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Hemofilia

Hemofilia clásica: tipos, síntomas y tratamiento

little boy's looking at his arm that is wrapped in bandage

La coagulación es necesaria para detener el sangrado y es esencial para la cicatrización de heridas. Sin embargo, aquellos con hemofilia no son capaces de producir los niveles necesarios de ciertos factores de coagulación y, por tanto, experimentan consecuencias para la salud.

La hemofilia es un trastorno genético poco común en el que la sangre de una persona tiene dificultades para coagularse, lo que provoca dolor y graves problemas de salud.

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Tipos de hemofilia

Según el Centro para el Control y la Prevención de EnfermedadesLas dos formas más comunes de esta enfermedad son:

  • Hemofilia A (hemofilia clásica) en la que una persona tiene niveles insuficientes de factor de coagulación VIII (8)
  • Hemofilia B (enfermedad de Christmas) causada por niveles bajos del factor de coagulación IX (9).

Este último es menos común, pero ambas afecciones tienen los mismos síntomas.

¿Cuáles son los síntomas?

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.

¿Quién está en riesgo y cómo hacerse la prueba?

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.

Opciones de tratamiento para la hemofilia

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

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  • 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.

Manejo del dolor

Pain medicine may be needed to relieve discomfort from joint or muscle bleeds. However, some medications—such as aspirin and many medicamentos antiinflamatorios no esteroides (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.

Conclusión

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 Cuidado especializado AmeriPharma® 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.

Esta información no sustituye el consejo ni el tratamiento médico. Consulte a su médico o profesional de la salud sobre su afección médica antes de comenzar cualquier tratamiento nuevo. AmeriPharma® Specialty Care no asume ninguna responsabilidad por la información proporcionada ni por ningún diagnóstico o tratamiento realizado como resultado, ni se responsabiliza de la fiabilidad del contenido. AmeriPharma® Specialty Care no opera todos los sitios web/organizaciones aquí mencionados, ni se responsabiliza de la disponibilidad o fiabilidad de su contenido. Estos listados no implican ni constituyen un respaldo, patrocinio ni recomendación por parte de AmeriPharma® Specialty Care. Esta página web puede contener referencias a medicamentos recetados de marca que son marcas comerciales o marcas registradas de fabricantes farmacéuticos no afiliados a AmeriPharma® Specialty Care.
Dr. Mark Alfonso
REVISADO MÉDICAMENTE POR Dr. Mark Alfonso, PharmD, BCMTMS

El Dr. Mark Alfonso, doctor en farmacia, nació y creció en Pueblo, Colorado. Obtuvo su título en farmacia en la Facultad de Farmacia de la Universidad de Colorado, en el Campus Médico Anschutz, en 2010. Obtuvo su certificación en gestión de terapias farmacológicas en 2022. Lo más gratificante de su trabajo es ayudar a responder las preguntas e inquietudes de los pacientes. Sus áreas de especialización son la farmacia comunitaria y la gestión de terapias farmacológicas. En su tiempo libre, disfruta de la lectura y correr.

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