经典血友病：类型、症状和治疗

凝血是止血的必要条件，也是伤口愈合的关键。然而， 血友病 无法产生必要水平的某些凝血因子，因此会对健康造成影响。

血友病是一种罕见的遗传性疾病，患者血液难以凝结，从而导致疼痛和严重的健康问题。

血友病的类型

根据 疾病控制中心，这种疾病最常见的两种形式是：

• 血友病 A（经典血友病），患者的凝血因子 VIII 水平不足 (8)
• 由凝血因子 IX 水平低引起的血友病 B（Christmas 病）（9）。

后者不太常见，但两种情况都有相同的症状。

有哪些症状？

Symptoms of hemophilia depend largely on how low the clotting factor levels are: mild, moderate, or severe.

Mild Hemophilia

People with mild hemophilia may not bleed more often than usual in daily life, but they can experience longer-than-normal bleeding after surgery, dental work, injuries, or deep cuts. Bruising may also occur more easily than in people without hemophilia.

Moderate Hemophilia

People with moderate hemophilia may experience bleeding after minor injuries, surgery, or dental procedures and may sometimes have spontaneous bleeding episodes, especially into joints and muscles. These bleeds may not be as frequent as in severe hemophilia but still require prompt treatment.

Severe Hemophilia

Someone with severe hemophilia is more likely to experience spontaneous internal bleeding, especially into the joints and muscles. These bleeds can cause swelling, warmth, bruising, and severe pain, and over time can lead to chronic joint damage if not treated quickly. People with hemophilia may also experience frequent nosebleeds, prolonged bleeding from cuts, and sometimes blood in the urine or stool.

谁面临风险以及如何接受检测

Hemophilia is usually caused by a change (mutation) in a gene that provides instructions for making clotting factor. It is typically inherited and present at birth. Because the gene is located on the X chromosome, hemophilia is more common in males. Women who carry the gene may be “carriers,” but many carriers also have low clotting factor levels and can experience symptoms similar to mild hemophilia, such as heavy menstrual bleeding or easy bruising.

If you have a family history of hemophilia, including women known to be carriers, it is important to talk with your doctor about testing. Hemophilia is diagnosed through blood tests that measure clotting factor levels and overall clotting function. In some cases, genetic testing may be recommended to confirm the diagnosis or identify carriers in the family.

血友病治疗方案

After being diagnosed with hemophilia, it is important to begin appropriate treatment as soon as possible.

• On-demand treatment: People with mild hemophilia may only need treatment when bleeding occurs. This usually involves infusing the missing clotting factor to stop active bleeding and prevent complications.

• Prophylactic (preventive) treatment: People with moderate to severe hemophilia often receive regular prophylactic treatment, which involves infusing clotting factor on a schedule (such as several times per week) to keep levels high enough to reduce or prevent spontaneous bleeds. This approach helps protect joints and improves long-term quality of life.

疼痛管理

Pain medicine may be needed to relieve discomfort from joint or muscle bleeds. However, some medications—such as aspirin and many 非甾体抗炎药 (NSAIDs)—can affect platelet function and increase bleeding risk. Patients should only use pain relievers that are considered safe for people with bleeding disorders and should always consult their doctor or hemophilia treatment center before taking any new medication.

Inhibitors: When the Body Rejects Treatment

About 15%–20% of people with hemophilia A, and a smaller percentage with hemophilia B, develop inhibitors—antibodies that the immune system forms against infused clotting factor. These inhibitors prevent the treatment from working effectively because the body “rejects” the supplemental factor. When inhibitors develop, patients often need alternative or specialized treatments, which can be more complex and costly. Close monitoring by a hematologist or hemophilia treatment center is essential to manage inhibitors and adjust therapy.

结论

In recent years, treatment for hemophilia has become much more effective, allowing many people with the condition to live healthy, active, and productive lives. The key is to seek treatment early, follow a personalized care plan, and work closely with specialists to manage symptoms and prevent complications. Ask your doctor about working with AmeriPharma® 专业护理 to help manage hemophilia. Our dedicated pharmacists are available 24/7/365 to answer your questions, coordinate your medication, and support you throughout your treatment journey.