Pediatric hemophilia: Managing and supporting young patients

Last updated Sep. 1, 2025, by Lindsey Shapiro, PhD
Fact-checked by Joana Carvalho, PhD

Hemophilia, a rare bleeding disorder, affects people of all ages, but how the disease manifests and is treated can be different in childhood and adulthood.

People with hemophilia experience spontaneous or excessive bleeding due to a deficiency in certain blood clotting proteins. In its most common forms, hemophilia is a lifelong disease, with symptoms typically becoming evident in infancy or childhood.

Young children or babies with hemophilia may bruise easily or have excessive bleeding with minor injuries. Over time, the disease can lead to more serious complications if left untreated. That’s why prompt diagnosis and early treatment in pediatric hemophilia is key. With proper management, children with hemophilia can lead active and healthy lives.

What is pediatric hemophilia?

All types of hemophilia can affect children. Congenital hemophilia, including types A, B, and C, is caused by genetic mutations that are present when a baby is born.

The age of symptom onset in hemophilia depends on its severity. In the U.S., even children with mild hemophilia are typically diagnosed when they are young, with many children being diagnosed by age 2.

The very rare acquired hemophilia, caused by autoimmune reactions that develop after birth, nearly always affects older adults, but a pediatric onset is also possible.

While the fundamental nature of hemophilia doesn’t change with age, it can appear differently over time, with the signs of hemophilia in babies looking different than those in adolescents or adults. The approach to treatment for hemophilia is similar across age groups, but not all treatments that are approved for adults can be used in children.

Causes and genetic inheritance

Each type of congenital hemophilia is caused by mutations in genes that encode different blood clotting proteins:

Hemophilia A is caused by F8 mutations, leading to a lack of factor VIII
Hemophilia B is caused by F9 mutations, leading to a lack of factor IX
Hemophilia C is caused by F11 mutations, leading to a lack of factor XI.

Children typically inherit these disease-causing mutations directly from their biological parents, and the disease runs in families. Because of the specific way that hemophilia A and B, the most common types, are inherited, children with the disease are nearly always male.

Around a third of infants born with hemophilia don’t have a family history of the disease. In these cases, hemophilia arises from spontaneous mutations that occur in the parents’ reproductive cells or in a child’s own cells during early fetal development.

Signs and symptoms of hemophilia in children

The symptoms of hemophilia — spontaneous bleeding or prolonged bleeding in response to trauma or surgery — vary based on disease severity and the achieved level of clotting. People with moderate or mild disease may not have symptoms until later in childhood or adulthood, often when excessive bleeding happens during a surgical or dental procedure.

In severe hemophilia, signs will likely be evident early in infancy. Immediately after birth, newborns may have bleeding inside or around the skull, which is related to birth trauma.

In babies and toddlers, the most common sites of bleeding are the mouth and head. Possible symptoms of hemophilia in toddlers and infants include:

swollen lumps called “goose eggs” from head bumps
prolonged bleeding or bleeding that restarts easily after minor wounds
unusual or excessive bruising, especially as the child becomes more mobile
prolonged bleeding after medical procedures, such as circumcision or vaccination
unexplained fussiness or irritability.

As children get older and become more physically active, bleeding frequency may increase, most often in the joints and muscles, especially the ankles, knees, and elbows. Symptoms could include:

pain, swelling, and movement restrictions due to joint bleeds
heavy menstrual bleeding
nosebleeds with no obvious cause
blood in the urine or stool, if internal bleeding occurs.

Parents should always contact a healthcare provider if they notice any signs that their child is bleeding more than usual or that bleeding is difficult to stop. They should also seek immediate medical attention if their child experiences any type of head trauma due to the risk of bleeding in the brain, which can be life-threatening if not properly addressed early on.

By adulthood, repeated, chronic bleeding episodes can lead to long-term health issues, including chronic pain and joint disease.

Diagnosis and early detection

Reaching a hemophilia diagnosis in children involves blood tests to look at complete blood counts, blood clotting abilities, and levels of clotting factors. Genetic testing for hemophilia involves screening for disease-causing mutations in blood or other fluids.

If there is a family history of hemophilia, parents may opt for prenatal testing during pregnancy to see if their child will have hemophilia. A sample of the fluid or tissue that surrounds and protects a baby in the womb is collected for genetic testing.
Newborn screening for hemophilia is not routinely done for all infants, but should be performed using a small blood sample from the baby or the umbilical cord when there is a family history of hemophilia or an infant shows signs of unusual bleeding. Some clotting factor levels are naturally low at birth, and additional testing may be required later.
Hemophilia blood tests can also be performed at any other time if a child develops symptoms.

Early detection is critical for preventing severe complications. The sooner a child is diagnosed, the sooner a proactive disease management plan can be started to ensure that the child can lead the healthiest and most active life possible.

Treatment options for pediatric hemophilia

The cornerstone of treatment for pediatric hemophilia is prophylactic factor replacement therapy, where a version of the missing clotting factor is routinely infused into the bloodstream to prevent bleeding. Various replacement products are available, most of them approved for use starting in infancy and can be used on-demand to stop bleeding.

There are also other medications that work in different ways to promote blood clotting. These can be especially beneficial for children who develop inhibitors, a type of neutralizing antibody against the clotting factor that makes replacement therapy less effective.

Bypassing agents work to activate the blood clotting cascade without relying on the missing clotting protein.
Nonfactor therapies either mimic the function of a missing clotting factor or inhibit natural mechanisms that regulate clotting in order to rebalance the clotting system.

Gene therapies that work to supply the body with a working version of the disease-causing gene have emerged recently, but none are currently approved for use in children.

Pediatric hemophilia treatments can sometimes be administered at home by parents after proper training from a healthcare provider, allowing families more flexibility and convenience. However, more complex situations may still require treatment in a medical setting.

Specialized hemophilia treatment centers for children have the expertise to guide families on treatment choices and management plans.

Managing pediatric hemophilia in daily life

A proactive approach to a child’s hemophilia care at home is key for promoting their well-being and preventing serious complications. Parents and caregivers can work to make life with hemophilia easier for their children by:

Consistently adhering to a preventive treatment plan and follow-up visits with their child’s hemophilia care team
Promptly managing minor injuries
Helping their child to maintain good dental hygiene
Encouraging participation in low-impact exercise and activities while avoiding high-contact sports that can increase injury risk
Speaking with school administrators about their child’s needs
Monitoring their child’s mental health and helping them build an emotional support system.

Even with the best possible care, unexpected bleeds can happen. It is a good idea to have a detailed emergency plan and for a child with hemophilia to have a medical identification card or bracelet with them at all times.

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