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.