What is Involved in Making a Diagnosis of Hemophilia?

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  • Written By: H. Lo
  • Edited By: Lauren Fritsky
  • Last Modified Date: 09 October 2019
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Hemophilia is a bleeding disorder in which a person experiences prolonged bleeding because he is missing or lacking a blood clotting factor. Diagnosis of hemophilia generally involves a blood test that reveals the absence or deficiency of the specific clotting factor. Depending on the missing factor, a person might have hemophilia A, B, C or von Willebrand disease. Usually, diagnosis of hemophilia follows an awareness of a family history of the condition or someone exhibiting symptoms of the disorder.

Typically an inherited disorder, hemophilia mostly affects men, although women can be carriers of the gene. If there is a known family history of hemophilia, an expectant mother can opt to have a prenatal test to aid in the potential diagnosis of hemophilia in the fetus. Hemophilia itself can be mild or severe. A person with a mild case of the disorder might not exhibit many signs, so a diagnosis of hemophilia might occur only after a surgery or trauma causes excessive bleeding. For a person with severe hemophilia, diagnosis might occur earlier, as he might consistently exhibit signs and symptoms of the disorder.


The main symptom of hemophilia is bleeding. Whether the bleeding is external or internal, if it is easily-obtained, prolonged or unexplained, it might be an indicator of the disorder. For example, a person with hemophilia might experience persistent nosebleeds or have many bruises. In addition, internal bleeding can also cause blood to fill a person’s joint spaces, resulting in joint inflammation and pain. Also, prolonged bleeding following an injury or surgery can be a sign of hemophilia, and other symptoms include double vision, intense fatigue and painful headache.

While some symptoms, such as nosebleeds, might not demand immediate medical attention, there are serious complications that can arise from hemophilia. Examples of serious complications include bleeding associated with the abdominal area, as well as the head and neck. These complications can be life-threatening and, thus, a person who experiences them should seek emergency medical attention. Without proper treatment of hemophilia, severe bleeding can lead to death.

Even though there is no cure for hemophilia, treatment options enable those who have the disorder to live normal lives. To maintain a mild case of hemophilia, a person might need to have desmopressin (DDAVP) injections. For a severe case, a person might require clotting factor infusions. In the case of hemophilia C, treatment might involve plasma infusions.


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