血友病
Overview
血友病 is a bleeding disorder caused by a lack of blood clotting factor. The disorder can be mild, moderate or severe, depending on the level of clotting factor. More than 15,000 people in the United States have hemophilia.
The condition is usually inherited from a parent with a genetic mutation. 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, some people with mild hemophilia may not have 症状 until they're adults.
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. The second most common type is caused by a lack of clotting factor IX, 被称为B型血友病, 也被称为圣诞病, 以斯蒂芬·圣诞节命名, the first person diagnosed with the factor IX deficiency.
血友病 A and B occur almost always in males. 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. Mutations are abnormal changes that occur in a gene. The gene for factor VIII and factor IX is located on the X chromosome, making Hemophila A and B X-linked disorders. 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.
When there is a family history of hemophilia, the mother usually is a carrier and half of her sons and some of her male relatives will have hemophilia. If there is no family history of hemophilia, the disorder is due to a new mutation that occurred either in the affected individual or in the individual's mother, whose carrier state may have gone unnot冰d.
我们治疗血友病的方法
As a federally designated hemophilia 治疗 center, UCSF provides the full range of serv冰s – including diagnosis, 治疗, counseling and education – to patients with all types of hemophilia.
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, he does not bleed faster than a person without hemophilia, 但是止血需要更长的时间. Bleeding also may start again several days after an injury or surgery.
Small cuts or surface bruises usually are not a problem, 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. The person has 6 percent to 49 percent of the normal factor level, and usually bleeds only after serious injury, 创伤或手术. The first episode of bleeding may not occur until adulthood.
- 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. He also may experience occasional bleeding without obvious cause, 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, and may have frequent spontaneous bleeding episodes into the joints and muscles.
A person's severity of hemophilia does not change over time, because factor level is determined by genetics.
诊断
Accurate diagnosis is essential for the optimal management of hemophilia. 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.
Most people with hemophilia are diagnosed at an early age. 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, the testing for hemophilia in your newborn usually occurs soon after birth. 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, until after you learn whether your child has hemophilia.
Some families with a history of hemophilia may want to request prenatal testing, 或者产前检查. 这项测试可以在怀孕早期进行, allowing your family to make informed decisions and preparations. UCSF has genetic counselors who are available to help you with prenatal testing, if desired.
If you are pregnant and think you could be a carrier, 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.
There are three ways to determine if you are a carrier:
- 家谱. If you have a son with hemophilia and have another son, 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. If the clotting factor level in your blood is below 50 percent of normal, you are probably a carrier and have mild hemophilia. If the clotting factor level is above 50 percent, 你仍然可能是携带者, since other conditions can elevate the factor level. 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. We rely on your input to help develop a plan of care that will keep you healthy, active and able to live successfully with the challenges of hemophilia.
The present goal of hemophilia therapy is to raise factor levels, decrease the frequency and severity of bleeding episodes and prevent complications of bleeding. 血友病 治疗 uses clotting factor concentrate, 也称为factor," which is a dried powder form of the clotting factor. It is mixed with water to form a liquid before it is given.
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. Others, called recombinant factor products, are made in a laboratory.
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. Once the blood clot is established and the bleeding has stopped, 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. Early 治疗 will minimize the risk of joint damage.
如果你有轻微的血友病, you may only need to be treated episodically, 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
All factor 治疗s are infused or injected intravenously into a vein. 起初, you will be treated at a hemophilia 治疗 center, 你的十大赌博平台排行榜办公室或急诊室. Later, you may be taught how to administer the factor at home.
无论你是否在家治疗, you should always have factor concentrate at home, since you may need to take it to the emergency room when you need a 治疗. If the decision is made to infuse factor to treat your bleeding episode, the most important thing you can do is to administer it as soon as possible.
After you receive factor 治疗 for a joint bleed, 休息, 冰, compression and elevation (or "RICE") are required. 您还可以从支持设备中受益, such as crutches following a bleed into the knee or ankle, or a sling following a bleed into a muscle or joint in the arm. 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
Acetaminophen is recommended as a safe pain reliever for people with hemophilia. Follow the directions carefully and be sure to take only the recommended amount of the medicine.
Never take any product with aspirin, or acetylsalicylic acid, in it. 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, so read labels very carefully before you take any medication.
Nonsteroidal anti-inflammatory drugs such as Advil, Aleve和Motrin, also may interfere with clotting; these should be used only if you have discussed their side effects with your doctor.
If you have any questions about what is or is not safe for you to take, talk to your doctor or hemophilia medical staff.
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 medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the adv冰 of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
