Early Signs and Diagnosis of Haemophilia: Key Symptoms and Tests

When a child bleeds excessively from a minor cut, or a newborn’s umbilical cord stump won’t stop oozing, most parents assume the worst but rarely think of haemophilia. Yet this is often exactly how this inherited bleeding disorder first announces itself. Haemophilia is a condition in which the blood lacks sufficient clotting factors – proteins essential for stopping bleeding – making even routine injuries potentially serious. According to the U.S. Centers for Disease Control and Prevention (CDC), early and accurate diagnosis is crucial because it directly shapes the treatment plan and the long-term health of the affected child. Understanding the early warning signs and the diagnostic tools used to confirm haemophilia is therefore essential knowledge – not just for medical professionals, but for families, educators, and caregivers too.

Recognizing the early signs of haemophilia 🔗

The early signs of haemophilia are not always dramatic. They can be subtle enough to be dismissed as ordinary childhood mishaps. What distinguishes haemophilia-related bleeding is its disproportionate severity relative to the injury – bleeding that lasts too long, recurs without cause, or appears in unexpected places.

Signs in newborns and infants 🔗

Haemophilia symptoms may appear within weeks after a child’s birth. One of the earliest indicators is a prolonged bleed from the umbilical cord stump, which normally heals within two weeks. In baby boys, extended bleeding after circumcision is another significant early warning sign. Many babies with severe haemophilia are first diagnosed when prolonged bleeding occurs after circumcision.

Infants may also show unusual bleeding from the mouth – particularly when cutting teeth or biting their tongue. A published case series found that clinical onset of haemophilia A in neonates typically occurred within the first week of life in approximately 8 out of 10 cases, underscoring how early symptoms can appear and how rapidly they can escalate. In some severe cases, internal bleeding in the brain (intracranial haemorrhage) can occur, making prompt recognition life-saving.

Signs in toddlers and older children 🔗

As children grow more active, different bleeding patterns emerge. Toddlers and older children commonly experience bleeding into muscles and joints, with symptoms including pain, swelling, loss of range of motion, and an inability to move or use the affected arm or leg – often without any visible bruising on the skin.

Haemarthrosis – bleeding into the joints – is the most common musculoskeletal complication of haemophilia, affecting 75 to 90% of patients with severe disease. The ankles, knees, and elbows are the most frequently affected joints. In infants and toddlers, this may present as irritability and a reluctance to move a particular limb, while older children may describe a distinctive tingling or bubbling sensation in the joint before pain and swelling develop.

Other visible warning signs in this age group include:

• Easy and excessive bruising – large bruises or lumps under the skin (hematomas) from minor bumps, which may appear disproportionate to any trauma.
• Frequent nosebleeds – nosebleeds that are difficult to stop and recur without obvious cause.
• Bleeding gums – a tendency to bleed easily from the gums while brushing teeth or following dental work is a well-recognised sign of haemophilia.
• Blood in urine or stool – blood found in urine or stool may also signal haemophilia.
• Prolonged bleeding after vaccinations or minor cuts – bleeding that restarts after initially stopping, or continues well beyond the expected time.

It is worth noting that a child with mild haemophilia may show no signs at all unless an accident, dental procedure, or surgery causes excessive bleeding. This is why family history plays such a critical role in raising clinical suspicion early.

The role of family history and prenatal awareness 🔗

Haemophilia follows an X-linked inheritance pattern, which means it predominantly affects males while females are typically carriers. If haemophilia runs in the family, doctors can conduct prenatal testing using amniocentesis or chorionic villus sampling; more commonly, when the baby is born, they test a sample of blood from the umbilical cord. For families with a known history of haemophilia, this early awareness allows for immediate monitoring and preparation, significantly improving outcomes for the newborn.

The diagnostic toolkit 🔗

Diagnosing haemophilia is not a single-step process. It involves a layered approach – beginning with clinical observation and family history, followed by targeted laboratory tests, and in some cases, imaging studies to detect internal bleeding. According to the CDC, haemophilia is diagnosed using screening tests followed by more specific clotting factor tests: screening tests show whether blood is clotting properly, while clotting factor tests indicate the type of haemophilia and its severity.

Physical examination and history 🔗

The first step in diagnosis is a thorough physical examination combined with a detailed review of the child’s personal and family medical history. During a physical exam, the doctor looks for raised bruises or swelling around the joints and assesses how much movement the child has in those joints, while also asking parents about symptoms such as nosebleeds, unusual bruises, or blood in the urine or stool. Any family history of unexplained bleeding – particularly among male relatives such as maternal uncles, grandfathers, or cousins – is a significant diagnostic indicator.

Prenatal diagnosis for at-risk families 🔗

For families with a confirmed history of haemophilia, diagnosis can begin before birth. The two most commonly used prenatal testing methods are amniocentesis – which involves removing a small amount of amniotic fluid, usually during the second trimester – and chorionic villus sampling, which collects a small tissue sample from the placenta after the 11th week of pregnancy. Both procedures examine fetal cells for the genetic mutations responsible for haemophilia. Genetic counselling before pregnancy is considered ideal, as it helps couples make informed decisions before conception.

