April 17 is the 36th "World Hemophilia Day", and this year's theme is "Understanding Bleeding Disorders, Actively Preventing and Treating", aiming to raise the awareness and concern of the whole society about hemophilia and other bleeding diseases, and promote scientific prevention and standardized diagnosis and treatment.
Liu Yuanfang, deputy director of the Department of Hematology and Oncology of Luwan Branch of Shanghai Ruijin Hospital, popularized hemophilia-related knowledge from three aspects: awareness, prevention and treatment.
Hemophilia is a group of inherited bleeding disorders caused by coagulation factor deficiency, and it is also a birth defect disease that seriously endangers health. The main manifestations are spontaneous bleeding or bleeding after mild trauma, hematoma formation, and joint bleeding. Recurrent bleeding of weight-bearing joints such as knees, ankles and muscles can lead to joint swelling and muscle necrosis, which in turn can lead to joint deformities, muscle atrophy, and even limb disability. Hemophilia patients are as fragile as glass, and a small bump can cause them to bleed nonstop, hence the name "glass man".
Liu Yuanfang told reporters: "When some patients find that the bleeding does not stop after tooth extraction, or move a little, his joints will be swollen very much, repeated bleeding and so on, then they have to go to the hospital for corresponding treatment. In relatively large hospitals, doctors are already very familiar, and a coagulation index can be checked to confirm the diagnosis. Most patients develop the disease as early as possible and can be diagnosed early to avoid further complications. ”
Hemophilia is born and accompanied by life, there is no mature radical cure, childhood is the golden period of hemophilia treatment, children should be treated as soon as possible, adequately, and long-term, standardized preventive treatment, and coagulation factor replacement therapy is the main treatment. According to the timing of coagulation factor transfusion, alternative therapy can be divided into two categories: on-demand treatment with urgent transfusion of coagulation factors after bleeding and prophylactic treatment with regular transfusion of coagulation factors before bleeding. Prophylaxis for children is to regularly replace therapy before bleeding to ensure that coagulation factors are maintained at a certain level to prevent bleeding and joint damage and reduce the rate of disability.
Due to the chromosomal linkage recessive inheritance of hemophilia attributes, hemophilia patients, carriers of disease-causing genes and couples with a history of pregnancy or childbirth or family history of hemophilia can receive genetic counseling and fertility guidance before pregnancy, conduct genetic testing and pregnancy risk assessment, and conduct prenatal diagnosis as soon as possible after pregnancy, to determine whether the fetus carries the disease-causing gene of hemophilia, and to assess the risk of fetal disease.
At present, the mainland has included hemophilia in the first batch of rare disease lists, the management of children's hematological disease treatment guarantee and the scope of centralized treatment of serious diseases, the relevant treatment drugs have been included in the national medical insurance list, and the national rare disease diagnosis and treatment cooperation network has been established and improved, so as to strengthen the standardized diagnosis and treatment, treatment guarantee and management of hemophilia patients.
Liu Yuanfang introduced that with the development of medical technology, hemophilia patients may be able to live a normal life in the near future. "The latest treatment for hemophilia is gene therapy, which has been listed abroad, very expensive, I see that it is 3.5 million US dollars a shot, and it is still in the research stage in China, but this is a direction, which can edit genes, mutated genes, and genes that have lost their function into genes that have functions and can normally produce clotting factors. ”
What are the daily precautions for hemophilia patients:
☆ Children with hemophilia should be examined once every six months, and adult patients should be examined at least once a year.
☆ Hemophilia patients can be routinely vaccinated with various types of vaccines, and it is recommended to give coagulation factor prophylaxis on the day of vaccination before vaccination, and pay attention to dental and gum health care to prevent bleeding caused by caries and gum disease.
☆ Cultivate good eating habits, reasonable diet, balanced nutrition, and weight control.
☆ Avoid trauma and strenuous exercise, reduce the risk of bleeding, avoid aspirin drugs and antiplatelet aggregation drugs, and avoid intramuscular injection. Reduces infection, which can worsen bleeding tendencies.
☆ When participating in outdoor activities during the non-bleeding period, hemophilia patients should prevent bumps and falls, and avoid strenuous or injury-prone sports. Carry emergency hemostatic medication and items with you during outdoor activities to ensure safety.
☆ Patients with hemophilia can get married and have children, but due to the lack of effective radical measures for hemophilia, screening and prenatal diagnosis are needed to achieve the purpose of eugenics.
Department of Hematology and Oncology, Luwan Branch, Ruijin Hospital
The Department of Hematology and Oncology of Ruijin Hospital, Luwan Branch, Shanghai Jiao Tong University School of Medicine, relies on the strong medical and scientific research team of Ruijin General Hospital, and works closely with many key departments such as cardiology, nephrology, pathology, etc., adhering to the tenet of "small but fine", and is committed to deeply cultivating multiple myeloma, The early and accurate diagnosis and comprehensive treatment of plasma cell M protein diseases such as amyloidosis strive to significantly improve the early diagnosis rate and treatment success rate of such diseases, and form an amyloidosis diagnosis and treatment center in East China and even the whole country, so as to benefit the majority of patients.
Liu Yuanfang, deputy chief physician, works in the Department of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, and is currently the deputy director of the Department of Hematology-Oncology of Luwan Branch of Shanghai Ruijin Hospital, a youth member of the Hematology Translational Medicine Professional Committee of the China Anti-Cancer Association, the secretary-general of the Hematology Transformation Professional Committee of the Shanghai Pharmaceutical Industry Association, and a key member of the Shanghai Emergency Shower Working Group.
His main academic expertise is the accurate diagnosis of lymphoid system and plasma cell diseases such as acute lymphoblastic leukemia, multiple myeloma, amyloidosis, M proteinemia, and comprehensive treatment such as targeted immunochemotherapy, and is committed to related basic and clinical research, responsible for and participated in a number of national projects, and published many papers in domestic and foreign journals such as Leukemia, PNAS and Ebiomedicine as the first author. He has won many clinical and scientific research achievement awards at the hospital, municipal and ministerial levels, and participated in the compilation of more than 10 academic books.