In the flourishing Victorian British royal family, a terrible genetic disease was circulating. After trauma, people with the disease will bleed heavily, and the hemostasis rate is slow, and they may bleed spontaneously without injury, and may even be life-threatening due to excessive blood loss.
At that time, the royal family, the prevalence of the use of blood to consolidate politics, coupled with the lack of understanding of this disease at that time, the treatment methods were backward, this disease gradually spread through inter-royal marriage, gradually spread in Germany, France and even the entire European royal family.
This disease is hemophilia, also known as "royal disease".
Why does hemophilia make people bleed so much?
Modern medical research has found that hemophilia is actually a hereditary coagulation disorder.
There is a certain defect in the genes of these patients, resulting in the lack of one or two of the clotting factors VIII and IX., which is very easy to bleed, and the hemostasis rate will be slower than that of ordinary people.
How is hemophilia inherited?
Most hemophilia are X-linked recessive genetic diseases, so it does not occur if you carry the hemophilia gene, which means that even if it is inherited, not all children will have the disease.
Let's take Queen Victoria and her children as an example to illustrate: Queen Victoria is a carrier of the hemophilia gene, and her sex chromosome is XX, which is divided into a normal X chromosome and an X chromosome carrying the hemophilia gene.
Her husband is a healthy man with sex chromosome XY and neither carries the hemophilia gene.
We all know that the next generation will inherit one of their parents' sex chromosomes, and if the inherited chromosome is XX, it is a girl, and if the chromosome is XY, it is a boy.
For the XX chromosome, as long as one of the two X chromosomes is normal, it will not develop the disease, but only a carrier of the hemophilia gene.
Therefore, for princesses, there is no hemophilia, but there is a 50% chance of becoming a carrier of the hemophilia gene.
For the XY chromosome, as long as the X chromosome carries the hemophilia gene, it will become ill. So princes, there will be a 50% chance of becoming a hemophilia patient.
Of course, in addition to 2/3 of hemophilia may be inherited, there may also be some people, due to the influence of some factors, their own genetic mutations and disease.
According to research, among the 9 children born to Queen Victoria, 2 princesses are carriers of hemophilia genes, and 1 prince has hemophilia, and hemophilia is passed on to offspring, resulting in many members of the royal family.
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At present, statistics show that the incidence of hemophilia in any country and race in the world is basically equal, about 1-3 people per 100,000 people.
The most typical symptom of hemophilia is bleeding, 80% of which occurs in joints and muscles
Bleeding can occur in any part of the body, including the brain, digestive tract, urinary system, etc., about 80% of bleeding occurs in the joints and muscles, of which joint bleeding accounts for about 80% of them.
As we mentioned above, hemophilia is due to genetic defects, which lead to the lack of clotting factors VIII and IX., and the degree of coagulation factor deficiency is different, which in turn leads to different severity of hemophilia.
In general, the level of coagulation factor activity in healthy people > 50%.
Coagulation factor activity is between 5% and 50%, for mild hemophilia, many people may not bleed much for life, or only some small bleeding that they cannot detect on their own;
Coagulation factor activity is between 1% and 5%, for moderate hemophilia, bleeding after injury or surgery will be longer, the amount of blood will be more than the average person, and occasionally spontaneous bleeding may occur;
Coagulation factor activity levels <1%, which is severe hemophilia, and spontaneous bleeding occurs even if the patient is not injured.
Bleeding can have serious consequences
Bleeding caused by hemophilia can be life-threatening if it occurs in important areas, such as the brain and digestive tract.
If muscles and joints bleed, it can also cause dysfunction of muscles and joints, such as:
Severe joint pain: the joint cavity has a certain volume, when the joint cavity bleeding too much, it will lead to increased tension in the joint cavity, severe pain.
Joint cartilage destruction, joint contractures: blood will also play a direct destructive role in joint cartilage, if after the bleeding period still long time immobilization, it will also lead to joint cystic contractures, muscle shortening, tendon calcification, etc., resulting in limited joint activity.
Synovitis: blood accumulates in the joint cavity, which will stimulate the synovium of the joint, making it congested, edematous, and hyperplastic, resulting in acute synovitis, which may lead to chronic synovitis repeated bleeding in the long run.
Synovitis can make synovial tissue brittle and easier to bleed, and it can also reduce the sensitivity of treatment, which requires more doses.
Osteoporosis: Prolonged bed rest and inactivity in order to reduce bleeding may cause bone changes and osteoporosis.
Attention should be paid to first aid and preventive treatment after bleeding
For the treatment of hemophilia, the main timely and adequate supplementation of coagulation factors is the mainstay, which one is supplemented when it is missing, and the coagulation factor can be injected regularly to prevent bleeding. Once the bleeding stops, physical therapy and rehabilitation are initiated.
Physical therapy can promote blood absorption in time, eliminate inflammation, edema, improve joint function, but also enhance muscle strength, improve balance function and gait, as soon as possible to restore to the state before bleeding, do not let bleeding continue to damage the body's function.
Don't lie still for a long time because of fear of bleeding, you should carry out rehabilitation training in time, you can improve your symptoms by some manual treatment, or with the help of braces for joint mobility training.
If bone contractures have occurred and the joint space has disappeared, surgery may be needed.
References: Medical Microvision official website - Chen Lixia Chief Physician "Hemophilia Osteoarthropathy"