disease. Instead of receiving a few bruises and a stern talking to about not being so reckless, he died of a brain bleed.
Because proper treatment for the disease did not yet exist, all of the male descendants of Victoria who inherited hemophilia died as a result of complications from the disease. Since there was only a 50% chance that the female descendents would become carriers themselves, eventually everyone in the bloodline who carried the mutated gene died off thus putting an end to one of the most famous genetic ailments of European royalty.
Porphyria is another genetic condition that was passed down by Queen Victoria. Like with hemophilia, Victoria was only a carrier and did not suffer from the disease herself. However, the hemophilia that plagued Europe’s royal families is believed to have originated with her, or more specifically from her father passing her a gene that then mutated. Porphyria on the other hand had been affecting royal families for far longer.
There is some debate over the diagnosis as no genetic testing can be done, but it is widely believed that King George III suffered from Porphyria as well, and that it was this condition that earned him the nickname “the mad king”. More controversially, it is believed that the genetic disorder can be traced back at least as far back as Mary Queen of Scots, George’s five-times great grandmother.
Porphyria refers to a group of liver disorders in which substances called porphyrins build up in the body. Depending on the variety of the disorder, this can affect either the skin or the nervous system. The royal family was afflicted with variegate porphyria, an acute form of the disease that affects the nervous system. The disease gets its name from the Greek work “porphyra”, meaning purple. It was named this because the urine of a person suffering from an attack is often of a blue-ish or purple colour.
Unfortunately, strangely coloured urine is far from the most severe symptom of acute forms of porphyria. The acute versions of the disease feature attacks that often include abdominal pain, vomiting, hypertension, and tachycardia. Particularly severe episodes may result in weakness of the muscles, paralysis of the limbs, seizures, hallucinations, and even psychosis. Variegate porphyria in particular also includes photosensitivity and more pronounced neurological symptoms that can result in developmental delay.
The good news is that these symptoms are intermittent, only manifesting during an attack. The bad news is that an attack can last for days of even weeks at a time. That’s weeks at a time that a ruling monarch could be suffering from intensely uncomfortable physical symptoms coupled with anxiety, confusion, and hallucinations. This incredible severe combination of symptoms and the resulting unpredictability could easily result in someone earning the name “the mad king”.
Though porphyria remains incurable, treatments do not exist to help prevent attacks from occurring. In extremely rare cases, a liver transplant may even be performed. The most recent descendant of King George to be reliably diagnoses with the condition was Prince William of Gloucester. He was originally diagnosed with the disease in 1968, and the diagnosis was confirmed by two additional doctors.
William, a trained pilot, died in a plane crash in 1972 while competing in the Goodyear International Air Trophy. There is no indication that an attack of porphyria was responsible for the plane losing control and crashing, but to the best of our knowledge he was the last royal to have inherited porphyria.
Prognathism, derived from the Greek words for “forward” and “jaw”, is a condition in which either the upper or lower jaw extends forward more than the other does. This results in either an overbite or an underbite, and it is relatively common. The manifestation of this condition is generally subtle, and it usually isn’t classified as a disorder. Most people who have a minor misalignment of their jaws don’t suffer any ill effects of the condition, and so for many it isn’t a big deal. For the Spanish Habsburg dynasty, this couldn’t have been further from the truth.
The Habsburgs were originally from Austria and Germany, and the family controlled various parts of Europe throughout the 13th and 14th centuries. It was Charles V who would inherit the throne of Spain as a result of his grandparents marriage. The Habsburgs understood that they could lose the throne through marriage just as easily as they had attained it, and so nearly all Habsburg marriages were incestuous. Though familiar marriages were common among royal families, the Habsburgs’ dedication to the practice was enough to even raise the eyebrows of other royals.
Though this dedication would allow them to retain power, it would also be their undoing. Charles V suffered from mandibular prognathism, a rather extreme version of prognathism in which the lower jaw, or mandible, juts out significantly beyond the upper. It is regarded as being potentially disfiguring, and the effects of this genetic condition were only amplified by generation upon generation of inbreeding. We mentioned that prognathism isn’t always classified as a disorder, but the severity of which it occurred in the Habsburgs definitely qualified it as one.
By the time King Charles II of Spain was born in 1661, less than 150 years after Charles V had become king of Spain, the generational damage was far too great. Mandibular prognathism results not only in a protruding jaw but also an oversized tongue. As a result, Charles II was barely able to eat or speak. This had been a constant problem among the Habsburgs that was finally reaching is most severe stage with Charles.
But the Habsburg Jaw was only one of several issues facing Charles II. As a child, he was struck with measles, chickenpox, rubella, and smallpox. All of those were potentially deadly diseases at the time. He also suffered from rickets and was unable to walk until he was four years old, a year after he had already been crowned king. Despite his frail upbringing and genetic deformity, Charles II was well educated and athletic.
Though his jaw made speaking and eating difficult, these tasks were not insurmountable and the disease prone king survived into adulthood. However, despite attempts with two different wives, he was unable to conceive an heir. It is believed that his infertility was likely the result of the extensive inbreeding, but there is no way to know for sure. Charles II died at the age of 38 as the result of renal failure thus ending the royal bloodline. Though other descendants from the extended Hapsburg family exist today, the trademark protruding jaw did not propagate to the rest of the family lineage.
Intellectual Disability and Psychological Disorders
For the most part, these last two categories aren’t understood nearly as well as the others. Certain forms of intellectual disability are caused by recessive genes that are more likely to manifest as a result of inbreeding, similar to the other conditions we mentioned. However, even in the absence of such a genetic disorder, those with a higher inbreeding coefficient typically have lower IQs.
Studies have consistently shown that those who are the result of inbreeding have cognitive and developmental impairment, though the reason is not fully understood. Similarly, a high inbreeding coefficient is a strong risk factor for a myriad of mental disorders including bipolar, anxiety, depression, and phobias.
Throughout history, there are countless examples of royal families for whom these were all too common. The number of royals who were given the nickname “the mad” is staggering, and in most of these cases the symptoms they displayed are consistent with a person suffering from a combination of anxiety, depression, and severe bipolar. There are exceptions, such as Nebuchadnezzar II who is described as having symptoms of boanthropy, a condition in which a person believes they are a bovine, but most mad royals are consistent with these other psychological disorders.
In European monarchs alone, there are believed to be at least a dozen royals who suffered from these psychological conditions throughout the 14th through 19th centuries. From Joanna of Castile who is believed to have suffered from psychosis and schizophrenia to German Emperor Wilhelm II, believed to have had bipolar disorder and histrionic personality disorder, the rate of psychological disorders among royals consistently shows to be much higher than among the general public.