血液研究与血液疾病杂志

The Essentials of Hemophilia: Genetic Factors, Pathophysiological Aspects, and Clinical Symptoms

Tran F. Carolen*

Hemophilia, a rare but well-known bleeding disorder, has long captivated the curiosity of scientists and healthcare professionals alike. This condition, characterized by impaired blood clotting, is caused by deficiencies in specific clotting factors, leading to prolonged bleeding episodes even from minor injuries. In this article, we delve into the intricate details of hemophilia, uncovering its genetic basis, pathophysiology, and clinical manifestations. At the core of hemophilia lies a genetic mutation affecting genes responsible for encoding clotting factors essential for blood coagulation. The two most common types of hemophilia are hemophilia A and hemophilia B, caused by deficiencies in clotting Factor VIII (FVIII) and Factor IX (FIX), respectively.