1 disease profile
2 Classification of Diseases
3 etiology and pathogenesis
4 Clinical manifestations
5 Diagnostics
6 disease treatment
6.1 General hemostasis 6.2 6.3 clotting factor replacement therapy drug therapy family therapy 6.5 6.4 6.6 Other surgical treatments7 prevent bleeding
8 disease prevention
1 disease Introduction Hemophilia is a group of hereditary coagulation factor deficiency caused by bleeding disorders. Clotting factors in the human body caused by a group of blood coagulation, hemostasis function with biologically active proteins, the main factor is available in 13, used as Roman numerals: I, II .... XIII (i.e. factor one,R4i 3DS, two ... to thirteen). If there is a lack of blood clotting factors, blood coagulation is not easy to cause hemorrhagic disease. 2 Classification of Diseases, hemophilia clotting factor according to their lack of different kinds can be divided into: (1). Hemophilia: is due to clotting factor eight (ie Ⅷ) deficiency, also known as hemophilia A,R4i SDHC v1.4.5, is Clinically, the most common hemophilia, hemophilia population accounts for about 80% -85%, and in some areas of high or even higher. (2). Hemophilia B: is due to clotting factor nine (ie IX) deficiency, also known as hemophilia B, hemophilia clinical representing rare, accounting for about 15% of the number of hemophilia. (3). Hepatitis hemophilia: a lack of clotting factor eleven (ie Ⅺ deficiency, also known as foreign Rosenthal syndrome). Ⅺ deficiency is extremely rare in our country. (4). Acquired hemophilia (ie, acquired coagulation factor deficiency): Because of its factors often lead to some reduction in the level of coagulation factors, or decreased activity, such as acquired coagulation factor eight (Ⅷ) deficiency, often due to self-generated Ⅷ factor antibodies, resulting in coagulation dysfunction, leading to acquired hemophilia (hemophilia). 3 etiology and pathogenesis of hemophilia A, B belong to the sex-linked recessive genetic disease, hemophilia and hepatitis C (Ⅺ hereditary deficiency) compared with autosomal recessive genetic disease. In our country the majority of hemophilia main causative gene located on the X chromosome women, but also that women carry genes that lead to the next generation of male disease, but the next generation of women are normal. Therefore, patients often have a family history of hemophilia, common genetic pattern is: Women from the previous generation to obtain disease gene (carriers, not the disease), and then passed on to the next generation of men, also known as "atavistic." 4 Typical clinical manifestations of hemophilia often childhood disease, either spontaneously or after mild traumatic coagulopathy and bleeding can not be stopped spontaneously; resulting in trauma, surgery often bleeding, severe in less strenuous activities could also be spontaneous bleeding, especially bleeding joints, muscles and other bleeding, leading to severe joint swelling and muscle necrosis, seizures can affect long-term growth and development of bones and joints, leading to joint deformities and muscle atrophy, resulting in the limbs (mainly the lower limbs) activity difficulties, severe those who can not walk. Hemophilia bleeding is characterized by: (1) bleeding: mostly mild trauma, surgery later; (2) innate, accompanied by lifelong; (3) usually soft tissue or deep intramuscular hematoma; (4 ) weight-bearing joints knee, ankle and other recurrent bleeding is very strong, and ultimately can cause joint deformities, may be associated with osteoporosis, joint ossification and the corresponding muscle atrophy (hemophilia joints). (5) the incidence of bleeding and blood type and severity of factor deficiency related degree. In hemophilia, for example,R4i Gold, based on plasma Ⅷ activity (ie Ⅷ clotting activity, normal is 100%), hemophilia can be divided into four types, as follows: the severity of hemophilia typing and Ⅷ activity (%) clinical bleeding Features Heavy Duty <1 joints, muscles, deep tissue bleeding, joint deformities, fake cancer; may have hemoptysis, hematemesis, intracranial hemorrhage Medium 1-5 joints, muscles, deep tissue bleeding, joint deformity, lighter light 5-25 joints, muscles bleeding rarely, no joint deformity subclinical 25-45 only severe bleeding after trauma or surgery addition, hematoma compression symptoms and signs,Monster Beats, common are: (1) hematoma peripheral nerve compression can cause local pain, numbness and muscle atrophy; (2) pressure vessels, ureter causing symptoms; (3) oppression abdominal cavity and other organs, affecting the function of internal organs. 5 diagnostic hemophilia (usually male incidence), in addition to the above genetic history and bleeding symptoms, but also need to further check the following: (a) blood test: normal platelet count, hemoglobin decrease severe bleeding. (2) coagulation detection: thrombin (PT) times normal, partial thromboplastin time (APTT) prolonged significantly prolonged heavy, light slightly prolonged subclinical normal. (3) Other detection: Ⅷ often need to detect clinically diagnosed clotting activity. For any degree of hemophiliacs fully diagnosed through genetic testing can be further other means, such as the commonly used PCR and gene chip technology. In addition, there should exclude other causes clotting factor deficiency; such as rodent poisoning caused by clotting factor deficiency bleeding, anticoagulant drugs such as warfarin and other causes of bleeding. 