Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options

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Hemophilia is a genetic bleeding condition which prevents blood from clotting normally. The disorder is the most prevalent and critical congenital coagulation factor insufficiency (Bertamino et al., 2017). Hemophilia affects an estimated one infant per 10,000 births across any race or ethnicity (Bertamino et al., 2017). The deficiency of the clotting factor implies that the affected children suffer from excessive and uncontrollable bleeding. There are three main types of hemophilia, including hemophilia A (classic hemophilia), hemophilia B, also known as Christmas disease, and hemophilia C. The former is caused by the complete lack of the blood clotting factor VIII. The latter is attributed to the deficiency of the clotting component IX.

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Hemophilia C, also referred to by pediatrics as the lack of clotting factor XI, is rarer than types A and B. Additionally, people affected by the Type C hemophilia sustain reduced bleeding levels compared to those with Type A and B. In children, this disorder is inherited from parents, with male infants being the most affected since the condition is X-linked recessive (Garagiola et al., 2018).

Description of Pediatric Hemophilia

Blood clotting is a complex process, which involves 13 coagulants. When a blood vessel is injured, platelets are activated to form a plug on the ruptured area to prevent the excessive loss of blood. The bruise triggers the release of chemical components which initiate the coagulation cascade, eventually forming a mesh made of fibrin over the wounded area, effectively stopping the bleeding. The playful habits of infants expose them to injuries and the subsequent excessive bleeding in hemophilic children. However, internal bleeding occurring in the gastrointestinal tract, the brain, and other internal organs can go unnoticed, causing the patient to experience a hypovolemic shock (Piras, 2017). The clotting factors are either missing or insufficient in hemophilic children, severely compromising the clotting process.

As a result, the bleeding does not stop or prolongs to dangerous levels. If not properly managed at early infancy, hemophilia can cause lifelong disabilities and chronic illnesses. The treatment process commences at the identification of positive family history or the first instance of excessive bleeding.

Classification of Hemophilia Severity

The grading of hemophilia is based on the seriousness of the condition and ranges from mild, moderate, and severe. Severe hemophilic condition presents in children aged below one year, and has an estimated prevalence of between 43% and 70% of all Hemophilia A cases (Bertamino et al., 2017). The moderate severity instances occur in infants ranging between one and two years, and accounts for approximately 15% and 26% of all recorded cases. The mild category presents in children above two years, with an estimated incidence occurrence of between 15% and 30%. The clinical bleeding symptom criteria is widely utilized since infants with factor VIII levels of below one percent have little or no spontaneous bleeding. These patients also have moderate or mild hemophilia compared with infants with procoagulant activities of between one and five percent.

Signs and Symptoms

Depending on the activity levels of the FVIII, patients of hemophilia present a wide array of symptoms. Among the prominent signs is the excessive and uncontrollable bleeding, even after incidences of small cuts or lesions on the skin. This heavy loss of blood is attributed to the absent or inadequate factor VIII or IX, which impede the formation of fibrin. Congenital hemophilic children may also experience intracranial hemorrhage during birth, bleeding into joint cavities (hemarthrosis), and a protrusion at the back of a neonate’s head, which forms soon after birth (Moorehead et al., 2018).

Children may also demonstrate the refusal to use their joints due to the pain, tingling, stiffness, and crackling occasioned by the accumulation of blood. Infants may also have unexpalined bleeding after the umbilical cord detaches (Murtazamustafa et al., 2016). Gastrointestinal bleeding may be esily triggered by the ingestion of rough food particles, which bruises the GI tract. This can be identified through the frank red blood per rectum and unexplained abdominal pains (Moorehead et al., 2019). However, this symptom requires differential diagnosis to determine the exact underlying cause.

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Risk Factors

A positive family history and patient’s genotype are among the prominent non-modifiable risk factors for pediatric hemophilia. The interactions of the costimulatory genotype-immunogenotype may inhibit the development of the respective clotting factors (Garagiola et al., 2018). Male children are at a greater risk of genetically contracted hemophilia than their female counterparts. This is attributed to the possibility of inheriting a defective X chromosome from the mother through the X-linked recessive inheritance (Garagiola et al., 2018). Mutations in the F8 gene causes the child to develop Hemophilia A while the changes that occur in the F9 genetic component cause Hemophilia B. Therefore, genetic mutations are major risk factor for hemophilia among children.


Diagnosis of hemophilia is based on family’s history, physical exams, laboratory tests, and child’s medical record. Although the complete blood count (CBC) is normal in hemophilic people, the test provides useful insights on the various blood components, such as the platelets, which are integral in the clotting process. Other examinations guidelines include the analysis of the child’s neurological, musculoskeletal, gastrointestinal, and genitourinary systems for any abnormalities such as swellings, rigidity, joint tenderness, and distensions (Sachdeva et al., 2018). According to Aria et al. (2019) and Winter et al. (2017), clotting factor tests are significantly effective in determining whether the blood is clotting properly. Radiological investigations, such as MRI and head CT scans, can help in identifying any deformities in the child’s head.


Currently, there is no cure for hemophilia and children diagnosed with the condition have a relatively reduced immunity, which increases their susceptibility to other diseases. As a result, hemophilic people have a higher mortality rate and shorter life expectancy compared to the healthy population. Kloosterman et al. (2020) note that hemophilic people experience increased mortality risk and morbidities than the unaffected people. Bleeding in the skull and hemorrhages in the soft tissue, airways, and other internal organs are life-threatening, and increase the patient’s vulnerability to other severe complications. For instance, bleeding into joints and after the fall of the umbilical cord may cause excessive loss of blood and the possibility of death in the absence of immediate medical attention.

Treatment Options

The fists line of treatment for hemophilia is the infusion of factor concentrates to induce the development of the blood clotting components. For instance, the injection of desmopressin and fibrant sealants may assist the body to develop the critical elements which prevent excessive loss of blood (Young, 2019). Children with hemophilia A require the infusion of factor VIII, thrice a week since this protein does not last as long as factor IX in the body. Physical therapies are also fundamental in easing the joint pains, decreasing swelling, and enhancing the strength and range of motion in the affected areas. The primary role of this intervention is to prevent arthropathy (Stephenson et al., 2018). Vaccinations are recommended to minimize the adverse impacts of a person’s compromised immunity and vulnerabilities to diseases.


Pediatric hemophilia is a hereditary condition affecting an estimate one in 10,000 births. The major signs and symptoms are excessive and uncontrollable bleeding, intracranial hemorrhage at birth, oozing blood after the umbilical cord drops, large cephalohematoma in newborns, and hemarthrosis. The risk factors are positive family history, genetic mutations, patient’s gender, and a child’s costimulatory genotype-immunogenotype interactions. The treatment options include the infusion of factor concentrates, vaccinations, and physical therapy.

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NursingBird. (2022, October 3). Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options. Retrieved from


NursingBird. (2022, October 3). Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options.

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"Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options." NursingBird, 3 Oct. 2022,


NursingBird. (2022) 'Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options'. 3 October.


NursingBird. 2022. "Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options." October 3, 2022.

1. NursingBird. "Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options." October 3, 2022.


NursingBird. "Pediatric Hemophilia: Signs and Symptoms, Diagnosis, Treatment Options." October 3, 2022.