Coagulation screening: aPTT and PT 🔗

Once haemophilia is suspected – whether in a newborn or an older child – laboratory blood tests are the cornerstone of diagnosis. The activated partial thromboplastin time (aPTT) is one of the most important initial screening tests. It measures how long it takes for blood to clot, and the aPTT is prolonged in individuals with haemophilia A or B, reflecting the deficiency in clotting factors VIII or IX. In contrast, the prothrombin time (PT) – which measures a different part of the clotting pathway – is typically normal in haemophilia, helping to distinguish it from other bleeding disorders.

A complete blood count (CBC) is also routinely ordered. While the CBC may be normal in haemophilia, if a child has unusually heavy or prolonged bleeding, the haemoglobin and red blood cell count can be low, indicating significant blood loss that requires attention.

Clotting factor assays 🔗

To confirm the diagnosis and determine its type and severity, doctors measure the specific clotting factor levels in the blood. Clotting factor tests, also called factor assays, determine the clotting activity of Factor VIII and Factor IX in the blood – these are required to diagnose a bleeding disorder, identify its type, and assess its severity, all of which are essential for creating the best treatment plan.

Haemophilia severity is classified based on factor activity levels: severe haemophilia involves factor activity below 1% of normal, moderate haemophilia ranges from 1-5%, and mild haemophilia falls between 5-40%. In severe haemophilia, clotting factor activity is lower than 1%, and determining the specific type and severity is important for creating an individualised treatment plan.

Genetic testing 🔗

Genetic testing goes one step further by identifying the exact mutation in the F8 or F9 gene responsible for the condition. Genetic testing can confirm a haemophilia A or B diagnosis by identifying mutations in the genes responsible for producing clotting Factors VIII or IX, and it can also determine if a person is a carrier of a haemophilia mutation – meaning they don’t have haemophilia themselves but can pass it to their children.

This has significant implications for carrier detection in female relatives and for family planning. According to the NIH’s GeneReviews, the optimal time for determining genetic risk and discussing prenatal testing options is ideally before pregnancy, and establishing the genetic status of a female at risk as early as possible in a pregnancy is strongly recommended.

Imaging tests: MRI, ultrasonography, and CT scans 🔗

Blood tests confirm the diagnosis, but imaging studies are essential when internal bleeding is suspected – particularly in the joints, muscles, or brain. Each modality has a distinct role.

MRI (Magnetic Resonance Imaging) is the most sensitive tool for detecting early joint damage. MRI can detect early synovial and cartilaginous changes that may not be visible on conventional X-rays and can differentiate between acute and chronic bleeding in soft tissues. It is particularly valuable for identifying haemophilic arthropathy in its earliest stages, before significant structural damage has occurred.

Ultrasonography is a practical, radiation-free bedside tool. Ultrasound is useful in distinguishing muscle bleeds near joints from acute haemarthrosis, and deep muscle bleeds – such as those in the psoas muscle – often require imaging confirmation via CT or ultrasound. Ultrasonography is especially valued for monitoring soft-tissue haematomas over time and for point-of-care joint assessments.

CT (Computed Tomography) scans offer a complementary strength. CT is useful in evaluating subtle bony erosion and intra- and extraosseous pseudotumours – encapsulated blood collections that can develop in patients with repeated or untreated bleeds. CT is also the preferred modality when intracranial haemorrhage is clinically suspected, particularly in neonates or following head trauma.

Why early diagnosis matters 🔗

Early diagnosis and prophylactic treatment from birth helps reduce the risk of bleeding into the brain, which can be life-threatening, and may also prevent bleeds that cause disability and long-term damage to joints and muscles. The diagnostic journey – from spotting early symptoms to confirming the diagnosis through laboratory and imaging tests – is not just a clinical formality. It is the foundation upon which a child’s entire management plan is built. Most children receive a haemophilia diagnosis before age 3, but some people with mild forms may not know they have the disease until adolescence or adulthood, which is why sustained awareness among parents, teachers, and healthcare workers remains critical.

What do you think? If a child in your care regularly shows unexplained bruising or bleeds longer than usual after minor cuts, how confident are you in recognising these as potential warning signs rather than ordinary childhood injuries? And given that around one-third of haemophilia cases arise from spontaneous gene mutations with no family history, how can schools and community health systems better support early identification of this condition?

References

1. https://www.cdc.gov/hemophilia/testing/index.html
2. https://www.childrens.com/specialties-services/conditions/hemophilia
3. https://bns.institute/paediatric-nursing/hemophilia-in-children-diagnosis-management/
4. https://www.mdpi.com/2227-9067/11/11/1352
5. https://www.ucsfbenioffchildrens.org/conditions/hemophilia
6. https://www.stanfordchildrens.org/en/topic/default?id=hemophilia-90-P02313
7. https://www.rush.edu/kids/conditions/hemophilia-children
8. https://kidshealth.org/en/parents/hemophilia.html
9. https://nyulangone.org/conditions/hemophilia-in-children/diagnosis
10. https://hemophilianewstoday.com/diagnosis-of-hemophilia/
11. https://emedicine.medscape.com/article/779322-workup
12. https://www.rarediseaseadvisor.com/disease-info-pages/hemophilia-testing/
13. https://www.cincinnatichildrens.org/health/h/hemophilia
14. https://www.healthline.com/health/hemophilia-labs
15. https://www.ncbi.nlm.nih.gov/books/NBK1404/
16. https://ajronline.org/doi/10.2214/ajr.158.1.1727336
17. https://www.diagnosticimaging.com/view/imaging-brings-precision-hemophilia-diagnosis
18. https://www.roche.com/stories/haemophilia-in-infants