What Is Hemophilia And Recognizing Its 5 Core Symptoms

Hemophilia is a genetic blood disorder that causes blood clotting-related problems, such as prolonged bleeding or nonstop bleeding. This condition occurs when the body lacks the required protein to form blood clots. While hemophilia cannot be cured, treatment options can help enhance one’s quality of life (QOL).

What you need to know:

What is hemophilia?
Types of hemophilia
What are hemophilia symptoms?
What causes hemophilia?
Diagnosis and tests

What is hemophilia?

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Hemophilia is a blood disorder that occurs because of the lack of proteins required for blood clotting. Hemophilia can make you bleed for a longer time. While minor cuts are not much of an issue, internal bleeding in your knees, ankles, and elbows can cause significant damage to your organs and tissues and can be life-threatening as a result.

Types of hemophilia

Here are three primary types of hemophilia:

Hemophilia A: This is the most prevalent form of hemophilia, which occurs when there is a deficiency in clotting factor VIII. It affects approximately 10 in 100,000 individuals.
Hemophilia B: Also known as Christmas disease, hemophilia B results from a lack of clotting factor IX. It is less common than hemophilia A, with an estimated occurrence of about 3 in 100,000 people.
Hemophilia C: Hemophilia C is the rarest type, and it occurs when there is insufficient clotting factor XI. Only 1 in 100,000 individuals are affected by this variant.

What are hemophilia symptoms?

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Symptoms of hemophilia mainly involve tendencies to bleed abnormally, which can result in excessive bruising or bleeding episodes. The main haemophilia symptoms are:

Excessive bruising: People with hemophilia might notice large bruises from minor injuries.
Extended bleeding: Extended bleeding periods can occur after surgeries, dental work, or simple cuts.
Sudden bleeding: There might be instances of bleeding that happen without reason, like sudden nosebleeds or unexplained bleeding.
Joint discomfort: Bleeding into joints such as the ankles, knees, hips, and shoulders can lead to pain, swelling, or a warm sensation in these areas.
Cranial bleeding: In rare cases, severe hemophilia can cause a brain hemorrhage. This can cause intense headaches, blurred vision, or severe sleepiness, necessitating urgent care.

What causes hemophilia?

Hemophilia is passed down through families due to changes in the genes. These changes are responsible for deficient levels of blood clotting proteins. However, about 20% of hemophilia cases occur randomly, indicating that the disorder can also happen to people with no family history of bleeding abnormalities.

Diagnosis and tests

Most healthcare professionals begin with a detailed review of your medical history and physical examinations. To further investigate, they may conduct the following health tests:

Complete Blood Count (CBC): This examination evaluates the counts of different blood cells.
Prothrombin Time (PT) Test: This test measures how long your blood takes to form a clot.
Activated Partial Thromboplastin Time (aPTT) Test: This is another blood test performed to determine blood clotting time.
Specific tests: These tests aim to identify the levels of particular clotting factors, like factors VIII and IX, essential for blood clotting.

While hemophilia is a severe condition, it can be treated by replacing the deficient blood clotting proteins with injections to enhance the clotting procedure. Learning to administer them yourself can help you become independent and worry-free.

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