血友病论文摘要

概述中文名:血友病英文名:hemophilia定义：○血友病是一组遗传性出血性疾病，它是由于血液中某些凝血因子的缺乏而导致的严重凝血功能障碍。根据缺乏的凝血因子不同可分A、B、C三类。前两者为性连锁隐性遗传，后者为常染色体不完全隐性遗传。○血友病是一组先天性凝血因子缺乏，以致凝血活酶生成障碍的出血性疾病。其中包括血友病甲（因子Ⅷ、AHG缺乏），血友病乙（因子Ⅸ缺乏、PTC缺乏）及血友病丙（因子Ⅺ、PTA缺乏）。血友病甲多见，约为血友病乙的七倍。 病因血友病是一组先天性凝血因子缺乏，以致出血性疾病。先天性因子Ⅷ缺乏为典型的性联隐性遗传，由女性传递，男性发病，控制因子Ⅷ凝血成分合成的基因位于X染色体。患病男性与正常女性婚配，子女中男性均正常，女性为传递者；正常男性与传递者女性婚配，子女中男性半数为患者，女性半数为传递者；患者男性与传递者女性婚配，所生男孩半数有血友病，所生女孩半数为血友病，半数为传递者。约30％无家族史，其发病可能因基因突变所致。 因子Ⅸ缺乏的遗传方式与血友病甲相同，但女性传递者中，因子Ⅸ水平较低，有出血倾向。因子X1缺乏，均导致血液凝血活酶形成发生障碍，凝血酶原不能转变为凝血酶，纤维蛋白原也不能转变为纤维蛋白而易发生出血。 症状 由于患者血浆中缺乏某种凝血因子，患者的血管破裂后，血液较正常人不易凝结，因而会流去更多的血。体表的伤口所引起的出血通常并不严重，而内出血则严重得多。内出血一般发生在关节、组织和肌肉内部。当内脏出血或颅内出血发生时，常常危及生命。 关节出血在血友病患者中是很常见的，最常出血的是膝关节、肘关节和踝关节。血液淤积到患者的关节腔后，会使关节活动受限，使其功能暂时丧失，例如膝关节出血后患者常常不能正常站立行走。淤积到关节腔中的血液常常需要数周时间才能逐渐被吸收，从而逐渐恢复功能，但如果关节反复出血则可导致滑膜炎和关节炎，造成关节畸形，使关节的功能很难恢复正常，因此很多血友病患者有不同程度的残疾。 由于每个凝血因子的基因都是一串复杂的序列，即使是同一种类型的血友病患者，相应基因也有所不同，因而其凝血因子的活性水平也不同，据此可将血友病患者分为重型、中型和轻型。 重度血友病患者的血浆中所缺乏的凝血因子的活性程度达不到正常人的3%，一个月内可数次出血，出血常常在没有明显原因的情况下发生，称为自发出血。关节出血很普遍。 中度血友病患者的因子活性程度为正常人的3%至6%，他们的出血常常由小创伤导致，例如运动损伤。关节出血一般在外伤后发生。 轻度血友病患者的因子活性程度为正常人的6%至25%，一般只在外科手术、拔牙或严重外伤后出血不止。关节出血较少。Summary Chinese: Hemophilia English: hemophilia Definition: ○ Hemophilia is a group of hereditary bleeding disorders, it is because of certain blood clotting factor caused by the lack of serious coagulation disorder. According to the lack of clotting factor can be divided into different A, B, C three categories. The first two sex linked recessive genetic, and the latter is not entirely autosomal recessive inheritance. ○ Hemophilia is a group of congenital lack of coagulation factor, which activated coagulation obstacles generation of hemorrhagic disease. Including hemophilia A (factor Ⅷ, lack of AHG), Hemophilia B (factor Ⅸ lack of a lack of PTC) and hemophilia C (Ⅺ factor, the lack of PTA). Hemophilia A Most of Hemophilia B is about seven times. Etiology Hemophilia is a group of congenital lack of clotting factor that hemorrhagic disease. Congenital Factor Ⅷ typical of the lack of recessive genetic, transmission from women, men disease control Ⅷ clotting factor components of the X chromosome genes. Sick men and women of normal marriage, children were normal male, female transmission; normal male and female carriers marriage, children, half of the patients in the male, female half of the message; patients were male and female mating transfer, born male Hasbro half of hemophilia, von Willebrand half of girls born, half of them are carriers. About 30% had no family history, the incidence may be caused by gene mutations. Genetic factor Ⅸ lack of hemophilia A and the same way, but female carriers, the relatively low level of factor Ⅸ, bleeding tendency. X1 factor lack of blood coagulation resulted in a live enzyme obstacles, prothrombin to thrombin can not change, nor fibrinogen to fibrin easily change occurred bleeding. Symptoms As in the plasma of patients with a lack of a clotting factor, in patients with vascular rupture, difficult than normal blood coagulation, which will more blood to flow. Superficial wounds caused by bleeding usually is not serious, and bleeding was much more serious. General hemorrhage occurred in joints, muscles and internal organization. When visceral bleeding or intracranial hemorrhage occurred, often life-threatening. Bleeding in the joints in patients with hemophilia is common, is the most common bleeding knee, elbow and ankle. Patients with blood deposition to the joint cavity, make joint activities limited to temporary loss of function, such as bleeding after knee patients often do not stand up to normal walking. Deposition in the joint cavity of blood often need a few weeks time to gradually absorb, and then to gradually recover, but if repeated bleeding could lead to joint synovitis and arthritis, a joint deformities, joint difficult to resume normal function, So many haemophiliacs who have varying degrees of disability. As each of clotting factor gene sequence is a string of complex, even the same type of haemophiliacs, the corresponding genes also vary, hence its clotting factor activity level is different, which can be sub-haemophiliacs heavy, medium and light. Severe haemophiliacs in the plasma clotting factor in the lack of activity of the normal level of less than 3 per cent, several times within one month can be bleeding, and bleeding in the absence of obvious reasons often occur under circumstances where, as spontaneous bleeding. Joint bleeding is widespread. Von Willebrand factor in patients with moderate activity level for the normal 3-6%, they are often the bleeding caused by the small trauma, such as sports injuries. Joint general in the post-traumatic hemorrhage occurred. Von Willebrand factor in patients with mild degree of activity of the normal 6-25 percent, generally in the surgery, tooth extraction or more serious post-traumatic bleeding. Less bleeding joints.

人血蛋白八因子。