There are three types of hemophilia. The two most common types, hemophilia A and hemophilia B, are similar in that they usually involve excessive bleeding or bruising after a minor injury, dental procedure, or surgery; bleeding from the gums or nose; or spontaneous bleeding in the joints, especially in the ankle, knee, and elbow.
If hemophilia is suspected, it's important to seek a diagnosis and treatment as soon as possible to avoid any complications from untreated bleeding episodes.
Many other conditions have similar symptoms as hemophilia B, therefore, it is imperative that your healthcare provider takes a detailed medical history, does a thorough physical examination, and orders specialized labs, imaging, and blood tests to make a prompt and accurate diagnosis.
This article will discuss the diagnostic process.
The first signs of hemophilia usually occur in childhood. Sometimes an infant will experience prolonged bleeding after getting a routine vaccination shot or vitamin K injection at birth. Or a parent may notice that a bruise is not going away after a minor fall or that a cut is slow to heal.
Parents who suspect their child may have hemophilia may check the child's body for any other signs of bruising or swelling and ask family members if they know of other relatives who experienced the same thing.
A healthcare provider will take a detailed history prior to performing a physical exam. They may start by asking you your age, gender identification, and the pronouns you use.
Next, they will ask about your symptoms, also known as your chief complaint. Taking a detailed history is essential to making an accurate diagnosis so your provider will also likely ask you about the following:
During the physical exam, your healthcare provider will look for bruising, pallor (sickly paleness), joint deformity, and limb/joint asymmetry. They may look for evidence of swelling like discolored areas of the skin and ask you if any areas of the body feel warm or painful.
Next, the healthcare provider may palpate (feel by physical touch) for joint tenderness or swelling (joint effusion) in the elbow, wrist, knee, ankle, and neck, or muscle (most commonly the quadriceps, hamstrings, iliopsoas, biceps, and triceps).
Your healthcare provider may also move or ask you to move your limbs to assess range of motion (how far a body part can move or stretch) and pain with movement. Limited range of motion and signs of joint swelling may raise clinical suspicion for hemarthrosis, a common symptom of hemophilia B.
Your healthcare provider will order numerous blood tests, including a complete blood count (CBC), coagulation tests to check the function of clotting factors, tests to assess bleeding times, and genetic testing, as necessary.
If hemophilia B is suspected based on symptoms, early blood work, and coagulation tests, a more specialized blood test to measure factor IX, called a factor IX (FIX) assay, may be ordered to measure levels of this specific blood-clotting protein.
The following FIX levels denote the severity of hemophilia B:
Once an individual is diagnosed with hemophilia B, genetic testing to look for the specific mutation in the F9 gene responsible for your hemophilia B may also be performed.
Although imaging is not needed to make a diagnosis of hemophilia B, it is helpful in the early detection and management of symptoms. The hallmark symptom of hemophilia B is hemorrhage, particularly into joints and/or soft tissue, also known as hemarthrosis.
If left untreated, hemarthrosis can lead to contracture (stiffening of joints and muscle) and limited range of motion. The following imaging modalities may be used to uncover hidden bleeding in those with hemophilia B:
Many diseases that present similarly to bleeding episodes should be excluded before a diagnosis of hemophilia B is reached. These include:
Hemophilia B may be suspected based on an individual's symptoms, bleeding history, and family history. Normal blood work and coagulation tests do not rule out the diagnosis.
Typically, a specialized blood test for factor IX levels, called a factor IX assay, must be done to confirm a diagnosis of hemophilia B and determine the severity of the condition. Genetic testing that can detect mutations on the F9 gene may also be done.
A diagnosis of hemophilia B can be jarring at first, but there may be comfort in knowing the exact cause of your bleeding episodes. Knowing the cause means you can begin addressing your symptoms.
Hemophilia B may affect your life by creating mobility difficulties, unexpected bleeding, pain, and uncertainty in daily activities. So, it's important that you learn how to recognize signs of bleeding and be prepared for bleeding episodes.
If you or your child does receive a hemophilia B diagnosis, be sure to seek out the nearest certified hemophilia treatment center (HTC). The specialists there can help you chart the best course of treatment and management, which can empower you to live with less fear.
It's also important to ask for support from trusted family members and friends, who may be able to help in a time of need. Hemophilia can affect your mental health, so you may also find value in connecting with local, national and international support organizations.