Understanding Rare Clotting Factor Deficiencies
Rare clotting factor deficiencies encompass a group of inherited bleeding disorders characterized by abnormalities in one or more clotting factors, vital proteins that regulate the blood's ability to clot and stop bleeding. The clotting process relies on the coordinated action of numerous clotting factors, each playing a specific role in a series of chemical reactions that culminate in the formation of a stable blood clot. When one of these factors is deficient or dysfunctional, the clotting process is disrupted, leading to prolonged bleeding episodes and an increased risk of hemorrhage.
While haemophilia A and B, caused by deficiencies in factor VIII and factor IX, respectively, are well-known examples of clotting factor deficiencies, there are several other rare clotting factor deficiencies involving factors such as I, II, V, V + VIII, VII, X, XI, or XIII. These disorders are diagnosed infrequently and are therefore less understood compared to hemophilia A and B. Many of these rare disorders have only been identified in the past few decades, underscoring the ongoing advancements in medical knowledge and diagnostic techniques.