Factor VIII Deficiency is a medical condition where the blood lacks the protein Factor VIII, which is essential in clotting. The word "Factor VIII" is spelled as [ˈfæktər ˈeɪt] in IPA phonetic transcription, with the "a" in "factor" pronounced as the short "a" sound, while the "a" in "eight" is pronounced as the long "a" sound. Deficiency is spelled as [dɪˈfɪʃənsi], with the stress on the second syllable, and the final "y" replaced with "i". Proper spelling is crucial in medical terminology to ensure clear communication and accurate diagnosis.
Factor VIII deficiency, also referred to as hemophilia A or classic hemophilia, is an inherited bleeding disorder characterized by a deficiency or absence of factor VIII in the blood, which is essential for proper blood clotting. This deficiency is caused by a mutation or genetic alteration in the F8 gene located on the X chromosome, leading to impaired production of factor VIII.
Factor VIII is one of the crucial clotting factors that plays a central role in the coagulation cascade, the process by which blood transforms from a liquid to a solid state to prevent excessive bleeding. In individuals affected by factor VIII deficiency, even minor injuries or trauma can cause prolonged bleeding, since the blood does not clot efficiently.
Symptoms of factor VIII deficiency typically include spontaneous bleeding into muscles and joints, resulting in pain, swelling, and limited range of motion. Other signs may manifest as easy bruising, frequent nosebleeds, prolonged bleeding after dental procedures or surgery, and heavy or prolonged menstrual periods in affected females.
Treatment for factor VIII deficiency primarily involves factor VIII replacement therapy, wherein the missing or deficient factor VIII is infused into the bloodstream to restore clotting abilities. This can be done on-demand to manage bleeding episodes or as a prophylactic measure to prevent bleeding in individuals who experience frequent bleeding episodes. With appropriate treatment and care, individuals with factor VIII deficiency can lead normal lives and minimize the risk of complications associated with excessive bleeding.