Hemophilia Definition, Causes, and Treatment

The word hemophilia definition literally means “lover of blood”. That human have 23 pairs of chromosomes. Out of which one pair of chromosome is responsible for determining the sex of an individual, these are called sex chromosomes. While men have a combination of XY chromosomes, females are XX. Patients suffering from Hemophilia have a faulty X- chromosome this can be inherited from either parents or can be the caused due a new mutation.

The haemophilic X chromosome does not contain blood clotting protein, in turn not coagulating the blood in case the patient bleeds. This is the hemophilia definition. Further, there are two types of clotting factors, deficiency of which is responsible for hemophilia A or hemophilia B. Deficiency of factor VIII which is produced in the liver leads to hemophilia A. Deficiency of clotting protein factor IX causes hemophilia B.

The can be only two causes of hemophilia:

  • Inherited deficient gene
  • New mutation

Hemophilia definition is incomplete without understanding the severity with which it affects a person. The severity of hemophilia depends upon the extent of deficiency of factor VIII.  The normal percentage of factor VIII activity in the blood should lie above 50%, whereas in cases of mild hemophilia, it would lie within the range of 5% to 50%. When the range is above 1% but below 5%, it is classified as moderate hemophilia. A person suffering from severe hemophilia has a factor activity o f less than 1%.

Amongst the three different types of Hemophilia, hemophilia A is more predominant. Deficiency of clotting factor VIII causes hemophilia A and it affects 1 male out of every 5000 around the world. Deficiency of clotting factor IX causes hemophilia b and it affects 1 out of every 20000 men around the world.

A woman can be a carrier of the deficient chromosome and may pass it on to her children, in spite of her not being a haemophiliac. For hemophilia to surface in women both the parents have to be haemophiliacs for her to inherit two deficient X chromosomes. This is why hemophilia in women is less frequent, though they can be carriers of the disorder.

Ascertaining hemophilia A in a child can be done as soon as he is born by taking samples of blood from the umbilical cord to check the count of the clotting factor VIII. However, tests for hemophilia B can only be done when the child is six months or older. Post six months, blood sample is checked for factor IX which determines whether the child is suffering from hemophilia B.

Hemophilia definition extends to spontaneous bleeding and bleeding into joints. Other characteristics of hemophilia may include bleeding profusely, bleeding for a prolonged period, internal bleeding and getting easily injured.

In the absence of natural clotting factors, external clotting factor is injected into the patient to clot blood during a bleeding injury. This missing factor replacement is done to enable clotting in case of bleed.

When the replacement therapy is used to treat a haemophiliac as and when he required the clotting factor, it is referred to as “on- demand” therapy. Under this, the patient only injects the clotting factor in case of an injury or a trauma. Patients who suffer from moderate level of hemophilia undertake this therapy. These clotting factors can be stored easily inside refrigerators at 4 degree Celsius.

When the replacement therapy is used as a preventive measure for hemophilia treatment, it is termed as prophylactic therapy. In such situations patients suffering from severe hemophilia infuse the clotting factor, even if there has been no instance of bleed. The increase in the clotting factor due to such infusions stops spontaneous bleeds and bleeding into joints in such patients. Hence, this is called a preventive therapy.

More Articles