What Is Factor VIII Deficiency?

Niki Foster
Niki Foster
Frequent bruising is one symptom of factor VII deficiency.
Frequent bruising is one symptom of factor VII deficiency.

Factor VIII deficiency is a blood disorder characterized by insufficient or poorly functioning factor VIII, one of the blood clotting factors, also known as anti-hemophilic factor (AHF). Factor VIII deficiency is the cause of hemophilia A, a disease in which the blood does not clot well after injury, causing symptoms such as serious bleeding and frequent bruising. Factor VIII is expressed by the F8 gene on the X chromosome and is a recessive X-linked trait. It only affects males, or females who inherit the defective F8 gene from both their parents. Women are much more often asymptomatic carriers of the genetic defect.

Factor VIII is expressed by the F8 gene on the X chromosome.
Factor VIII is expressed by the F8 gene on the X chromosome.

Factor VIII deficiency is the most common cause of hemophilia. It results in the formation of blood clots with insufficient amounts of the protein fibrin, leading to weak and slow forming clots. About one in every 5,000 men suffers from Factor VIII deficiency, and 30% have no family history, suggesting recently mutated genes. Different types of mutations in F8 lead to different types of Factor VIII deficiency, and hemophilia A varies in severity depending upon how much Factor VIII is present in the patient.

Factor VIII deficiency results in the formation of blood clots.
Factor VIII deficiency results in the formation of blood clots.

Symptoms include internal and external bleeding episodes, especially after trauma. Patients with more severe forms of the disease may experience excessive bleeding as a result of minor injury. Bleeding into joints can lead to chronic symptoms including pain, impaired movement, and even disfigurement. Hemophilia A is often diagnosed early in life, for example when a newborn develops severe bruises or intercranial hemorrhage as a result of forceps or vacuum delivery. Excessive bleeding during a routine blood test or a circumcision can also be the first manifestation of the disease.

Individuals with hemophilia are advised against donating blood.
Individuals with hemophilia are advised against donating blood.

Hemophilia A is treated with intravenous transfusions of Factor VIII, either as needed, or as a preventative measure depending upon the severity of the disease and the particular needs of the patient. The disease may also be treated with desmopressin, which releases Factor VIII stored in the walls of the patient's blood vessels. In some cases, the patient develops inhibitory antibodies to the Factor VIII delivered through transfusions. Transfusions of Factor VII are sometimes helpful in such cases.

Niki Foster
Niki Foster

In addition to her role as a InfoBloom editor, Niki enjoys educating herself about interesting and unusual topics in order to get ideas for her own articles. She is a graduate of UCLA, where she majored in Linguistics and Anthropology.

Niki Foster
Niki Foster

In addition to her role as a InfoBloom editor, Niki enjoys educating herself about interesting and unusual topics in order to get ideas for her own articles. She is a graduate of UCLA, where she majored in Linguistics and Anthropology.

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    • Frequent bruising is one symptom of factor VII deficiency.
      By: roblan
      Frequent bruising is one symptom of factor VII deficiency.
    • Factor VIII is expressed by the F8 gene on the X chromosome.
      By: Giovanni Cancemi
      Factor VIII is expressed by the F8 gene on the X chromosome.
    • Factor VIII deficiency results in the formation of blood clots.
      By: p6m5
      Factor VIII deficiency results in the formation of blood clots.
    • Individuals with hemophilia are advised against donating blood.
      By: Gina Sanders
      Individuals with hemophilia are advised against donating blood.
    • Some with factor VIII deficiency may require blood transfusions.
      By: sudok1
      Some with factor VIII deficiency may require blood transfusions.
    • An individual who lacks a sufficient amount of factor VIII may be prone to nosebleeds.
      By: ia_64
      An individual who lacks a sufficient amount of factor VIII may be prone to nosebleeds.
    • Individuals suffering from hemophilia may eventually require a blood transfusion.
      By: Max Tactic
      Individuals suffering from hemophilia may eventually require a blood transfusion.