Hemophilia Profile Test
Hemophilia is an inherited bleeding disorder that results from the deficiency of clotting factor VIII (hemophilia A) or clotting factor IX (hemophilia B). There is also hemophilia C, which is very rare and occurs due to the deficiency of clotting factor XI. Clinically, the disease exhibits bleeding symptoms and thus requires a comprehensive laboratory investigation plan for successful management.
The hemophilia profile constitutes a series of blood tests that measure the levels of clotting factors circulating in the blood to diagnose or monitor the treatment of hemophilia A or B.
The test may also be done as part of an evaluation for a bleeding disorder called von Willebrand disease, resulting from decreased factor VIII.
What is the Hemophilia Profile used for?
The hemophilia profile test is performed:
To definitively diagnose hemophilia and determine its type and severity
To identify individuals with blood clotting issues and rule out other conditions
Screen babies for hemophilia with a family history
To monitor the effectiveness of the treatment in lowering the risk of blood clot
Which Tests are Included in Hemophilia Profile?
The diagnosis of hemophilia involves screening tests and clotting factor tests.
Screening tests evaluate the general health and blood clotting ability, while coagulation assay helps clinicians determine the type and severity of hemophilia.
Basic screening tests of hemophilia include:
Complete Blood Cell (CBC) Count:
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This standard test measures the number of red blood cells, white blood cells, platelets, and hemoglobin in the blood. People with hemophilia usually have normal CBC counts, though patients who have recently had heavy or prolonged bleeding may have low red blood cell counts and hemoglobin levels.
Prothrombin Time (PT):
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This test measures the clotting activity of factors I, II, V, VII, and X. If the value of any of these factors is low, blood may take more time to clot. The PT is normal in individuals with hemophilia A or B.
Activated Partial Thromboplastin Time (APTT) Test:
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APTT measures how long it takes for the blood to clot after adding certain chemicals. The test measures the clotting ability of factors VIII, IX, XI, and XII. If the levels are low, it signifies that blood may take a longer time to clot.
Fibrinogen Test:
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This test also measures the clotting ability of factor I. It is performed when the PT or aPTT result is abnormal.
Symptoms of Hemophilia
While the symptoms of hemophilia vary based on the amount of clotting factors in the blood, those with bleeding symptoms can suffer with :
Unexplained bruising on walking or after intramuscular vaccination
Prolonged bleeding from cuts and injuries
Spontaneous and hard-to-stop nose bleed
Joint and muscle bleeding leading to swelling and pain
Blood in stool, urine, vomit, and when coughing
Excessive bleeding during and after surgery
Bleeding of mouth and gums
Preparation for the Test:
This test requires overnight fasting. Also, blood-thinning medications, such as heparin, should be stopped before giving a blood sample.
Interpretations of Test
APTT Test:
Positive results(Abnormal)
This result indicates hemophilia, with blood taking longer than normal to clot. However, it doesn't specify the type of hemophilia the patient has.
Negative result
Having this finding does not mean that the individual does not have hemophilia.
Coagulation Assay:
In a coagulation assay, results are usually predicted as percentages of "normal" clotting factor levels. An individual is considered hemophilic if their clotting factor activity is less than 40% of normal.
Meanwhile, the severity of hemophilia is predicted based on the levels of clotting factors provided in the table below.
|
Levels of clotting factor in the blood |
Severity |
|
Greater than 5% but less than 40% |
Mild hemophilia |
|
1% to 5% |
Moderate hemophilia |
|
Less than 1% |
Severe hemophilia |
FAQs
Why do I need a Hemophilia Profile test?
You may need to do this test if you have
- Symptoms of bleed-related problems such as excessive bruising, frequent nose bleed, blood in urine and stool, heavy menstrual period, etc.
- A family history of clotting disorder
How is the sample collected for a Hemophilia Profile Test?
A blood sample from a vein in your arm is collected using a small needle, with the whole procedure taking less than five minutes to complete.
What are the two most commonly requested blood clotting tests in Hemophilia Profile?
Standard clotting tests such as the prothrombin time (PT) and activated partial thromboplastin time (aPTT) are commonly advised tests to determine the suspected bleeding disorder, certain liver diseases, or the risk of bleeding during surgery.
Are there any risks associated with a Hemophilia Profile blood test?
This test involves negligible risk, although there might be slight soreness or tenderness around the site where the needle goes in and out. Rarely did the site become infected.
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