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Factor VIII deficiency, also known as haemophilia A, is a blood disorder caused by a faulty F8 gene on the X chromosome. It affects mostly males, causing symptoms such as heavy bleeding and bruising. Treatment includes intravenous transfusions of Factor VIII or desmopressin.
Factor VIII deficiency is a blood disorder characterized by insufficient or malfunctioning factor VIII, one of the blood clotting factors, also known as antihemophilic factor (AHF). Factor VIII deficiency is the cause of haemophilia A, a disease in which the blood does not clot well after an injury, causing symptoms such as heavy bleeding and frequent bruising. Factor VIII is expressed by the F8 gene on the X chromosome and is an X-linked recessive trait. It affects only males or females who inherit the faulty F8 gene from both parents. Women are much more often asymptomatic carriers of the genetic defect.
Factor VIII deficiency is the most common cause of haemophilia. It results in the formation of blood clots with insufficient amounts of the protein fibrin, leading to weak clots and slow formation. About one in 5,000 men suffer 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 haemophilia A varies in severity depending on how much factor VIII is present in the patient.
Symptoms include episodes of internal and external bleeding, especially after trauma. Patients with more severe forms of the disease may experience excessive bleeding from minor injuries. Bleeding in the joints can lead to chronic symptoms including pain, impaired movement and even disfigurement. Hemophilia A is often diagnosed early in life, such as when a newborn develops severe bruising or intracranial bleeding following a forceps or vacuum birth. Excessive bleeding during a routine blood test or circumcision can also be the first manifestation of the disease.
Hemophilia A is treated with intravenous transfusions of Factor VIII, if needed, or as a preventative measure depending on the severity of the disease and the particular needs of the patient. The disease can also be treated with desmopressin, which releases factor VIII stored in the patient’s blood vessel walls. In some cases, the patient develops inhibitory antibodies against the transfusion-borne factor VIII. Factor VII transfusions are sometimes helpful in these cases.
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