On the occasion of World Hemophilia Day, experts pointed out -
Build a prevention and treatment network to improve the quality of life of
"glass people"
Although hemophilia has not been completely cured so far, if hemophilia patients can start regular coagulation factor replacement therapy as soon as possible, repeated bleeding in joints, muscles and other parts can be avoided. In addition, the awareness of hemophilia patients and their family members about the disease, and whether they can consciously cooperate with medical staff for treatment, are very important links in the prevention and treatment of hemophilia.
◎ Intern reporter Shen Wei
April 4 this year is the 17th "World Hemophilia Day", with the theme of "Accessible to All: Preventing Bleeding", aiming to raise the attention and support of the whole society to hemophilia, scientifically prevent and treat bleeding, optimize prevention and treatment strategies, improve standardized diagnosis and treatment capacity and care management level, and promote the opportunity for everyone to enjoy treatment.
People with hemophilia, often referred to as "glass people", need to be attentive everywhere in their daily lives and not bump a little, because a small wound can make them bleed. Although there is no cure for hemophilia, the advancement of science and technology, the improvement of medical policies and the attention of society are gradually improving the quality of life of hemophilia patients.
The prevalence of hemophilia is higher in men than in women
"Hemophilia is an X chromosome-linked recessive bleeding disorder, including hemophilia A and hemophilia B." Professor Yang Renchi, director of the Thrombostasis and Hematology Diagnosis and Treatment Center of the Hematology Hospital (Institute of Hematology) of the Chinese Academy of Medical Sciences, introduced that hemophilia A is manifested by coagulation factor VIII (FVIII.) deficiency, and hemophilia B is manifested by coagulation factor IX. (FIX.) deficiency, both of which are caused by corresponding coagulation factor gene mutations.
The clinical manifestations of the two are basically the same, mainly manifested as joint, muscle and deep tissue bleeding, gastrointestinal, urinary tract, central nervous system bleeding, and bleeding after tooth extraction. If recurrent bleeding, untreated can lead to joint deformity, pseudotumor formation, and even life-threatening in severe cases.
In order to investigate the prevalence of hemophilia in China, Professor Yang Tianying of the Hematology Hospital of the Chinese Academy of Medical Sciences initiated the establishment of the National Hemophilia Research Collaborative Group in 1985, and organized 1986 regions in 1988 provinces and cities to investigate hemophilia in 24-37, and preliminarily found that the prevalence of hemophilia in China was 2.73/10^5 population.
The prevalence of hemophilia is higher in men than in women. This is because the causative gene of hemophilia is on the X chromosome, and the male has only one X chromosome, and once the X chromosome carries the disease-causing gene, the male must be a hemophilia patient. A woman has two X chromosomes, even if one X chromosome carries the disease-causing gene, if the other X chromosome is normal, it can compensate for some functions, and the woman may be a carrier and not have the disease. If the X chromosome, which does not carry the disease-causing gene, is inactivated for various reasons, then the woman will also become a hemophilia.
In addition to this, there is another type of acquired hemophilia. This is an acquired FVIII. or FIX. deficiency, due to autoimmune diseases, malignant tumors, perinatal, drugs and other reasons, patients produce autoantibodies against FVIII. or FIX., so that FVIII. or FIX. is destroyed too much, so that the activity of FVIII. or FIX. in peripheral blood is reduced.
The severity of bleeding in patients with hemophilia correlates with the degree of FVIII or FIX. deficiency. FVIII. or FIX. activity level <1%, for heavy duty; FVIII. or FIX. activity level between 1% and 5%, intermediate type; FVIII. or FIX. activity levels between 5% and 40% are lightweight.
"Theoretically, hemophilia can be diagnosed in the fetal period, but not all hemophilia patients have a family history, and genetic mutations may also occur during the formation of fertilized eggs." Yang Renchi said that even with a family history, prenatal diagnosis is not guaranteed to be absolutely accurate.
Scientific research advances promote the diagnosis and treatment of hemophilia
The mainstay of treatment for hemophilia is intravenous coagulation factor replacement therapy, which improves the quality of life of people with hemophilia but does not cure it. Yang Renchi introduced that the most likely cure for hemophilia is gene therapy. Gene therapy is widely used in the treatment of blood diseases, and has been used for hemophilia treatment for more than 20 years.
In recent years, gene therapy products for hemophilia have been approved for clinical use in Europe and the United States. In 2022, Hemgenix, the world's first gene therapy drug for hemophilia B, was approved by the US Food and Drug Administration (FDA). The drug is priced at US$350.2500 million (about <> million yuan) a dose, making it the most expensive drug in the world.
China's research on hemophilia gene therapy started not late, and has achieved certain breakthroughs in recent years. In 2022, Yang Renchi participated in Asia's first liver-targeted adeno-associated virus hemophilia B gene therapy research that achieved remarkable results, and the relevant results were published in the international medical journal The Lancet Hematology. The results of this clinical study showed that after 10 hemophilia patients received gene therapy for an average of 58 weeks, the coagulation factor level increased from less than 2% before treatment to an average of 36.93%, confirming the efficacy and safety of liver targeting adeno-associated viral vectors in Chinese hemophilia patients. At present, several gene therapy products in China are undergoing clinical trials and are expected to be approved in the near future.
Although hemophilia has not been completely cured so far, if hemophilia patients can start regular coagulation factor replacement therapy as soon as possible, repeated bleeding in joints, muscles and other parts can be avoided. Yang Renchi said that hemophilia patients and their family members' understanding of the disease, and whether they can consciously cooperate with medical staff for treatment, are very important links in the prevention and treatment of hemophilia. "In addition, hemophilia patients should try to avoid aspirin-type drugs that inhibit platelet function. If rehabilitation or physical activity is performed, it should also be done under the guidance of an experienced hemophilia center professional. He said.
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 China, and to achieve this, it is necessary to establish a national hemophilia prevention and treatment organization. Yang Renchi introduced that with the support of the World Hemophilia Alliance, 6 hemophilia centers in China initiated the establishment of the Chinese Hemophilia Collaborative Group in 2004, and established 4 working groups of registration, experimental diagnosis, nursing and rehabilitation physiotherapy, followed by a pediatric working group in 2008.
In November 2009, China began to establish an information management system for hemophilia cases, aiming to comprehensively understand the basic information of hemophilia patients in China and the clinical application of coagulation factor products, further standardize the diagnosis and treatment of hemophilia in 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 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 China's hemophilia centers in 2020. So far, a total of 241 hospitals have entered data into the national hemophilia case information management system, and more than 4,<> cases have been recorded, and the prevention and treatment level of hemophilia in 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.