Awareness on Hemophilia

What do you do when you cut yourself accidently while chopping vegetables, hurt your toe while playing football/cricket at school or nick your chin while shaving? Most people would apply a little pressure if the cut is small and let it heal on its own, or clean the area and cover it with cotton if the cut is a little deep.

Can you imagine a situation where the bleeding does not stop from this seemingly uneventful cut or nick?

Haemophilia/Hemophilia is a genetic bleeding disorder that is life threatening.

In persons with Hemophilia blood does not clot or coagulate normally due to a deficiency or the absence of clotting Proteins or Factors. Bleeding can be both external and internal even with minor injuries. The disease is incurable in nature and very expensive in terms of medication and care. Prolonged and recurrent bleeding can lead to permanent disabilities and bleeding from sensitive organs can lead even to death.

The blood coagulation mechanism is a process which transforms the blood from a liquid into a solid, and involves several different clotting factors. The mechanism generates fibrin which when activated, together with the platelet plug, stops the bleeding.

When coagulation factors are missing or deficient the blood does not clot properly and bleeding continues.

Patients with Hemophilia A or B have an X- linked genetic defect which results in a deficiency in one of the blood clotting factors VIII or IX.

Causes of Hemophilia

Persons with Hemophilia are born with it. It is caused by a fault in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosome.

Symptoms of Hemophilia

Hemophilia symptoms vary, depending on the degree of blood clotting factor (coagulation factor) deficiency and they also depend on the nature of any injury.

Three levels of hemophilia are recognized, according to the level of clotting factor amounts in the blood. Mild hemophilia may not have any symptoms until an event occurs which wounds the skin or tissue, such as a dental procedure or surgery, and results in prolonged bleeding. Those with inherited moderate hemophilia will be noticeable early on. The

Types of Hemophilia

There  are two main types of hemophilia - Hemophilia A (due to factor VIII deficiency) and Hemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated with spontaneous bleeding into joints and muscles and internal or external bleeding after injury or surgery. Acquired Hemophilia does not have a genetic history, the person develops this when the antibodies present in his/her body attack the clotting factors thereby preventing the mechanism from functioning properly. Patients here can be both male and female and the pattern of bleeding here is markedly different. This disorder is particularly associated with old age and sometimes complicates pregnancy.

Prenatal Testing : A pregnant women with a history of hemophilia is given a gene test during pregnancy, whereby a sample of placenta is removed from the uterus and tested for hemophilia, this test is called Chorionic Villus Sampling (CVS). Alternately if the child is suspected to have hemophilia, a simple blood test can determine whether the child/patient has hemophilia A/B and how severe the condition is? 

Treatment of Hemophilia

Persons with Hemophilia and their family will require genetic counseling under the expert guidance of a Hematologist.