April 17, 2023 is the 35th World Hemophilia Day. There is a group of people who are as fragile as' glass humans', and a small bump can lead to continuous blood flow, lifelong disability, and even death. This is hemophilia. Hemophilia is an X-linked recessive hereditary hemorrhagic disease, "Liang Xinyue, associate professor and deputy chief physician of the Hematology Department at the Cancer Center of Bethune First Hospital of Jilin University, introduced in an interview with People's Daily News. Hemophilia is also a rare disease characterized by mild trauma to joints, muscles, viscera, and deep tissues or difficulty in stopping spontaneous bleeding. If not treated in a timely manner, repeated joint bleeding may lead to chronic joint swelling, dysfunction, or deformity, and the muscles around the joints may atrophy, ultimately leading to chronic hemophilic arthritis and disability. Liang Xinyue stated that hemophilia is divided into hemophilia A (coagulation factor VIII deficiency) and hemophilia B (coagulation factor IX deficiency), respectively caused by mutations in the corresponding coagulation factor genes. The coagulation factor VIII and IX genes are located on the X chromosome. Due to the fact that males only have one X chromosome, males with diseased chromosomes are all hemophiliacs. Most women are carriers because they have two X chromosomes. Although there is a genetic defect on one X chromosome and a normal gene on the other X chromosome, they can still produce enough coagulation factors without developing the disease. "There is no difference in the incidence rate of hemophilia between different races and regions. The incidence rate of hemophilia A in the male population is 1/5000, and the incidence rate of hemophilia B is 1/25000. Female patients with hemophilia are rare," Liang Xinyue said. Liang Xinyue suggests that some hemophilia patients may exhibit symptoms during childhood. When parents discover that their children have bumps, hematoma and bruises, are prone to bleeding, and cannot stop, they should attach great importance to it. They should take their children to the hematology department of the hospital as soon as possible to avoid missed diagnosis and misdiagnosis. Preventive treatment is the preferred treatment method for childhood hemophilia, and early sustained and individualized standardized treatment is crucial. "Liang Xinyue introduced that preventive treatment, also known as regular replacement therapy, is a regular replacement treatment before bleeding, ensuring that coagulation factors are maintained at a certain level to prevent bleeding and joint damage, and reduce disability rates. The earlier the prevention and treatment for children with hemophilia, the better. Liang Xinyue stated that when patients with hemophilia experience acute bleeding, they should receive professional treatment as soon as possible and adhere to the RICE principle of rest, cold compress, lifting, and compression, and first seek self assistance. For those who have developed disabilities, joint function assessment, physical therapy, and rehabilitation can be carried out. "Adhering to prevention first, early detection, early intervention, and early treatment is the best way to prevent and treat rare diseases." Liang Xinyue suggested that women with a family history of hemophilia should have gene testing before pregnancy, and women with a family history but no gene carrier can deliver according to normal procedures after pregnancy; For female carriers, it is best to conduct amniocentesis sampling during a specific period after pregnancy to determine whether the fetus is a hemophilic patient or carrier. (New News Agency)
Edit：Guanguan Responsible editor：Niexiaoqian
Source：People.cn
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