Symptoms of hemophilia A
Fact-checked by Hemophilia A is a rare inherited bleeding disorder and the most common type of hemophilia, accounting for about 80% of cases. It is caused by mutations in the F8 gene that lead to a deficiency in a blood-clotting protein called factor VIII (FVIII). The lack of FVIII impairs normal blood clotting, causing heavy and prolonged bleeding.
Disease severity can be classified as mild, moderate, or severe according to residual FVIII activity, with lower factor activity levels being associated with more frequent bleeding episodes, including spontaneous bleeds in more severe cases.
Recognizing early signs and symptoms of internal and external bleeding allows for timely diagnosis and clinical intervention, which can preserve tissue and joint health.
Early signs of hemophilia A in infants and toddlers
In newborns and infants, signs of a bleeding disorder like hemophilia A may first become apparent during routine medical procedures. Prolonged, continuous bleeding after a newborn heel stick or a standard circumcision is frequently the earliest indicator that a child has low clotting factor levels. As infants grow and receive routine pediatric care, parents might also observe excessive or prolonged bleeding following routine vaccinations.
When children reach the toddler stage and begin exploring their environment, their physical activity levels rise. This developmental shift typically triggers the appearance of more noticeable symptoms. Toddlers learning to crawl or walk are prone to frequent bumps and falls, which can result in bruising. While minor surface bruises are common, children with hemophilia A often develop unusually large, deep, or raised bruises (hematomas) from minor impacts.
Because infants and toddlers cannot verbally describe their discomfort, caregivers must rely on behavioral changes. A baby experiencing internal discomfort or early-stage bleeding may become irritable or cranky for no apparent reason. If an infant consistently refuses to crawl, bear weight on a leg, or reach for objects with a specific arm, caregivers may need to consider medical evaluation.
Identifying internal joint bleeding
Internal bleeding into joint spaces, known as hemarthrosis, is one of the most characteristic and debilitating manifestations of severe or moderate hemophilia A. This type of bleeding most commonly affects weight-bearing and high-use joints, such as the knees, ankles, and elbows. Knowing how to spot joint bleed signs early can prevent chronic joint disease, cartilage degeneration, and permanent disability.
The progression of a joint bleed usually follows a distinct clinical pattern, which can help hemophilia A patients or caregivers to recognize its signs:
- “Aura” or tingling: Older children and adults may describe a sensation of warmth, bubbling, or tingling inside the joint before any visible swelling or pain occurs.
- Tightness and stiffness: As blood begins to pool within the joint cavity, the structural space decreases, creating a feeling of tightness or mild stiffness. At this point, a person may have difficulty moving or may be reluctant to use the affected joint.
- Heat and swelling: As the volume of trapped blood increases, the joint swells and feels hotter to the touch than the surrounding skin.
- Severe pain and loss of joint movement: Untreated bleeding causes acute, intense pain. Eventually, a person may lose the ability to fully bend, straighten, or bear weight on the affected joint.
Muscle bleeds and soft tissue swelling
Similar to joint bleeds, deep muscle bleeds can happen spontaneously or as a result of an injury. Bleeding into large muscle groups, such as the thighs, calves, or forearms, causes blood to accumulate deep within the soft tissue, creating a hematoma.
Muscle bleeds do not always cause visible bruising. Instead, the primary symptoms include deep, aching pain, visible or palpable soft tissue swelling, and difficulty moving the affected area. The affected muscle may also feel unusually warm, firm, tense, or hard to the touch.
As a muscle bleed progresses, the increased blood volume exerts intense pressure on surrounding nerves and blood vessels. This can cause secondary neurological symptoms, such as numbness, tingling, or a “pins and needles” sensation. If left untreated, this pressure can restrict blood flow to the area, potentially leading to permanent muscle or nerve damage.
Critical emergency symptoms
While some bleeding episodes can be managed at home using prescribed clotting factor replacement therapies, certain symptoms require immediate emergency medical care.
An intracranial hemorrhage, or bleeding inside the brain, is the most serious medical emergency associated with hemophilia A. It can occur spontaneously or after a head injury. Patients and caregivers should seek immediate care if any of the following neurological symptoms are present:
- long-lasting, severe, or worsening headaches
- constant vomiting
- extreme sleepiness, lethargy, or sudden behavioral alterations
- double vision
- slurred speech
- unexplained clumsiness, weakness in the arms or legs, or trouble walking
- convulsions or seizures
Other types of bleeds that require emergency care include:
- bleeding into the throat, neck, or tongue, which can result in soft-tissue swelling that can rapidly compress the airway, causing breathing or swallowing difficulties.
- bleeding in the digestive or urinary tract, which may present as bright red or dark brown blood in the urine, or as stools that are mixed with bright red blood or appear unusually dark.
- bleeding in the eyes, which can cause pain and affect vision.
- bleeding in the spine, which may cause back pain or unusual weakness, numbness, and tingling in the limbs.
Tracking and logging symptoms
Tracking symptoms of hemophilia A is an important part of managing the disease. Maintaining an accurate, chronological record of all bleeding episodes, physical changes, and treatment responses can empower caregivers and provide healthcare teams with the data they need to optimize care plans.
A symptom log should record the following key details for every event:
- date and time
- the location and type of bleed
- symptom severity
- treatment received and response to treatment
Consistently documenting these details can help families identify patterns, such as specific joints where bleeds recur. Sharing this log during routine visits to a treatment center allows medical teams to evaluate the effectiveness of preventive treatments and adjust therapies early, helping to protect long-term health and mobility.
Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
