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Hemophilia – The Path to Diagnosis

Medically reviewed by Fatima Sharif, MBBS, FCPS
Written by Kelly Crumrin
Updated on August 16, 2024

When and how a bleeding disorder is diagnosed depends on the type of bleeding disorder, the severity of the condition, a person’s overall health, and sometimes even a person’s sex. A diagnosis can also depend on how quickly a medical professional spots the symptoms and suggests a referral to a hematologist.

Hemophilia is usually diagnosed by a hematologist — a specialist in disorders of the blood, bone marrow, and lymphatic system. In some cases, bleeding disorders are diagnosed by emergency room physicians, general practitioners, or gynecologists.

When Is Hemophilia Diagnosed?

Babies with severe hemophilia A may be diagnosed at birth and are often diagnosed within the first month of life. Families with a history of hemophilia may even request prenatal testing to check for a bleeding disorder during pregnancy.

Babies are not usually tested for hemophilia B until they are a few months old, since hemophilia factor IX requires time to develop. Babies with type 3 (severe) von Willebrand disease are usually diagnosed within the first year of life. For those with mild or moderate bleeding disorders, the condition may not be diagnosed until later in childhood or even adulthood.

Tests and What They Show

Some tests can discover the low levels of clotting factor that cause hemophilia, while other tests are performed to rule out other conditions.

Medical History and Physical Exam

The doctor will take a thorough history, asking about symptoms over time and any family history of bleeding disorders. This information will help them assess risk factors for hemophilia. The doctor may conduct a physical exam to check for pain and swelling associated with joint bleeds or other symptoms.

Clotting Tests

Several tests examine the makeup of blood and how effectively it clots. Clotting tests are performed in the laboratory using a blood sample. Hematologists may order these tests to gain a better understanding of what is causing bleeding problems.

Activated partial thromboplastin time (APTT) and prothrombin time (PT) tests both measure how long it takes for the blood to clot. APTT tests the effectiveness of factors VIII, IX, XI, and XII. PT tests factors I, II, V, VII, and X. APTT tests are usually abnormal for people with hemophilia A or B. PT tests are usually normal for people with hemophilia A or B, but abnormal for people with some other clotting factor deficiencies.

If von Willebrand disease is suspected, the doctor may order a von Willebrand factor ristocetin cofactor activity test. This test examines how well the von Willebrand factor functions. Factor VIII clotting tests can also influence a diagnosis, since some people with von Willebrand disease have low levels of factor VIII.

Clotting Factor Assay

The main test for diagnosing hemophilia is a clotting factor assay. A clotting factor assay involves taking a blood sample and performing a laboratory test to establish the amount of each clotting factor present in the blood. Based on which clotting factor is deficient and how low the factor level is, the hematologist can often diagnose the type of bleeding disorder and its severity.

Genetic Testing and Family Planning

People with a family history of hemophilia may choose to be tested to find out if they are carriers of the gene before becoming pregnant. Knowing the odds helps some families feel better prepared. Some who are carriers for hemophilia also have mild hemophilia themselves and may be at risk for excessive bleeding during childbirth. Treating clotting deficiency before and after childbirth can help prevent dangerous hemorrhages (bleeds).

Similarly, someone with no known family history of hemophilia who gives birth to a child with a bleeding disorder may choose to have genetic testing to find out whether the condition has a familial basis. Finding out that genes for bleeding disorders run in the family can be frightening, but it can also encourage other family members to look for symptoms, get tested, and seek treatment that may prevent life-threatening bleeds.

Other Tests

A complete blood count (CBC) can determine whether clotting problems are being caused by an abnormally low level of platelets, blood cell fragments necessary for proper clotting. If platelets are low, bleeding problems may be caused by a platelet disorder and not a bleeding disorder. Low platelets levels may also be present in type 2B von Willebrand disease.

Fibrinogen is another name for factor I. A fibrinogen test measures the level of this factor in the blood.

If other tests for von Willebrand disease are inconclusive, the doctor may order a test of von Willebrand factor multimers to check the structure of the von Willebrand factor proteins. Multimers are proteins which can help identify the type of von Willebrand disease.

Ruling Out Other Conditions

Several other conditions can produce bleeding and bruising symptoms like those seen in bleeding disorders. Conditions that may resemble hemophilia or another bleeding disorder include vitamin K deficiency, a platelet disorder such as idiopathic thrombocytopenia purpura, and cancers such as leukemia or lymphoma. Your doctor may order other tests to confirm these conditions aren’t causing the symptoms. The process of ruling out similar conditions is referred to as differential diagnosis.

Gender Differences in Diagnosing Hemophilia

Due to the way hemophilia is inherited, doctors believed for many years that only people assigned male at birth had bleeding disorders, while people assigned female at birth were always asymptomatic carriers. In recent years, doctors have recognized that symptoms of bleeding disorders tend to be overlooked in some carriers.

This was partly due to a poor understanding of how hemophilia manifests in women. The first symptom of a bleeding disorder for some is menorrhagia, or heavy menstrual bleeding, which is often dismissed. Menorrhagia may cause anemia (low red blood cell count) that leads to weakness and fatigue. Later, bleeding disorders may cause heavier-than-normal bleeding during surgeries, pregnancy, or after childbirth. Since some bleeding is expected with all of these events, doctors may not recognize an undiagnosed bleeding disorder.

Although von Willebrand disease affects all genders equally, people are more likely to be diagnosed if they have heavier-than-normal bleeding with menstruation, pregnancy, and childbirth. According to the Centers for Disease Control and Prevention (CDC), about one-fifth of the time, women are diagnosed with von Willebrand disease by a gynecologist.

What Is the Prognosis for Hemophilia?

With proper treatment, most people with hemophilia have a normal life span. Most people with hemophilia die from the same conditions most other people do, such as cancer and heart disease. Life expectancy may be slightly shorter for some people with severe, difficult-to-treat bleeding disorders.

Talk With Others Who Understand

MyHemophiliaTeam is the social network for people living with hemophilia and their friends and family members. Members come together to ask questions, give advice, and share their stories about life with hemophilia.

Have you been diagnosed with hemophilia? What was your journey to diagnosis like? Share your experience below, or start a conversation by posting on your Activities page.

Updated on August 16, 2024
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Fatima Sharif, MBBS, FCPS graduated from Aga Khan University, Pakistan, in 2017 after completing medical school. Learn more about her here.
Kelly Crumrin is a senior editor at MyHealthTeam and leads the creation of content that educates and empowers people with chronic illnesses. Learn more about her here.

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