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How to diagnose hemophilia?

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Hemophilia is a bleeding disorder caused by a lack of blood clotting factor. It can be diagnosed through a blood test and can be mild or severe. Symptoms include bleeding, bruises, joint pain, and fatigue. Treatment options include injections and clotting factor infusions.

Hemophilia is a bleeding disorder in which a person experiences prolonged bleeding because they lack or lack a blood clotting factor. The diagnosis of hemophilia usually involves a blood test that reveals the absence or deficiency of the specific clotting factor. Depending on the missing factor, a person could have hemophilia A, B, C or von Willebrand disease. Usually, the diagnosis of hemophilia follows awareness of a family history of the condition or someone exhibiting symptoms of the disorder.

Typically an inherited disease, hemophilia mostly affects men, although women can also carry the gene. If a family history of hemophilia is known, an expectant mother may choose to have prenatal testing 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 may not show many signs, so a diagnosis of hemophilia might only occur after surgery or trauma causes excessive bleeding. For a person with severe hemophilia, the diagnosis may come sooner, as they may consistently show 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 could be an indicator of the disorder. For example, a person with haemophilia might suffer from persistent nosebleeds or have many bruises. Additionally, internal bleeding can also cause blood to fill a person’s joint spaces, causing inflammation and pain in the joints. Also, prolonged bleeding following an injury or surgery can be a sign of hemophilia, and other symptoms include double vision, intense fatigue, and painful headaches.

While some symptoms, such as a nosebleed, may not require immediate medical attention, there are serious complications that can result 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, therefore, a person experiencing them should seek emergency medical care. Without proper hemophilia treatment, severe bleeding can lead to death.

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

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