7 Key Hemophilia Symptoms You Should Never Ignore

Hemophilia is a rare inherited bleeding disorder that affects the blood’s ability to clot properly. People with hemophilia lack sufficient clotting factors, which are proteins in the blood that help stop bleeding. This condition primarily affects males and can range from mild to severe, depending on the level of clotting factor deficiency. Recognizing the symptoms of hemophilia is crucial for early diagnosis and proper management of the condition. Without adequate treatment, hemophilia can lead to serious complications including joint damage, internal bleeding, and life-threatening hemorrhages.

The symptoms of hemophilia can vary significantly depending on the severity of the condition. People with mild hemophilia may only experience bleeding after surgery, dental procedures, or significant injuries, while those with severe hemophilia may experience spontaneous bleeding episodes without any apparent cause. Understanding these symptoms can help individuals and families seek appropriate medical care and prevent potentially dangerous complications.

1. Unexplained and Excessive Bruising

One of the most noticeable and common symptoms of hemophilia is the tendency to bruise easily and excessively. People with hemophilia develop bruises from minor bumps or injuries that wouldn’t typically cause bruising in people with normal clotting function. These bruises, medically known as ecchymoses, often appear larger than expected and may develop in unusual locations.

In infants and young children with hemophilia, excessive bruising often becomes apparent when they begin to crawl or walk. Parents may notice large bruises appearing on the child’s arms, legs, forehead, or other parts of the body after minimal contact or falls. These bruises may be:

• Larger than a quarter in size
• Deep purple or blue in color
• Slow to fade or heal
• Accompanied by lumps under the skin (hematomas)
• Appearing without any remembered injury

The bruising occurs because when small blood vessels under the skin break, the lack of adequate clotting factors allows blood to continue leaking into the surrounding tissue for a longer period than normal. This results in more extensive discoloration and swelling. While bruising itself is usually not dangerous, it serves as an important indicator that the blood is not clotting properly.

2. Prolonged Bleeding from Cuts and Injuries

People with hemophilia experience bleeding that continues for an unusually long time after cuts, scrapes, or other injuries. While the bleeding may not be faster or more intense than in people without hemophilia, it lasts significantly longer because the blood cannot form stable clots effectively.

This prolonged bleeding can occur from:

• Minor cuts and abrasions
• Dental procedures or tooth loss
• Surgical procedures
• Blood draws or injections
• Circumcision in newborn boys

In cases of mild hemophilia, bleeding problems may only become apparent during surgeries, dental work, or significant trauma. However, individuals with moderate to severe hemophilia may experience extended bleeding even from minor injuries. For example, a small cut that would stop bleeding within minutes for most people might continue to ooze blood for hours or even days in someone with hemophilia.

It’s important to note that the bleeding may stop temporarily but then start again hours or even days later. This delayed bleeding occurs because the initial, weak clot that forms breaks down easily without sufficient clotting factors to reinforce it.

3. Joint Pain and Swelling (Hemarthrosis)

Bleeding into the joints, known as hemarthrosis, is one of the most serious and debilitating symptoms of hemophilia. This internal bleeding occurs when blood vessels within the joint space rupture and blood accumulates in the joint cavity. The knees, elbows, and ankles are most commonly affected, though it can occur in any joint.

Joint bleeds can happen spontaneously in severe hemophilia or may be triggered by physical activity or minor trauma. The symptoms of a joint bleed include:

• A tingling, bubbling, or warm sensation in the joint (often the earliest sign)
• Pain that progressively worsens
• Swelling and tenderness
• Stiffness and reduced range of motion
• The joint feeling hot to the touch
• Visible swelling and changes in the joint’s appearance

Repeated bleeding into the same joint can lead to chronic joint disease called hemophilic arthropathy. Over time, the accumulated blood damages the cartilage and bone within the joint, causing chronic pain, permanent deformity, and loss of joint function. This is why early recognition and treatment of joint bleeds is critical for people with hemophilia.

Children with hemophilia may become reluctant to use the affected limb, start limping, or refuse to walk when experiencing a joint bleed. Adults may notice a characteristic pattern of joint pain that they recognize from previous bleeding episodes.

4. Excessive Bleeding from the Mouth and Gums

The mouth and gums are particularly prone to bleeding in people with hemophilia due to the rich blood supply in this area and the frequent minor trauma that occurs during eating, brushing teeth, or dental procedures. Bleeding from the mouth can be particularly concerning because it’s difficult to control and may pose a choking hazard.

