Easy ecchymosis formation in early childhood, especially the presence of intra-articular and intramuscular spontaneous bleeding, and the presence of a longer-than-expected bleeding history after interventions or trauma are associated with hemophilia. Hemophilia is a rare inherited bleeding disorder that results from the deficiency of factor VIII or IX. Factor VIII deficiency is called Hemophilia A and factor IX deficiency is called Hemophilia B. 85% of all hemophilia patients are Hemophilia A and 15% are hemophilia B.
Hemophilia A occurs as one in approximately 5,000 male births. Its diagnosis increases with age. As the baby grows, clinical signs emerge, especially when they start crawling and walking. As the severity of hemophilia increases, the age of diagnosis shifts to earlier periods, and clinical findings are more severe. For this reason, bleeding in patients with mild hemophilia usually occurs after more serious traumas or surgical interventions, causing the diagnosis to be made at an older age.
The severity of the bleeding findings is directly related to the degree of deficiency of factor VIII or IX. Patients with a factor activity of <1% show a "severe hemophilia" clinic, while those between 1-5% show a "moderate hemophilia" clinic, and those with >5% show a "mild hemophilia" clinic.
Bleeding into the articular cavity and intramuscular bleeding are the most typical indications of the disease. Depending on the stage of the disease and the trauma encountered, there may be signs of bleeding starting from the neonatal period. Children with moderate or severe hemophilia develop articular bleeding, hematoma, or traumatic oral bleeding after they begin crawling and walking. A significant number of patients are also diagnosed due to bleeding that cannot be stopped after circumcision.
Hemophilia is an X-related recessively inherited congenital bleeding disorder. The FVIII and IX genes are located on the long arm of the X chromosome (Xq27 and Xq28). The disease mostly passes on from carrier women to male children; however, it can also be rarely seen in female children.