Haemophilia is an inherited bleeding disorder in which the blood does not clot normally due to a lack of clotting protein. Children with haemophilia bleed for a longer time than others after an injury. Haemophilia commonly is of two types –A and B (uncommon is haemophilia C).
There are various clotting factors in blood which are required for clotting of blood in the event of an injury. Deficiency of certain clotting factors can impair the clotting mechanism and increase the bleeding time.Haemophilia A is deficiency of clotting Factor VIII in blood where as Haemophilia B is deficiency ofclotting factor IX in blood. Both Haemophilia A and B are X linked recessive disease. The incidence of Haemophilia A is 1:5000 males and that of haemophilia B is 1:25000 males making haemophilia A much more common that hemohilia B. They affect all races equally.
Since haemophilia is an X linked disease, females are asymptomatic carriers and it is the males who suffer the disease. Normal level of factor VIII in the blood is 50-150%. According to the level of factor VIII in blood , haemophilia can be classified into mild , moderate and severe.
|Type||Level of Factor VIII||Cause of Haemorrhage|
|Mild||>5%||Major trauma or surgery|
|Moderate||1-5%||Mild to moderate trauma|
About 30-50 % of severe haemophiliacs present during the neonatal period in the form of bleeding during circumcision, intracranial bleed, bleeding from the umbilical stump etc.
As children grow and become physically more active, symptoms may be observed in the form of swelling of a joint ( haemarthrosis), frequent bluish discoloration of the skin on mild injuries, prolonged bleeding from the oral cavity when teeth are erupting . Minor trauma in the oral cavity leading to prolonged bleeding may be seen. In children with the mild disease symptoms may only surface at the time of a surgery of tooth extraction.
Apart from the superficial bleeds , haemorrhage can also occur in the gastrointestinal system , genitourinary system, in the brain , which can impose a life threatening situation as well.
The definitive treatment is injecting the deficient factor VIII which immediately stops bleeding. Other symptomatic management is also done by the doctors depending on the site and extent of bleed.
It is important to know that haemophilia is easily manageable and many people in this world who are suffering from this disease are leading normal lives including indulging in sports activities. One example is prince Charles of England, which is why it is also called as the royal disease.
In case any parent notices that their child gets frequent bruises, joint swelling on minor injuries, prolonged bleeding from the gums, nose and even bleeding from the urinary tract or rectum in some cases, haemophilia should be thought of unless any other cause is evident. It is advisable to see your paediatrician for further screening and advice. The disease can be easily diagnosed by a set of blood tests.