血友病
Overview
血友病是一种由缺乏凝血因子引起的出血性疾病. The disorder can be mild, moderate or severe, depending on the level of clotting factor. 美国有超过1.5万人患有血友病.
这种情况通常遗传自父母的基因突变. 然而, 在大约三分之一的患者中, there is no family history of the disease and the disorder is caused by a new genetic mutation. Although most children with hemophilia have signs of bleeding during infancy or childhood, 一些患有轻度血友病的人可能直到成年后才出现症状.
血友病的类型
最常见的血友病, 是由于缺乏凝血因子VIII引起的, 叫做A型血友病, 或者是典型的血友病. 第二种最常见的类型是由于缺乏凝血因子IX引起的, 被称为B型血友病, 也被称为圣诞病, 以斯蒂芬·圣诞节命名, 第一个被诊断出缺乏IX因子的人.
血友病A和B几乎总是发生在男性身上. 第三个, 非常罕见的血友病, 有时被称为血友病C, 是由于缺乏凝血因子XI引起的吗, 男性和女性都有.
血友病的原因
血友病 A and B are caused by genetic mutations in the gene for factor VIII or factor IX. 突变是基因中发生的异常变化. 因子VIII和因子IX的基因位于X染色体上, 导致血友病A和B x连锁疾病. 像这样, one copy of the abnormal factor VIII or factor IX gene results in hemophilia in males, 而女性则处于携带者状态.
有血友病家族史者, the mother usually is a carrier and half of her sons and some of her male relatives will have hemophilia. 如果没有血友病家族史, the disorder is due to a new mutation that occurred either in the affected individual or in the individual's mother, 谁的载体状态可能被忽视了.
我们治疗血友病的方法
作为联邦指定的血友病治疗中心, 加州大学旧金山分校提供包括诊断在内的全方位服务, 治疗, 为所有类型的血友病患者提供咨询和教育.
我们相信要治疗整个人. We emphasize listening to our patients and developing personalized care plans that address all the medical and emotional aspects of living with a bleeding disorder.
奖 & 识别
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是全国顶尖的十大赌博平台排行榜之一
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Designated hemophilia 治疗 center (Centers for Disease Control and Prevention)
迹象 & 症状
The most common symptom of hemophilia is bleeding, particularly into the joints and muscles. 当血友病患者受伤时, 他的出血速度并不比没有血友病的人快, 但是止血需要更长的时间. 出血也可能在受伤或手术后几天再次开始.
小伤口或表面擦伤通常不是问题, but deeper injuries may result in bleeding episodes that can lead to permanent disability unless they are treated promptly.
Other 症状 of hemophilia include easy bruising, prolonged nosebleeds or vomiting of blood.
血友病的症状和严重程度
血友病可发生在轻度, 中度和重度, based on both the patient's 症状 and the level or amount of clotting factor in the blood.
- 轻微的血友病. 这个人只有正常水平的6%到49%, 通常在严重受伤后才会出血, 创伤或手术. 第一次出血可能要到成年后才会发生.
- 温和的血友病. The person has 1 percent to 5 percent of the normal factor level and has bleeding episodes after injuries, 重大创伤或手术. 他也可能偶尔出血，没有明显的原因, 称为自发性出血发作.
- 血友病严重. The person has less than 1 percent factor level and experiences bleeding following an injury or surgery, 并可能有频繁的自发性出血进入关节和肌肉.
一个人血友病的严重程度不会随着时间的推移而改变, 因为因素水平是由基因决定的.
诊断
准确的诊断对血友病的最佳治疗至关重要. Testing for hemophilia should be performed at a highly experienced specialized coagulation laboratory. Laboratories that do not frequently perform these specialized tests may not be able to accurately establish a diagnosis.
大多数血友病患者在很小的时候就被诊断出来. 然而, those with mild hemophilia may not be diagnosed until adulthood when they experience a bleeding episode due to 创伤或手术.
血友病 is diagnosed with blood tests to determine if clotting factors are missing or at low levels, 哪些是造成问题的原因. 如果你有血友病家族史, it is important that your doctors know the clotting factor your relatives are missing. 你可能会错过同样的一个.
如果你知道自己是血友病携带者, 新生儿血友病检测通常在出生后不久进行. These tests can be run on blood obtained from the umbilical cord or drawn from the newborn's vein. 你可能会被建议推迟一些程序, 比如割礼, 直到你知道你的孩子是否患有血友病.
