April 17, 2023 is
35th World Hemophilia Day
The theme of the event was "Bleeding Prevention for All"
It aims to increase the attention and support of hemophilia in the whole society
Scientific prevention and treatment of bleeding, optimization of prevention and treatment strategies
Improve standardized diagnosis and treatment capabilities and nursing management levels
As soon as you touch the skin, there will be a bruise, a small trauma will bleed, and you will cause deformity, disability, severe bleeding and even life-threatening due to repeated bleeding... These symptoms actually come from a rare disease that people are not familiar with - "hemophilia".
These people have bleeding inadvertently because of coagulation dysfunction, so hemophilia patients are vividly called "glass people". Hemophilia is a lifelong disease, currently only medical intervention to prevent heavy bleeding to maintain life, although hemophilia is currently incurable, but with the continuous advancement of medical technology, the quality of life and prognosis of patients has been significantly improved.
What is hemophilia?
Hemophilia is a hereditary bleeding disease caused by the lack of coagulation factors, which is divided into A and B types according to the lack of coagulation factors, among which hemophilia A lacks coagulation factor VIII. and hemophilia B lacks coagulation factor IX. Clinically, hemophilia A is the most common, accounting for about 80%-85%.
Hemophilia also has a noble nickname called "royal disease". The cause was a genetic mutation in Queen Victoria of the United Kingdom, when European royal families were prevalent in marriage, and Queen Victoria, as the "grandmother of the European royal family", made the disease-causing gene passed on from generation to generation, and even transferred to the royal families of Spain, Russia, and Prussia, and the disease ravaged the European royal family.
Clinical manifestations of hemophilia
The most dominant manifestation of hemophilia is bleeding, which is characterized by delayed, persistent, slow bleeding, and acute major bleeding is less common. Especially after minor trauma, minor surgery (including tooth extraction), and bumps, bleeding often continues. Due to the congenital deficiency of clotting factors, there are many cases where spontaneous bleeding occurs without any trigger, such as bleeding from the gums and redness and swelling of the joints.
Joint bleeding is the most common and characteristic bleeding pattern of hemophilia and the main cause of disability in hemophilia. The joints that are most prone to bleeding are the weight-bearing joints of the body: knees, ankles, elbows. Whether hemophilia presents clinically or whether bleeding occurs depends largely on normal clotting factor levels.
How can I prevent hemophilia?
Since hemophilia is a genetic disease, the best way to prevent it is to avoid the occurrence of genetic mutations.
1
Avoid marriage between close relatives
Since hemophilia is mainly inherited through the X chromosome, if close relatives marry, it increases the risk of genetic mutations and easily leads to the occurrence of hemophilia.
2
Genetic testing is performed
If there is a family history of hemophilia, genetic testing is recommended to determine whether there are mutations in clotting factors and to take appropriate measures to prevent and treat them.
3
Focus on a healthy lifestyle
Maintaining a healthy lifestyle, such as eating a sensible diet, exercising properly, and avoiding smoking and drinking, can reduce the risk of many diseases, including hemophilia.
How is hemophilia treated?
Currently, there is no cure for hemophilia, but a range of treatments can be used to control symptoms and prevent complications.
Coagulation factor replacement therapy: This is currently the most important treatment, which is to supplement the lack of coagulation factors in the patient's body by injecting synthetic coagulation factors, thereby preventing bleeding and preventing complications. Clotting factor replacement therapy usually needs to be done in the hospital, but for some people with mild hemophilia, it can also be done at home.
Antifibrinolytic therapy: This treatment is mainly used to control excessive dissolution of blood clots after bleeding. Antifibrinolytics can inhibit the activity of fibrinolytic enzyme in the body, which makes the blood clot more stable and reduces the degree of bleeding.
Surgical treatment: For some hemophilia patients who require surgery, enough clotting factors must be injected before surgery to ensure successful surgery and prevent bleeding.
In addition to the above treatments, patients also need to pay attention to some details of daily life, such as avoiding injuries, paying attention to oral hygiene, avoiding excessive exercise, etc., to reduce the risk of bleeding.
Hemophilia is a serious disease that can place a great burden on patients and families. However, with the continuous advancement of medical technology, the quality of life and prognosis of patients have been significantly improved.
Form a joint force for hemophilia prevention and treatment
The unified and coordinated standardized management of the whole country will help improve the level of hemophilia prevention and treatment in the mainland, and to achieve this, it is necessary to establish a national hemophilia prevention and control organization. With the support of the World Alliance for Hemophilia, six mainland hemophilia centers initiated the establishment of the China Hemophilia Collaborative Group in 2004, and set up four working groups on registration, experimental diagnosis, nursing and rehabilitation physiotherapy, followed by a pediatric working group in 2008.
In November 2009, the mainland began to establish a hemophilia case information management system, aiming to comprehensively understand the basic information of mainland hemophilia patients and the clinical application of coagulation factor products, further standardize the diagnosis and treatment of hemophilia in mainland China, ensure medical quality and medical safety, and provide scientific basis for the formulation of relevant policies. At the same time, all localities have established a hierarchical diagnosis and treatment system for hemophilia, identified designated medical institutions for hemophilia, established a provincial hemophilia expert group and improved the information management system for hemophilia cases.
With the joint efforts of the government and all parties, hemophilia was included in the national serious illness medical insurance in 2013, and the 2017 edition of the national medical insurance catalogue officially included the preventive treatment of children's hemophilia into the scope of medical insurance reimbursement.
Graded diagnosis and treatment of hemophilia must also rely on hemophilia centers at all levels to implement it. To this end, based on the actual situation in mainland China, the China Hemophilia Collaborative Group has formulated the construction standards for Chinese hemophilia centers, and made clear requirements for the functions, departments and professional allocation, qualifications and responsibilities of relevant personnel, list of coagulation test items and time for issuing reports.
On this basis, the China Hemophilia Collaborative Group and the China Rare Disease Alliance officially launched the capacity building evaluation project of mainland hemophilia centers in 2020. So far, a total of 241 hospitals have entered data into the national hemophilia case information management system, with more than 40,000 cases, and the prevention and treatment level of hemophilia in mainland China has been further improved.
In addition, various public welfare foundations and charitable organizations also cooperate with pharmaceutical companies to provide partial compensation for the treatment costs of hemophilia patients, further reducing the treatment burden of patients, and patients who meet the national poverty alleviation assistance can also enjoy free treatment.
Source: Science and Technology Daily