Hemophilia – The Path to Diagnosis | MyHemophiliaTeam

Connect with others who understand.

sign up Log in
Resources
About MyHemophiliaTeam
Powered By

Hemophilia – The Path to Diagnosis

Medically reviewed by Todd Gersten, M.D.
Written by Kelly Crumrin
Updated on September 17, 2021

When and how a bleeding disorder is diagnosed depends on what type of bleeding disorder the person has, the severity of their condition, and sometimes their gender. It can also depend on how quickly a medical professional spots the symptoms and refers them 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.

How 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 because factor 9 (IX) requires time to develop. Babies with type 3 (severe) von Willebrand disease (VWD) are usually diagnosed within the first year. For those with mild or moderate bleeding disorders, the condition may not be diagnosed until later in childhood or even adulthood. You will usually see Roman numerals in any discussion of clotting factors.

Tests and What They Show

Some tests can provide proof of low levels of clotting factor, while others 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 family history of bleeding disorders that 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 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 level of the factor is, the hematologist can often diagnose the type of bleeding disorder and its severity.

Clotting Tests

Unlike clotting factor assays, which determine the amount of factor, clotting tests check how well the clotting mechanism works. Several different tests examine the makeup of the 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) both test 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 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 VWD diagnosis because some people with VWD have low levels of factor VIII.

Genetic Testing

Women 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 women who are carriers for hemophilia have mild hemophilia themselves and may be at risk for excessive bleeding after giving birth. Treating clotting deficiency before and after childbirth can help prevent dangerous hemorrhages (bleeds).

Similarly, women with no family history who give birth to a child with a bleeding disorder may undergo genetic testing to find out whether the condition has a familial basis. Some mothers find out they also have low levels of clotting factor and begin treatment. 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.

Fibrinogen is another test that may be ordered. Fibrinogen is another name for factor I, and a fibrinogen test measures the level of this factor.

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

Ruling Out Other Conditions

Several other conditions can produce bleeding and bruising like that seen in bleeding disorders. The process of ruling out similar conditions is referred to as differential diagnosis. To list just a few, conditions that may resemble hemophilia, VWD, or another bleeding disorder include vitamin K deficiency, a platelet disorder such as idiopathic thrombocytopenia purpura (ITP), and cancers such as leukemia or lymphoma.

Gender Differences in Diagnosing Hemophilia

Due to the way hemophilia is inherited, doctors believed for many years that only boys and men had bleeding disorders, and girls and women were always asymptomatic carriers. In recent years, more doctors have recognized that symptoms of bleeding disorders tend to be overlooked in women. Part of the explanation for the failure to diagnose and treat females on par with males is due to the fact that there was a poor understanding of how the disease manifests in women. The first symptom of a bleeding disorder for some girls 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, women with bleeding disorders may have heavier-than-normal bleeding with surgeries, during pregnancy, or after childbirth. Since some bleeding is expected with all of these events, doctors may not recognize an undiagnosed bleeding disorder.

Although VWD disease affects men and women equally, women are more likely to be diagnosed than men due to heavier-than-normal bleeding with menstruation, pregnancy, and childbirth. About two-thirds of those treated for VWD at hemophilia treatment centers are female.

Women are often diagnosed with VWD much later than men. The average age of VWD diagnosis for women is 34; for men, it is 22. About one-fifth of the time, women are diagnosed with VWD by their gynecologist.

What Is the Prognosis For Hemophilia?

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

Condition Guide

Updated on September 17, 2021
All updates must be accompanied by text or a picture.

Become a Subscriber

Get the latest articles about hemophilia sent to your inbox.

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Todd Gersten, M.D. is a hematologist-oncologist at the Florida Cancer Specialists & Research Institute in Wellington, Florida. Review provided by VeriMed Healthcare Network. Learn more about him 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

Recent Articles

Welcome to MyHemophiliaTeam — the place to connect with others living with hemophilia. This vide...

Getting Started on MyHemophiliaTeam (VIDEO)

Welcome to MyHemophiliaTeam — the place to connect with others living with hemophilia. This vide...
In the past two years, gene therapy has become available for some people with hemophilia A and he...

Hemophilia Gene Therapy: 7 Things To Consider

In the past two years, gene therapy has become available for some people with hemophilia A and he...
If you or someone you love is living with severe hemophilia A or hemophilia B, you’re likely well...

7 Ways To Protect Your Joints With Severe Hemophilia

If you or someone you love is living with severe hemophilia A or hemophilia B, you’re likely well...
Hemophilia A is a rare bleeding disorder caused by a genetic mutation (change). Many people with ...

Who Gets Hemophilia A? Does Race, Sex, or Age Matter?

Hemophilia A is a rare bleeding disorder caused by a genetic mutation (change). Many people with ...
One of the first symptoms of a bleeding disorder like hemophilia is often bruising easily. Bruise...

Hemophilia Bruising: Pictures and What To Know

One of the first symptoms of a bleeding disorder like hemophilia is often bruising easily. Bruise...
Before the 1960s, it was rare for people with hemophilia to live past the age of 60. Today, the l...

Hemophilia B Prognosis: What Is the Life Expectancy?

Before the 1960s, it was rare for people with hemophilia to live past the age of 60. Today, the l...
MyHemophiliaTeam My hemophilia Team

Thank you for subscribing!

Become a member to get even more:

sign up for free

close
MyHemophiliaTeam
Add to your home screen
MyHemophiliaTeam Tap below and then 'Add to Home Screen'