Haemophilia, a rare inherited bleeding disorder, is characterized by intra-articular and intramuscular bleeding and unstoppable bleeding after trauma.

Easy bruising in early childhood, presence of spontaneous bleeding, especially intra-articular and intramuscular bleeding, and a history of longer than expected bleeding after intervention or trauma should suggest haemophilia. Haemophilia is a rare inherited bleeding disorder caused by a deficiency of clotting factors. Factor VIII deficiency is known as Haemophilia A, while factor IX deficiency is known as Haemophilia B. Haemophilia A accounts for 85 % of all haemophilia patients and Heamophilia B accounts for about 15 %.

Haemophilia A occurs in about one in 5000 male births. Clinical signs appear as the baby grows, especially when it starts to crawl and walk. A significant proportion of patients are diagnosed due to uncontrolled bleeding after circumcision. The higher the severity of haemophilia, the earlier the age of diagnosis and the more severe the clinical manifestations. For this reason, bleeding in patients with mild haemophilia usually occurs after severe trauma or surgical interventions, causing the diagnosis to be made at an older age.

The severity of bleeding manifestations is directly related to factor VIII or IX activity. Patients with factor activity <1 % show “severe haemophilia”, those with factor activity between 1-5 % show “moderate haemophilia” and those with factor activity between 5–40 % show “mild haemophilia”.

Haemophilia is a congenital bleeding disorder with X-linked recessive inheritance. The FVIII and IX gene is located on the long arm of the X chromosome (Xq27 and Xq28). The disease is mostly transmitted from female carriers to their male children. Though it can also occur in girls, this is very rare.