There is a group of patients with disease, which is called "glass man". They are very fragile. As soon as they touch the skin, they will bruise. A little trauma will bleed more than a little trauma. It also causes deformities, disability, severe bleeding or even threatening life because of repeated bleeding …… The symptoms of these patients are actually from rare diseases that people are not familiar with- "hemophilia".
Data show that more than 30%of adult patients in my country are not treated or occasionally treated, and the proportion of preventive treatment among adult patients accounts for only 16%, which is far lower than 60%of the world’s preventive treatment rate.
Professor Wang Xuefeng said: "Low prevention of treatment rate is related to the hiddenness of hemophilia and the limitations of the public’s understanding of the disease."
What height disease?
"There are more than ten kinds of coagulation factors in the blood. When bleeding occurs, a series of complex chain reactions are pushed one by one like a Domino card, and finally the coagulation function is achieved. And bloody patient patients have less coagulation factors, coagulation, coagulation patientsThe reaction of the Domino card is broken, and the coagulation function is blocked, so it is difficult to stop the bleeding. "This is the image of the blood friend’s disease in the first" Blood Friends Family Guide "(first edition).
Hematomy disease is a group of genetic hemorrhagic diseases that cause patients with severe coagulation disorders due to the lack of certain coagulation factors in the blood, including hemophilia A (A), hemophilia B (B), and factor XI deficiency.(Once called hemophilia C).Men and women can develop, but most of the patients are men.
Hematomy patients are very fragile. Once they are traumatized, they will be excessively bleed due to lack of coagulation factors.Once the disease is onset, it will be accompanied by life. If you don’t pay attention to, you will flow. Many patients do not prevent joint injury, even disability and paralysis.
Hematomy is a genetic disease, and prenatal diagnosis and family history should be particularly concerned.
Hepatimoric disease has a noble name "royal disease".
The reason was that the Queen Victoria of the United Kingdom had a genetic mutation. At that time, the European royal family was in prevalence. Queen Victoria was the "grandmother of the European royal family", which made the pathogenic gene from generation to generation and even transferred to the Spanish, Russia, and Prussian royal family.Raw the European royal family.
Hematomy is a hidden hemorrhagic disease of sexual chain. When X -chromosomes inheritance women are pregnant, half of the mother with hemophilia genes have half a chance to inherit the hemophilia gene.
Hematomy inheritance:
Men with hemophilia+normal women: son normal daughter hemophilic disease carrier
Normal male+female carrier: a son 50%, the chance of hemophilia daughter 50%, the chance to carry
Male male+female carrier: 50%of his son, hemophilia daughter 50%chance of hemophilia or carrier or carrier
Male male+hemophilia women: son and daughter are patients with hemophilia
As a genetic disease, prenatal diagnosis and family history of hemophilia need to pay special attention.
What are the symptoms of hemophilia?How to treat it?
Patients with hemophilia have different symptoms due to different bleeding sites.
There are 6 main manifestations: bleeding symptoms: muscle bleeding, subcutaneous bleeding, and bleeding after extraction.Joint contracture, deformity.hematuria.Bleeding and nose in the mouth.Hematomy disease arthritis.Neurological symptoms: Pain is numb and muscle atrophy caused by compression of deep hematoma.
Muscle and joint bleeding can cause joint injuries and manifestations of joint pain; severe intracranial hemorrhage and abdominal hemorrhage are dangerous.
Due to the diverse symptoms, many patients have run the wrong department to see the errors.The unit can be performed, but many patients do not even realize that this is an important reason for the rare disease.
It should be reminded that the first time that many patients bleed were before 3 years old, the main manifestation of hemophilia is bleeding. If the child occurs the following symptoms, it may be the initial manifestation of hemophilia. We must go to the hospital for examination in time:The bleeding site is wide and severe, and it is not easy to stop bleeding. Bleeding often lasts for several hours or even weeks; the neonatal umbilical cord residue continues to bleed; bleeding for a long time;Long -term bleeding or bleeding after injury and surgery; often spontaneous arthrocatuated blood, and repeatedly occur.
In addition, children often have nosebleeds for no reason, or bumps on their bumps cause blood stasis for a long time. There is often a piece of blood stasis, and parents should not take it for granted. This may be the early manifestations of hemophilia.Parents of children should be highly vigilant.
Treatment: Children’s period is the key, preventing treatment and controlling bleeding
my country currently has a population of about 136,000 blood friends. Due to insufficient standardized prevention and treatment, there are about 50%of disability under the age of 14, and as high as 90%over 18 years old.
Unlike many genetic diseases, patients with hemophilia only need to receive long -term regularized standardized treatment, and they are expected to achieve "zero bleeding" and return to normal life.
Prevention treatment is that without bleeding, regularly accepting coagulation factor injection, just like patients with hypertension patients take antihypertensive drugs to reduce the risk of cardiovascular disease.Treatment of joints and muscle functions.
As for when to start preventing treatment, it is recommended to start immediately after the first joint bleeding or severe muscle bleeding.If intracranial hemorrhage occurs, preventing treatment should be started immediately.
"Treatment of hemophilia is the key to childhood." Professor Wu Runhui said that the younger the age of preventing treatment, the better the effect.When a child was a kid, it was taken as a standardized prevention treatment to prevent complications such as disability and other complications, and lived like a normal person.
Hematomy disease is rare, and it also has a great burden on every hemophilic family.
Let’s walk into the "hemophilia" and care for the "glass man" to make life no longer fragile.
Source: Health Times, Guangzhou University of Traditional Chinese Medicine Jinshazhou Hospital, Double Whale Health and Rare Disease Development Center
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