Hemophilia Essay
By: HEATHER KOBILNYK, ANA NOTTINGHAM, NICOLE DRIVER, AND CARMEN
LI 7-6
Hemophilia is a genetic disorder that causes excessive bleeding. A
genetic disorder is a disease that is inherited genetically by your family
or is a disease that is caused by a mutation or change in a person’s DNA.
Hemophilia causes you to bleed excessively and slows blood clotting.
There are 2 major types of hemophilia, Hemophilia A and Hemophilia B.
They are very similar but the only difference is the mutation in the
genes. To identify hemophilia doctors look for excessive bleeding on
small cuts or bruises. Nosebleeds are also common and take a long time
to stop. The main cause of hemophilia would be that a member of your
family has hemophilia or is a carrier, since hemophilia is an inherited
disease. Similar disorders can include cancer such as leukemia, which
makes the body produce too many blood cells, mostly white blood cells.
Another disorder would be Von Willebrand’s disease, which is a type of
hemophilia in dogs, causing the slowing of blood clotting. The genetic
cause of hemophilia is caused by the changes in the F8 gene and the F9
gene. The F8 gene makes the instructions for making a protein, while
the F9 makes a similar but different protein. Mutations in these genes in
the F8 gene and the F9 gene can cause an altered or missing protein.
This can cause result in the clotting not forming properly leading to
excessive bleeding. To determine how to get hemophilia A, you would
need a change in the F8 gene, but for hemophilia B it would be a change
in the F9 gene. Both hemophilia types are of an x linked recessive
pattern, meaning that both genes are located on the X chromosome. In
males and in females it is more likely that males would have hemophilia
than females. Considering that for hemophilia in males, when one gene
is changed or mutated in the X chromosome it can cause hemophilia.
While in females who have two copies of the x chromosomes would
need to have 2 x chromosomes altered which is really rare. Even if one
copy of the x chromosomes was altered, the other copy would dominant
it and would not show, although the female would be a carrier of the
trait. To check if your child has hemophilia you can run some test which
can include Ultrasound, Chorionic Villus Sampling, Amniocentesis,
Foetal Blood Sampling and more. Once when the parents learn that it’s a
boy and there is a carrier in the family, they would have them tested. In
young children they check for hemophilia with blood tests measuring
the Factor VII or the F8 and the Factor IX, or F9 in their blood. For both
hemophilia A and B the amounts would be low of these blood cells.
Some statistics of hemophilia can include that 1 out of every 100,000
males has hemophilia A. 80 percent of the causes can be traced back to
your family history of having it and the other 20 percent would just be a
mutation in the genes. There have been estimates of 200,000 people
who have hemophilia and adding to that would be that each year 400
babies are born with hemophilia in the United States. 1,681 deaths per
year are caused by hemophilia. Hemophilia is more likely to affect males
more than females due to their one copy of the X chromosome. Females
have 2 copies which both need to be affected to cause hemophilia while
males only need one to get hemophilia. Hemophilia which is an x linked
disorder is caused by F8, or factor 8, having its activity decrease. Around
1 in 5,000 males may have more than one carrier in their family. So far
for hemophilia there have been 1,000 mutations and the numbers are
still increasing. Hemophilia can be treated by a therapy known as
replacement therapy. This treatment gives or replaces the clotting
factor that has been missing or very low. Concentrates of the treatment
is then slowly dripped and put into their veins. Both working for
hemophilia A and B it will thicken the blood, causing it to clot better
than before.