一些有血友病病史的家庭可能会要求进行产前检查, 或者产前检查. 这项测试可以在怀孕早期进行, 让你的家人做出明智的决定和准备. UCSF has genetic counselors who are available to help you with prenatal testing, if desired.
如果你怀孕了，并认为你可能是一个携带者, or if you have a child diagnosed with hemophilia and are expecting another child, 告诉你的产科十大赌博平台排行榜是很重要的.
有三种方法可以确定你是否是携带者:
- 家谱. 如果你有一个患有血友病的儿子还有一个儿子, 哥哥, 父亲, 叔叔, 堂兄或祖父患有这种疾病, 那么你就是一个载体. 不需要额外的测试.
- 凝血因子. 如果血液中的凝血因子水平低于正常水平的50%, 你可能是携带者，有轻微的血友病. 如果凝血因子水平高于50%, 你仍然可能是携带者, 因为其他十大赌博靠谱网络平台可以提高因子水平. 其他测试可能是必要的.
- DNA测试. A DNA测试 can look for the mutation that caused hemophilia in your son or another relative, 并与你的DNA进行比较.
治疗
Our health care team can help you decide which is the best 治疗 option for you. 我们依靠你的意见来帮助制定一个能让你保持健康的护理计划, 积极主动，能够成功地面对血友病的挑战.
目前血友病治疗的目标是提高因子水平, decrease the frequency and severity of bleeding episodes and prevent complications of bleeding. 血友病治疗使用凝血因子浓缩物, 也称为factor,这是一种干粉形式的凝血因子. 在给药前与水混合成液体.
一些凝血因子产品, 称为血浆衍生因子产物, 是由捐献的人类血浆制成的吗. 其他的被称为重组因子产品，是在实验室里制造的.
凝血因子 concentrate is injected into your vein soon after you have had an injury or show signs of bleeding. 当给定凝血因子时, it immediately circulates in the blood so the body can use it to form a blood clot. 一旦血凝块形成，血流停止, the body begins to reabsorb the blood that has leaked into the tissues and joints.
如果你没有得到及时治疗, extra blood can pool in the joint or soft tissue and cause pain and swelling that takes longer to go away. Over time, repeated bleeding into a joint can lead to severe joint damage and arthritis. 早期治疗可以减少关节损伤的风险.
如果你有轻微的血友病, 你可能只需要偶尔治疗, 这是, 每次你出血的时候. If your hemophilia is moderate or severe, your hemophilia may require more frequent 治疗.
回家治疗
所有因子治疗都是通过静脉输注或注射到静脉中. 起初, 你将在血友病治疗中心接受治疗, 你的十大赌博平台排行榜办公室或急诊室. 之后，你可能会被教导如何在家里管理这个因素.
无论你是否在家治疗, 你应该经常在家里吃浓缩素, 因为当你需要治疗时，你可能需要把它带到急诊室. 如果决定注射因子来治疗你的出血, 你能做的最重要的事情就是尽快使用它.
在你接受了关节出血的因子治疗之后, 休息, ice, 压缩和仰角(或“RICE”)是必需的. 您还可以从支持设备中受益, 例如膝盖或脚踝出血后的拐杖, 或者是手臂肌肉或关节流血后的吊带. Depending on the site of the bleed, you may have to limit activities for a few days after a bleed.
非处方药物
对乙酰氨基酚被推荐为血友病患者的安全止痛药. Follow the directions carefully and be sure to take only the recommended amount of the medicine.
不要服用任何含有阿司匹林或乙酰水杨酸的产品. 阿司匹林会妨碍凝血. 许多常见的家庭疗法, 比如苏打水, 含有阿司匹林, 所以在服用任何药物之前都要仔细阅读标签.
非甾体抗炎药，如Advil, Aleve和Motrin, also may interfere with clotting; these should be used only if you have discussed their side effects with your doctor.
如果你对什么是安全的，什么是不安全的有任何疑问, 和你的十大赌博平台排行榜或血友病医务人员谈谈.
实验治疗
Research into such 治疗s as gene therapy and longer acting clotting factor concentrate is ongoing. The UCSF 血友病 Treatment Center routinely participates in clinical trials involving new therapies.
加州大学旧金山分校健康医学专家已经审查了这些信息. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