Common scenarios that trigger mouth bleeding in hemophilia include:

• Losing baby teeth or having permanent teeth extracted
• Brushing teeth too vigorously
• Biting the tongue, cheek, or lips
• Dental cleanings or other dental procedures
• Eating hard or crunchy foods

The bleeding may be immediate or delayed, and can continue for hours or days. Blood may be visible in the saliva, or the person may swallow blood, which can cause nausea or vomiting. Persistent bleeding in the mouth can also lead to the formation of blood clots that obstruct the airway, creating a medical emergency.

Infants with hemophilia may experience prolonged bleeding when they’re teething or after biting their tongue or lips during feeding. This can be one of the first signs that leads to diagnosis. Maintaining excellent oral hygiene and informing dentists about the hemophilia diagnosis before any dental work is essential for preventing serious bleeding complications.

5. Nosebleeds (Epistaxis)

While nosebleeds are common in children and usually not a cause for concern, people with hemophilia experience nosebleeds that are more frequent, more severe, and last longer than typical nosebleeds. These episodes can be spontaneous or triggered by minor trauma such as nose-picking, rubbing, or dry air.

Characteristics of hemophilia-related nosebleeds include:

• Lasting more than 10 minutes despite applying pressure
• Recurring frequently without apparent cause
• Producing significant blood loss
• Starting again after initially stopping
• Difficult to control with standard first-aid measures

The nose contains many small blood vessels close to the surface, making it vulnerable to bleeding. In people with hemophilia, even minor irritation or trauma to the nasal lining can cause bleeding that’s difficult to stop. The bleeding typically comes from one nostril initially but may affect both nostrils.

Severe or prolonged nosebleeds can lead to significant blood loss, especially in children with severe hemophilia. In some cases, blood may be swallowed and travel to the stomach, causing nausea, vomiting, or dark stools. Recurrent nosebleeds may also cause anxiety and affect quality of life.

6. Blood in Urine or Stool

Internal bleeding that manifests as blood in the urine (hematuria) or stool (hematochezia or melena) is a serious symptom of hemophilia that requires immediate medical attention. This indicates bleeding within the urinary tract, kidneys, gastrointestinal system, or other internal organs.

Blood in the urine may appear as:

• Pink, red, or cola-colored urine
• Visible blood clots in the urine
• Pain or burning during urination (though bleeding can occur without pain)
• Frequent urge to urinate

Blood in the stool may present as:

• Bright red blood on toilet paper or in the toilet bowl
• Dark, tarry stools (indicating bleeding higher in the digestive tract)
• Maroon-colored stools
• Abdominal pain or cramping

Bleeding in the urinary tract can occur spontaneously in people with severe hemophilia or may be triggered by infection, kidney stones, or trauma. Gastrointestinal bleeding might result from ulcers, hemorrhoids, or other digestive conditions, but in people with hemophilia, even minor issues can cause significant bleeding.

These symptoms are particularly concerning because they indicate internal bleeding that cannot be directly observed or easily controlled. Persistent bleeding in the kidneys can lead to kidney damage, while gastrointestinal bleeding can result in significant blood loss and anemia.

7. Intracranial Bleeding and Severe Headaches

Intracranial bleeding, or bleeding within the skull, is one of the most serious and potentially life-threatening complications of hemophilia. While less common than other symptoms, it’s critically important to recognize because it constitutes a medical emergency requiring immediate treatment.

Intracranial bleeding can occur after a head injury, but in severe hemophilia, it may happen spontaneously without any trauma. Warning signs include:

• Sudden, severe headache unlike any experienced before
• Prolonged headache that doesn’t respond to typical pain relievers
• Headache accompanied by nausea and vomiting
• Confusion, drowsiness, or changes in behavior
• Vision problems or double vision
• Weakness or numbness in the face, arms, or legs
• Difficulty speaking or understanding speech
• Loss of coordination or balance
• Seizures
• Loss of consciousness

In infants, signs of intracranial bleeding may include:

• Excessive sleepiness or difficulty waking
• Persistent vomiting
• Unusual irritability or crying
• Bulging soft spot (fontanelle) on the head
• Seizures

Intracranial bleeding is most dangerous in young children with severe hemophilia, particularly those who are learning to walk and experiencing frequent falls. Even minor head bumps that wouldn’t concern most parents can potentially lead to serious bleeding inside the skull in a child with hemophilia.

Any head injury in a person with hemophilia, regardless of how minor it appears, should be evaluated by a healthcare provider. Similarly, any unusual or severe headache, especially when accompanied by other neurological symptoms, requires emergency medical attention.

Main Causes of Hemophilia

Understanding what causes hemophilia is essential for recognizing who may be at risk and why certain individuals develop this condition. Hemophilia is primarily a genetic disorder with specific inheritance patterns.

