Wat is de ziekte hemofilie?

Wat is de ziekte hemofilie?

Hemofilie is een aangeboren (erfelijke) stollingsstoornis waarbij een tekort bestaat aan stollingseiwitten: factor VIII (hemofilie A) of factor IX (hemofilie B). De mate waarin het stollingseiwit ontbreekt bepaalt de ernst van de ziekte.

Wat is er aan de hand bij hemofilie?

Bij hemofilie A ontbreekt stollingsfactor VIII (8), bij hemofilie B ontbreekt stollingsfactor IX (9). Hoe minder stollingsfactor, hoe erger de ziekte. Bij ernstige hemofilie is er geen stollingsfactor aanwezig. Hierdoor kunnen er spontaan bloedingen optreden, met name in gewrichten en spieren.

What does the F8 gene do?

From Genetics Home Reference. Learn more The F8 gene provides instructions for making a protein called coagulation factor VIII. Coagulation factors are a group of related proteins that are essential for the formation of blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss.

What does F8 stand for in medical terms?

View/Edit Mouse. Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, factor VIII is encoded by the F8 gene. Defects in this gene result in hemophilia A, a recessive X-linked coagulation disorder.

What is the abbreviation for factor 8?

For the drug, see Factor VIII (medication). For the documentary, see Factor 8: The Arkansas Prison Blood Scandal. Factor VIII ( FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, factor VIII is encoded by the F8 gene.

Does factor 8 (F8) play a role in Turkish hemophilia A?

Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors. The risk of extra-hepatic portal vein obstruction increased with increasing factor VIII levels and was only partially dependent on the acute phase reaction.