Hemophilia is a genetic and hereditary bleeding disorder that affects the body’s ability to form blood clots. It can cause internal or external bleeding, as well as symptoms such as gum bleeding, nosebleeds, blood in the urine or stool, and bruising throughout the body.
This condition results from a deficiency or reduced activity of clotting factors VIII and IX, which are essential for proper blood clotting. When these factors are missing or not working correctly, bleeding episodes can occur more easily or last longer than normal.
Although hemophilia has no cure, it can be managed. Treatment is provided by a hematologist and involves regular injections of the missing clotting factor to help prevent bleeding episodes, as well as urgent treatment when bleeding occurs.
Main symptoms
The main symptoms of hemophilia include:
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Bruising after a minor injury;
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Spontaneous bleeding without an obvious reason, such as gum bleeding or nosebleeds;
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Swelling and pain in joints like the knees, elbows, ankles, shoulders, wrists, and hips;
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Bleeding when the first teeth emerge;
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Bleeding that is difficult to stop after minor cuts or surgical procedures;
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Wounds that take a long time to heal;
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Excessive or prolonged menstrual bleeding.
Bleeding in hemophilia can be mild, moderate, or severe. Internal bleeding may affect organs such as the brain, leading to intracranial hemorrhage, or the gastrointestinal tract, causing symptoms like abdominal pain, blood in the stool, or vomiting up blood.
Symptoms of hemophilia may appear during the first years of life, but they can also begin during puberty, adolescence, or adulthood.
Confirming a diagnosis
The diagnosis of hemophilia is made by a hematologist based on an evaluation of symptoms, personal and family medical history, a physical exam, and the results of lab tests.
Tests used to diagnose hemophilia include a complete blood count (CBC) and a coagulation panel, which measures prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT).
Factor VIII and factor IX activity tests are also necessary to confirm the diagnosis, as activity of one of these factors is typically reduced by about 40%.
In some cases, a genetic test may be recommended to confirm hemophilia and assess the severity of the condition.
Possible causes
Hemophilia is caused by a deficiency or reduced activity of clotting factors VIII or IX, essential proteins that allow blood to clot properly.
This disorder is an X-linked recessive genetic condition, meaning it is inherited through the mother’s genes. Women carry the affected gene but primarily pass the condition to their sons.
Different types
The main types of hemophilia are:
1. Hemophilia A
Hemophilia A is the most common type and occurs due to a deficiency or dysfunction of clotting factor VIII.
2. Hemophilia B
Hemophilia B, also known as Christmas disease, is caused by a deficiency or reduced activity of clotting factor IX.
3. Hemophilia C
Hemophilia C is a rare form of the condition and is caused by a deficiency of clotting factor XI.
4. Congenital hemophilia
Congenital hemophilia occurs when a baby is born with reduced activity of clotting factor VIII or IX.
5. Acquired hemophilia
Acquired hemophilia develops when the body begins producing antibodies that attack and destroy clotting factor VIII or IX, even though the person was not born with the disorder.
Treatment options
Treatment for hemophilia is managed by a hematologist and is aimed at preventing frequent bleeding episodes and reducing complications.
The main treatment options include:
1. Clotting factor replacement therapy
Replacement therapy with factor VIII or IX is given intravenously using clotting factor concentrates. The dose is calculated by the doctor based on body weight, severity of the condition, and the person's baseline factor levels.
This therapy may be given prophylactically to prevent joint bleeding and reduce the frequency of muscle or brain hemorrhages. It may also be administered to treat acute bleeding episodes, often requiring hospital care.
2. Medications
Medications used in hemophilia treatment include desmopressin (DDAVP), tranexamic acid, and epsilon aminocaproic acid, which help promote blood clotting.
Monoclonal antibodies such as emicizumab or concizumab may be recommended for acquired hemophilia. All medications should be used only under a hematologist’s guidance based on the type and severity of hemophilia.
3. Cryoprecipitate
Cryoprecipitate is a transfusion product that contains concentrated clotting factor VIII and may be used in some treatment plans.
4. Physical therapy
Physical therapy plays an important role in hemophilia management. It supports joint function, reduces the risk of complications like hemolytic synovitis, and strengthens muscles, which may decrease the need for clotting factor replacement and improve quality of life.
Exercises should be guided by a physical therapist based on the affected joints.
Care instructions
Some important guidelines for hemophilia treatment include:
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Engaging in physical activity to strengthen muscles and joints, while avoiding high-impact or contact sports;
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Monitoring for new symptoms, especially in children, and checking whether they improve with treatment;
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Keeping medication accessible at all times, especially during travel;
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Wearing medical identification, such as a bracelet, that indicates the condition;
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Informing healthcare professionals about hemophilia before vaccinations, dental procedures, or medical treatments.
People with hemophilia should avoid medications that increase bleeding risk, such as aspirin, NSAIDs, and anticoagulants.
Common questions
Some frequently asked questions about hemophilia include:
1. Is hemophilia more common in men?
The clotting factor deficiencies associated with hemophilia are linked to the X chromosome. Because men have only one X chromosome, inheriting an affected X from their mother is enough for them to develop the condition. Women must inherit two affected X chromosomes to develop hemophilia, which is why the disorder is more common in men.
A woman who inherits one affected X chromosome is considered a carrier. She typically does not develop symptoms but has a 25% chance of having a son with hemophilia.
2. Is hemophilia always hereditary?
Around 30% of hemophilia cases occur with no family history and result from a spontaneous genetic mutation. In these cases, the person is considered to have acquired hemophilia but can still pass the condition on to their children.
3. Is hemophilia contagious?
No, hemophilia is not a contagious condition. It cannot be spread through blood contact or blood transfusions, and it does not interfere with the bone marrow’s ability to produce healthy blood cells.
4. Can a person with hemophilia live a normal life?
With proper preventive treatment using clotting factor replacement, a person with hemophilia can live a normal life and even participate in sports. Treatment can also be given whenever a bleeding episode occurs.
Before any surgical or dental procedure, including extractions and fillings, a preventive dose of clotting factor must be administered.
5. Can someone with hemophilia take ibuprofen?
People with hemophilia should not take ibuprofen or medications that contain aspirin. These drugs interfere with blood clotting and increase the risk of bleeding, even after clotting factor replacement.
6. Can a person with hemophilia get tattoos or have surgery?
People with hemophilia can get tattoos or undergo surgery, but they must inform the professional beforehand and receive clotting factor treatment prior to the procedure to reduce the risk of bleeding.
Some people with hemophilia report faster healing and less pain after tattoos when clotting factor is administered beforehand. The tattoo should be done in a licensed, clean facility using sterile equipment to avoid complications.
7. How long can a person with hemophilia live?
There is no fixed life expectancy for people with hemophilia, as the severity of the condition varies from person to person and may be affected by other health issues. However, with proper medical treatment, life expectancy can be significantly improved.