Genetic Inheritance

Hemophilia is an inherited disorder caused by mutations in genes responsible for producing clotting factors. The condition is passed from parents to children through the X chromosome, making it an X-linked recessive disorder. There are two main types:

• Hemophilia A: Caused by a deficiency or absence of clotting factor VIII (8). This is the most common type, accounting for about 80% of all hemophilia cases.
• Hemophilia B: Caused by a deficiency or absence of clotting factor IX (9). This accounts for approximately 20% of cases and is also called Christmas disease.

The genetic mutations occur on the X chromosome. Since males have one X and one Y chromosome (XY), they only need one mutated X chromosome to have hemophilia. Females have two X chromosomes (XX), so they would need mutations on both X chromosomes to have hemophilia, which is extremely rare. Females with one mutated X chromosome are typically carriers who usually don’t have symptoms but can pass the condition to their children.

Inheritance Patterns

The way hemophilia is inherited follows predictable patterns:

• If a father has hemophilia and the mother is not a carrier, all daughters will be carriers and all sons will not have hemophilia
• If the mother is a carrier and the father doesn’t have hemophilia, each son has a 50% chance of having hemophilia and each daughter has a 50% chance of being a carrier
• If the mother is a carrier and the father has hemophilia, each son has a 50% chance of having hemophilia, each daughter has a 50% chance of having hemophilia and a 50% chance of being a carrier

Spontaneous Mutations

In approximately 30% of hemophilia cases, the condition occurs due to spontaneous genetic mutations with no family history of the disorder. These spontaneous mutations can occur during the formation of reproductive cells or in early fetal development. Once the mutation occurs, it can then be passed to future generations following the typical inheritance patterns.

Acquired Hemophilia

Although rare, hemophilia can also be acquired later in life rather than inherited. Acquired hemophilia occurs when the body’s immune system mistakenly produces antibodies that attack clotting factors, particularly factor VIII. This can happen due to:

• Autoimmune conditions
• Pregnancy
• Cancer
• Certain medications
• Unknown causes (idiopathic)

Acquired hemophilia affects men and women equally and typically occurs in older adults, unlike inherited hemophilia which primarily affects males from birth.

Prevention Strategies

While hemophilia itself cannot be prevented because it’s a genetic condition, individuals and families can take important steps to prevent bleeding episodes, complications, and manage the condition effectively.

Genetic Counseling and Testing

Families with a history of hemophilia should consider genetic counseling before having children. Genetic counselors can:

• Assess the risk of passing hemophilia to offspring
• Explain inheritance patterns and testing options
• Provide information about prenatal testing and family planning options
• Offer emotional support and resources

Carrier testing can identify women who carry the hemophilia gene, allowing them to make informed decisions about family planning. Prenatal testing can diagnose hemophilia before birth, enabling families to prepare for appropriate care immediately after delivery.

Preventing Bleeding Episodes

For individuals already diagnosed with hemophilia, preventing bleeding episodes is crucial for maintaining quality of life and preventing long-term complications:

• Regular medical care: Maintain consistent relationships with a hemophilia treatment center and hematology specialists who can provide specialized care and monitoring
• Prophylactic treatment: Some individuals benefit from preventive treatment with clotting factor concentrates, which should be discussed with healthcare providers
• Physical activity modifications: Engage in safe physical activities that strengthen muscles and protect joints while avoiding high-contact sports like football, hockey, or wrestling. Swimming, walking, cycling, and golf are generally safer options
• Home safety: Modify the home environment to reduce injury risks, especially for young children. Use corner guards, secure rugs, and remove tripping hazards
• Proper dental hygiene: Maintain excellent oral health to avoid dental procedures that might cause bleeding. Use soft toothbrushes and gentle brushing techniques
• Medication awareness: Avoid medications that affect blood clotting, such as aspirin, ibuprofen, and other nonsteroidal anti-inflammatory drugs (NSAIDs), unless specifically approved by a healthcare provider

Preventing Joint Damage

Since joint bleeding is a major cause of disability in hemophilia, taking steps to protect joints is essential:

• Maintain a healthy weight to reduce stress on joints
• Strengthen muscles around joints through appropriate exercises recommended by physical therapists
• Recognize early signs of joint bleeds and seek prompt treatment
• Use protective equipment during physical activities
• Avoid repetitive movements that stress particular joints

Education and Awareness

Educating the individual with hemophilia, family members, teachers, coaches, and caregivers about the condition is vital for prevention:

• Learn to recognize early signs of bleeding
• Understand when to seek medical attention
• Know how to respond to bleeding episodes
• Ensure the child’s school and activity leaders are informed about the condition and emergency procedures
• Wear medical identification jewelry indicating the hemophilia diagnosis

Regular Monitoring

Consistent medical monitoring helps prevent complications:

• Regular check-ups to assess joint health and overall condition
• Periodic testing for inhibitors (antibodies against clotting factors)
• Screening for blood-borne infections if receiving blood products
• Monitoring for signs of liver or kidney problems
• Regular dental examinations

Frequently Asked Questions

Can women have hemophilia or are they only carriers?

