Hemophilia: Causes, Symptoms, and Treatment
Hemophilia is a rare genetic bleeding disorder that prevents blood from clotting properly, leading to prolonged bleeding and potential joint or organ damage. Learn about its causes, symptoms, diagnosis, and treatment options.
What is Hemophilia?
Hemophilia, also known as the bleeding disorder, is a rare inherited condition caused by mutations in specific genes responsible for blood clotting. This disorder leads to a deficiency or absence of one or more clotting factors, which are proteins necessary for proper blood coagulation.
As a result, people with hemophilia bleed longer after injuries, and in severe cases, spontaneous bleeding may occur inside the body — potentially damaging tissues and organs.
The severity of the disease depends on the level of clotting factors in the blood — the lower the level, the more severe the symptoms.
Types of Hemophilia
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Hemophilia A (Classical Hemophilia) – caused by a deficiency in clotting factor VIII.
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Hemophilia B (Christmas Disease) – caused by a deficiency in factor IX.
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Hemophilia C – caused by a deficiency in factor XI.
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Acquired Hemophilia – not inherited; occurs when the body develops antibodies that attack clotting factors. The cause is often unknown and can lead to abnormal bleeding in muscles and tissues.
Risk Factors
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Family history of hemophilia
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Male gender (men are more likely to be affected than women)
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Cancer
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Multiple sclerosis
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Certain drug reactions
Common Symptoms
Symptoms of hemophilia can range from mild to severe and may include:
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Repeated vomiting
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Drowsiness or fatigue
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Double vision
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Joint stiffness or swelling due to internal bleeding
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Weakness and imbalance
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Easy bruising or hematomas
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Gum and mouth bleeding
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Blood in urine or stool
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Frequent nosebleeds
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Excessive bleeding after circumcision (in newborn boys)
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Heavy menstrual bleeding or excessive bleeding after childbirth (in women)
Diagnosis
Hemophilia is diagnosed through blood tests that measure the levels of clotting factors.
Diagnostic methods include:
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Family medical history review
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Laboratory testing to evaluate blood clotting time and determine the specific type and severity of hemophilia
Treatment Options
Although there is no permanent cure for hemophilia, treatment focuses on preventing bleeding episodes and managing complications, especially those involving the head or joints.
Treatment includes:
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Replacement therapy: Regular infusion of the missing clotting factor to prevent or control bleeding.
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Genetically engineered clotting factor medications: Long-acting treatments administered intravenously or under the skin.
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Preventive (prophylactic) therapy: Medications used to reduce the risk of bleeding episodes.
Tips for Living with Hemophilia
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Undergo an annual comprehensive medical check-up.
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Get vaccinated against hepatitis A and B.
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Treat bleeding episodes early and properly.
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Always manage joint bleeding under medical supervision.
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Maintain a healthy weight to protect your joints.
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Avoid NSAIDs (nonsteroidal anti-inflammatory drugs) like aspirin, as they interfere with blood clotting.
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Consult your doctor before any surgery or dental procedure.
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Protect children from injuries and sharp objects at home or elsewhere.
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Parents should learn how to identify signs of bleeding.
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Avoid contact sports such as football or wrestling.
Frequently Asked Questions (FAQ)
1. Can patients with hemophilia take aspirin or blood thinners?
No. People with hemophilia should avoid aspirin and other NSAIDs, as these medications can increase bleeding.
2. Are there drugs that can worsen bleeding?
Yes. Some antidepressants, anticoagulants, and blood-thinning medications may exacerbate bleeding, so always consult a doctor before using any medication.
3. Can hemophilia be detected during pregnancy?
Yes. Prenatal testing can determine whether the fetus has hemophilia.
Possible Complications
Untreated or poorly managed hemophilia may lead to:
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Deep internal bleeding
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Pain and swelling
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Bleeding into the throat or neck
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Permanent joint damage
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