Haemophilia is a rare genetic condition that impairs the body's ability to control bleeding. It emerges due to the absence or deficiency of coagulation factors that help blood clot. Usually passed from mother to son, it mainly impacts males. Here are some key insights about this unusual blood clotting disorder.
Experts believe the condition originated thousands of years ago through spontaneous gene mutations. As carriers did not experience symptoms, it was passed through generations unnoticed. Two types exist – Haemophilia A caused due to lack of clotting factor VIII and Haemophilia B triggered by factor IX deficiency. Symptoms include prolonged and excessive bleeding from minor injuries, wounds, bruises or even spontaneously into muscles and joints. Without treatment, internal bleeding can become life-threatening.
Severity depends on residual factor levels in the blood. Mild cases involve 5-40% normal levels while severe type has less than 1%. Though incurable, regular intravenous injections of missing clotting factors can curb episodes and enable normal life expectancy. Challenges remain as substituted factors have short half-lives requiring frequent infusions. Gene therapy and non-factor treatments show promise but await mainstream use. Proper care and acceptance will help the rare disease community cope better. Overall, the blood disorder needs more understanding and support worldwide.
