Hemophilia Blood Test

What is Hemophilia?

Hemophilia is a genetic bleeding disorder that impairs the body's ability to form blood clots properly. It is caused by deficiencies in specific clotting factors, particularly Factor VIII in Hemophilia A or Factor IX in Hemophilia B. The Prothrombin Time and Partial Thromboplastin Time test is the most important test for diagnosing hemophilia as it detects abnormalities in the clotting cascade.

RECOMMENDED TEST Prothrombin Time (PT) (INR) and Partial Thromboplastin Time (PTT)
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What causes hemophilia?

Hemophilia is caused by genetic mutations that lead to deficiencies in specific blood clotting proteins called clotting factors. In Hemophilia A, the most common type, there is a deficiency of Factor VIII, while Hemophilia B involves a deficiency of Factor IX. These genetic mutations are typically inherited in an X-linked recessive pattern, meaning the condition primarily affects males who inherit the defective gene from their mothers. The absence or low levels of these clotting factors prevent blood from clotting normally, resulting in prolonged bleeding episodes even from minor injuries.

What is the best test for hemophilia?

The Prothrombin Time and Partial Thromboplastin Time test is the most important initial screening test for hemophilia because it measures how long it takes for blood to clot and can detect abnormalities in the clotting cascade. The PTT portion of this test becomes significantly prolonged when clotting factors VIII or IX are deficient, which are the factors affected in hemophilia. Once screening tests show abnormalities, specific clotting factor assays are performed to confirm the diagnosis and determine whether you have Hemophilia A or B and assess its severity. The PT/INR component helps rule out other bleeding disorders and provides a comprehensive view of your blood's clotting ability.

When should I get tested for hemophilia?

You should get tested if you experience unexplained or excessive bleeding that doesn't stop easily, frequent nosebleeds that are difficult to control, unusual bruising from minor bumps or without any injury, or prolonged bleeding after dental work or surgery. Testing is also important if you have a family history of hemophilia or bleeding disorders, especially if you are male or a woman who might be a carrier. Early diagnosis is crucial because it allows for proper treatment planning and helps prevent serious bleeding complications that can occur with undiagnosed hemophilia.

What are the symptoms of hemophilia?
Symptoms of hemophilia include unexplained and excessive bleeding that lasts longer than normal, frequent and large bruises that appear easily, prolonged bleeding from cuts or injuries, spontaneous nosebleeds that are difficult to stop, and bleeding into joints causing pain and swelling. People with hemophilia may also experience blood in urine or stool, prolonged bleeding after dental procedures or surgery, and in severe cases, spontaneous internal bleeding. The severity of symptoms depends on the level of clotting factor deficiency, with more severe cases experiencing spontaneous bleeding episodes without any obvious injury.
Who is at risk for hemophilia?
Males are at highest risk for hemophilia because it is an X-linked recessive genetic disorder, meaning the defective gene is carried on the X chromosome. Boys who inherit the affected X chromosome from their carrier mothers will develop the condition, while girls would need to inherit two affected X chromosomes, which is extremely rare. Women who are carriers may have mild symptoms but typically pass the condition to their sons. Anyone with a family history of hemophilia or unexplained bleeding disorders should consider genetic counseling and testing, as the condition runs in families and affects approximately 1 in 5,000 male births.
What happens if hemophilia is left untreated?
Untreated hemophilia can lead to serious and potentially life-threatening complications including repeated bleeding into joints, which causes permanent joint damage, chronic pain, and arthritis. Internal bleeding, particularly in the brain or other vital organs, can be fatal without prompt treatment. Muscle bleeds can lead to nerve damage and loss of function, while prolonged bleeding episodes can result in severe anemia and require blood transfusions. Without proper management, people with hemophilia face significantly reduced quality of life, disability from joint destruction, and increased mortality risk from uncontrolled bleeding events. Early diagnosis and consistent treatment with clotting factor replacement therapy can prevent these serious complications.
Can hemophilia be diagnosed with a blood test?
Yes, hemophilia can be diagnosed with blood tests that measure clotting function and specific clotting factor levels. The diagnostic process typically begins with screening tests like the Partial Thromboplastin Time, which becomes prolonged in hemophilia, followed by specific clotting factor assays that measure Factor VIII or Factor IX levels to confirm the diagnosis. These blood tests not only identify the presence of hemophilia but also determine which type you have and how severe it is based on the percentage of normal clotting factor activity. Genetic testing may also be performed to identify the specific mutation causing the condition.
How is hemophilia treated?
Hemophilia is treated primarily with clotting factor replacement therapy, where the missing clotting factor (Factor VIII or Factor IX) is infused into the bloodstream either on-demand during bleeding episodes or as preventive prophylaxis on a regular schedule. Newer treatments include extended half-life clotting factors that require less frequent infusions, and gene therapy approaches that are showing promising results. For minor bleeding, medications like desmopressin can stimulate the release of stored Factor VIII in mild Hemophilia A cases. Comprehensive care also includes physical therapy to maintain joint health, avoiding medications that interfere with clotting like aspirin, and working with a specialized hemophilia treatment center for coordinated care.
How can I prevent complications from hemophilia?
While you cannot prevent hemophilia itself since it is genetic, you can prevent complications by adhering to your prescribed clotting factor replacement therapy schedule, avoiding contact sports and activities with high injury risk, and informing all healthcare providers about your condition before any procedures. Regular exercise focused on low-impact activities helps maintain healthy joints and muscles, while avoiding medications that affect clotting like aspirin and ibuprofen reduces bleeding risk. Maintaining good dental hygiene prevents the need for invasive dental procedures, and wearing medical identification jewelry ensures proper emergency treatment. Regular monitoring with your hemophilia treatment team allows for early detection and management of joint problems or other complications.
What can I do at home for hemophilia?
At home, you can manage minor bleeding by applying direct pressure to cuts for at least 15 minutes, using ice packs on bruises and joint bleeds to reduce swelling, and keeping injured limbs elevated and rested. Learn to recognize early signs of bleeding so you can administer clotting factor replacement promptly if prescribed for home use. Maintain a safe home environment by removing tripping hazards and padding sharp furniture corners, especially for children with hemophilia. Keep detailed records of bleeding episodes and factor infusions to share with your healthcare team, and ensure you have adequate supplies of clotting factor concentrate at home. However, always seek immediate medical attention for serious bleeding, head injuries, or bleeding that does not respond to home treatment.
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If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.
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Prothrombin Time (PT) (INR) and Partial Thromboplastin Time (PTT)
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Fast & easy, results by email & SMS
No need to visit a doctor
Private & confidential
No insurance needed
Results explained
No extra fees paid at the lab

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