Fist we need to
know what hemophilia is. It is a disorder that causes blood to not
clot normally. It can also be said that it is a bleeding disorder where blood
clotting is altered. This pathology
implies the lack or deficiency of coagulation factors, elements that, together with
platelets, are responsible for plugging the lesion of blood vessels and
reducing blending.
But what happens when the blood does not clot
properly? When the blood does not clot properly,
the patient can have excessive bleeding in internal or external wounds, the
reason why people who suffer from this disease must be very careful with being
hit or cut, since the patient could have bleedings, both external or internal.
This disease
requires medical diagnosis and some symptoms include several large or deep
bruises, inflammation and joint pain, unexplained bleeding and blood in the
urine or feces.
But what is the cause of this disease?
Everyone can
have hemophilia but it mainly affects men, women who carry the mutation rarely
develop the disease and if this occurs, it is rather mildly.
People who have
hereditary hemophilia are born with the disorder. Hemophilia is due to an alteration in one of
the genes that determine the way in which the body produces clotting factor
VIII or IX. These genes are located on
the X chromosomes.
The chromosomes are arranged in pairs. Women have two X chromosomes, while men have
an X chromosome and a Y chromosome. Only the X chromosome contains genes
related to clotting factors.
A male who has a defective hemophilia gene on
the X chromosome will suffer hemophilia.
A woman must have the defective gene on both X chromosomes to have
hemophilia. Which leads us to conclude that this disease is hereditary.
There
are two types of hemophilia, A (classical hemophilia, or factor VIII
deficiency) and B (Christmas disease, or factor IX deficiency).
Hemophilia is a
disease that has no cure but with several treatments it has improvement. Treatment consists of medications that
improve coagulation with injections of a coagulation factor or plasma.
In Colombia
there are 2,170 people diagnosed with hemophilia, the treatment of a patient
with hemophilia type a can cost 37 million pesos in a year but the treatment of
a patient with hemophilia type B can cost 280 million pesos in a year.
Many people who
suffer from hemophilia has pain because
of the complications of the disease,
it can occur in a timely manner because of muscle and joint bleeds and pain can
also occur all the time, bringing disability and decreased quality of life, which are the
long-term effects that overwhelm the patient with hemophilia.
Also patients
can ease the pain of this disease by preventing bleeding by taking care of a
healthy diet, rest, and exercise.
By María José Durán, Step 9