While rare, women can have hemophilia if they inherit the mutated gene from both parents or have a condition called Turner syndrome (having only one X chromosome). More commonly, women are carriers with one mutated X chromosome. Some carriers experience mild bleeding symptoms because their bodies don’t produce normal levels of clotting factors. Additionally, women can develop acquired hemophilia, an autoimmune condition unrelated to genetics.

At what age do hemophilia symptoms typically appear?

The age when symptoms appear depends on the severity of hemophilia. Severe hemophilia is often diagnosed within the first year of life, sometimes immediately after birth if excessive bleeding occurs during circumcision or delivery. Moderate hemophilia may be diagnosed during early childhood when the child experiences prolonged bleeding from injuries. Mild hemophilia might not be diagnosed until later in childhood, adolescence, or even adulthood when excessive bleeding occurs after surgery, dental procedures, or significant trauma.

Is every bleeding episode in hemophilia a medical emergency?

Not all bleeding episodes require emergency care, but any bleeding in a person with hemophilia should be taken seriously. Minor cuts and scrapes can often be managed at home with appropriate first aid and, if prescribed, clotting factor treatment. However, certain types of bleeding require immediate medical attention, including head injuries, bleeding in the neck or throat, severe abdominal pain, blood in urine or stool, severe joint bleeds, or any bleeding that doesn’t stop with standard measures. When in doubt, it’s always better to seek medical evaluation.

Can hemophilia symptoms change over time?

The underlying severity of hemophilia (determined by clotting factor levels) remains constant throughout life. However, the frequency and severity of bleeding episodes can vary. Infants and toddlers may experience more frequent bleeding as they learn to move and explore. Proper management and prophylactic treatment can reduce bleeding frequency. Some individuals develop inhibitors (antibodies against clotting factors), which can make bleeding harder to control. Joint damage from repeated bleeds can also accumulate over time, leading to chronic pain and mobility issues even without active bleeding.

Do all people with hemophilia have the same symptoms?

No, hemophilia symptoms vary significantly based on the severity of the condition. People with severe hemophilia (less than 1% of normal clotting factor) experience frequent spontaneous bleeding, particularly into joints and muscles. Those with moderate hemophilia (1-5% of normal factor) have occasional spontaneous bleeding and prolonged bleeding from injuries. Individuals with mild hemophilia (5-40% of normal factor) rarely have spontaneous bleeding but experience excessive bleeding from surgery, dental work, or significant trauma. The type of hemophilia (A or B) doesn’t typically affect symptoms, though individual experiences vary.

How can I tell the difference between normal bruising and hemophilia-related bruising?

Hemophilia-related bruising tends to be more extensive, appearing larger and deeper than expected from the injury. These bruises often occur with minimal or no remembered trauma, may have raised lumps (hematomas) beneath the skin, take longer to heal, and appear in unusual locations. In children, some bruising from play and falls is normal, but excessive bruising, especially in infants who aren’t yet mobile, warrants medical evaluation. If you’re concerned about unusual bruising patterns in yourself or your child, consult a healthcare provider for proper assessment.

Should someone with hemophilia avoid all physical activity?

No, physical activity is actually beneficial for people with hemophilia as it strengthens muscles that protect joints. However, the type of activity matters. Low-impact activities like swimming, walking, cycling, table tennis, and golf are generally safe and encouraged. High-contact sports like football, rugby, hockey, and wrestling carry higher injury risks and are typically not recommended. Each person should work with their healthcare team and physical therapists to develop an appropriate exercise plan that maintains fitness while minimizing injury risk. Wearing protective equipment and being prepared to manage bleeding if it occurs allows many individuals with hemophilia to lead active lives.

Can stress or diet affect hemophilia symptoms?

Stress and diet don’t directly cause bleeding in hemophilia since the condition results from missing or deficient clotting factors. However, maintaining overall health through good nutrition supports general wellbeing and healing. A balanced diet rich in vitamins and minerals, particularly vitamin K, calcium, and vitamin D, supports bone and joint health. Maintaining a healthy weight reduces stress on joints. While stress doesn’t cause bleeding, it may affect pain perception and coping abilities. Some individuals notice that certain activities or circumstances seem to trigger bleeding, but this is typically due to physical factors rather than stress itself.

References:

• National Hemophilia Foundation
• Centers for Disease Control and Prevention – Hemophilia Facts
• Mayo Clinic – Hemophilia
• National Heart, Lung, and Blood Institute – Hemophilia
• World Federation of Hemophilia
• NHS – Haemophilia