6 general hemostasis treatment of diseases such as the use of antifibrinolytic drugs and generally promote platelet aggregation hemostatic drugs. For severe bleeding caused by joint and muscle hematoma, you can use bandage or sandbags and other local oppression and cold compresses to stop bleeding. . Clotting factor replacement therapy as the primary therapy, which supplement the missing clotting factor. Main methods are: ①: fresh frozen plasma (containing all the human blood clotting factor), the condition of daily / per 200-400 ml range. ②: plasma cryoprecipitate (containing mainly Ⅷ and fibrinogen, which Ⅷ relatively high plasma concentrations of 5 to 10 times), according to the disease, every day infusion of 10-20 IU (international units) range. ③: prothrombin complex concentrate (containing X, Ⅸ, Ⅶ, Ⅱ), as a general replacement therapy. ④: Blood extraction Ⅷ concentrated formulations,Monster Beats, or recombinant activated Ⅷ preparations (different manufacturers, different specifications). The use of coagulation factors: According Ⅷ clotting activity, according to the following formula: first input activated Ⅷ (or Ⅸ) Dose (IU) = body weight × desired level of activity increase (%) ÷ 2. Minimum Requirements Ⅷ hemostatic level of 20% or more, severe bleeding, or like the line above medium surgery, should make Ⅷ or Ⅸ activity levels of 40% or more. ⑤: recombinant human activated factor Ⅶ (rF Ⅶ a, seven activating factor): useful for the prevention or treatment of deficiency Ⅸ Ⅷ or bleeding in patients with severe hemophilia, usual dose is 90g/kg, every 2 to 3 hours of intravenous injection, until the bleeding stops. Drug treatment than clotting factor replacement therapy, such as using: desmopressin (desmopressin, DDAVP), Danazol (danazol) and corticosteroids improve vascular permeability and so on. Family therapy Family therapy in patients with hemophilia has been widely used in foreign countries. Hemophilia patients and their families should receive the relevant disease pathology, physiology, diagnosis and treatment knowledge, education, family therapy should initially conducted under the guidance of professional doctors. In addition to teach injection technique, but also including hematology, orthopedics, mental,Monster Beats Earphones, psychological as well as AIDS, viral hepatitis prevention knowledge. Surgical treatment of bleeding in the relevant section of replacement therapy should be performed while fixed and physical therapy and other treatment. To repeated joint bleeding caused ankylosis and deformity patients, can add enough clotting factor in the premise, the line forming or joint arthroplasty. Other treatments such as through different gene therapy, the patient's body so that a sufficient amount of clotting factor expression,Monster Beats by dre Pro, at present, these methods are still in clinical trials, has not been fully used clinically. [1] 7 prevent bleeding prevention of bleeding is more important than the alternative treatment, including: (1) strengthen the mission and avoid strenuous activities to encourage appropriate physical activity; (2) avoid the use of antiplatelet drugs; (3) Avoid intramuscular injection; (4) For surgery should supplement the lack of preoperative coagulation factors; (5) conditions should be regular preventive supplement corresponding clotting factor. (6) Hemophilia is a lot of contraindications invasive procedures such as extractions, bone marrow puncture, surgery and so on. Infusion of clotting factor is not given before the intervention, to avoid blind operation. 8 Disease Prevention slang speak it well and take preventive measures. Since hemophilia is leading the next generation of women carrying male disease, then you can carry the pregnancy after prenatal diagnosis, prenatal and postnatal care. Especially for families with hemophilia female patients, genetic testing should be done. For family history but no gene carried by women, pregnancy can be assured of delivery under the normal procedure. For female carriers, preferably after pregnancy (usually 12-14 weeks) do gender identification, if the fetus is female, you can press the center to do a normal term delivery, if the fetus is male, then the need for amniocentesis, etc. DNA extraction detecting the severity of hemophilia,Beats by dre Solo HD, or by umbilical cord blood (approximately 16-18 weeks of gestation) sampled to measure the degree of deficiency of coagulation factors, the actual situation to determine whether a therapeutic abortion, especially in severe fetal clotting factor lack of pregnant women should seek termination of pregnancy. In addition, with the current IVF third generation technology, women can be gene carriers in vitro fertilization, the fertilized in vitro by genetic testing to determine whether the gene carrying, resulting in a large number of embryos, the selection of the most healthy women without gene carrying embryos implanted into the mother's womb to give birth to a healthy baby sure. Therefore, prenatal and postnatal care not only to a family history of hemophilia families after marriage happiness, but also for the next generation gave birth to a healthy seeds.