Hemophilia or haemophilia is a rare blood disorder wherein the blood does not clot properly or normally. It is an inherited or genetic disorder of insufficient blood-clotting proteins. Persons with hemophilia bleed longer than they would if their blood clot normally. Small cuts and bruises aren’t the problem, internal bleeding is, as this can damage organs and tissues. Such situation can be life-threatening for a person with hemophilia.
Types of hemophilia
There are several types of hemophilia which is classified according to to the deficient clotting factor:
Hemophilia A – this is the most common type of the disorder, with the insufficiency in blood clotting factor VIII.
Hemophilia B – the second most common type, with the insufficient in blood clotting factor IX.
Hemophilia C – caused by the insufficient blood clotting factor XI, with mild signs and symptoms.
Causes of hemophilia
Hemophilia is inherited but there are people with hemophilia that have no family history of the disorder. They acquired the disease through genetic change or spontaneous mutation.
Hemophilia A or B is caused by the gene located on X chromosomes. Thus, it is not passed on from father to son. This is because hemophilia in boys are passed from their mother through one of her genes. Most of the women too are simply carriers of the defective gene.
Hemophilia C can occur in both girls and boys because this can be passed by either parent.
Signs and symptoms of hemophilia
Signs and symptoms of the disorder can vary, depending on the level of clotting factors. There are three levels recognized, according to the level of clotting factors amounts in the blood. These are:
Mild hemophilia – above 5% of clotting factors, may not have any symptoms until the skin or tissue or wounded, either by dental procedure or surgery and there is prolonged bleeding.
Moderate hemophilia – 1% to 5%, symptoms for persons with inherited moderate hemophilia will be noticeable early, which includes joint bleed. If there is a joint bleed, the patient will feel a tingling sensation, pain and irritation in the joint.
Severe hemophilia – less than 1%, with symptoms similar to those with moderate hemophilia, though this occurs frequently and severely. Other symptoms includes:
blood in feces (stools)
blood in urine
tightness in the joints
unexplained gum bleeding
several large or deep bruises
joint pain or swelling
unexplained bleeding or bruising
Treatment for hemophilia
Some of the treatments doctors recommend to patients are:
anti-fibrinolytics or clot-preserving medications
regular infusions of DDAVP or desmopressin
With proper treatment, care and support, people with hemophilia can still enjoy an active and productive life.