Hemophilia overview and Definition

Hemophilia is a condition in which the clotting mechanism of the blood is altered.  There are many proteins which favours the clotting mechanism. When there is dysfunction of these proteins it might result in the bleeding disorder and clotting time is prolonged. There is dysfunction of the factor VIII and factor IX.

Clinical signs & symptoms

Hemophilia can result in:

  • Bleeding within joints that can lead to chronic joint disease and pain
  • Bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis
  • Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain

Differential Diagnosis


Several options are available for the diagnostic approach. They might experience joint bleeding or easy bruising.

Before pregnancy:

Genetic testing and counselling are available to aids in the determination of the risk of passing the condition onto a child. This may involve testing a sample of tissue or blood to look for signs of the genetic mutations that caused hemophilia.

During pregnancy:

A pregnant women with the history of hemophilia in her family can test for the hemophilia gene. The tests include:

 Chorionic villus sampling : A small sample of the placenta is removed from the womb and tested for the hemphilia gene usually during 11-14 weeks of pregnancy.

Amniocentesis : A sample of amniotic fluid is taken for the testing usually during 15 – 20 weeks of pregnancy.

After birth:

If hemophilia is suspected after the child has been born the blood test can usually confirm the diagnosis. Blood from the umbilical cord can be taken and it is tested at birth to know the familial history of hemophilia.


Hemophilia A: It is X linked recessive genetic disorder resulting in a deficiency of clotting factor VIII. The hemophilia A is called as classic hemophilia

Hemophilia B: It is X linked recessive genetic disorder resulting in a deficiency of clotting factor IX. It is called as chritsmas disease .

Hemophilia C: It is X linked recessive genetic disorder resulting in a deficiency of clotting factor XI.

The hemophilia occurring due to the deficiency of factor V is called as parahemophilia and it is the mild and rarest form of the disease.

A non genetic form of hemophilia is caused by autoantibodies against factor VIII and it is called as acquired hemophilia A. it is a rare but potentially life threatening bleeding disorder caused by the development of the autoantibodies directed against plasma coagulation factors.


As it is the genetic disease life long monitoring and treatment is needed, if any complications arises.


Since it is genetic origin genetic counselling is must for the treatment.