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Currently, about 17,000 people in the United States have hemophilia. About 1 in every
5,000 boys is born with hemophilia; girls are more rarely affected by this genetic
condition linked to gender. A male can't pass the gene for hemophilia to his sons, though
all his daughters will be carriers of the disease gene. Each male child of a female carrier
has a 50% chance of having hemophilia.
What Is Hemophilia?
Human blood contains special proteins, known as clotting factors. Identified by Roman
numerals, clotting factors help stop bleeding and allow a blood vessel to heal after an
injury. The last step in the clotting process (also called coagulation) is the creation of a
"net" that closes the torn blood vessel and stops the bleeding. This part of the process
involves clotting factors VIII and IX. People with hemophilia are deficient in one of
those factors due to their abnormal genes and, as a result, their blood can't clot properly.
http://kidshealth.org/parent/medical/heart/hemophilia.html#a_What%20Is
%20Hemophilia?
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.
After repeated bleeding episodes permanent damage may be caused to the joints and
muscles that have been affected, particularly the ankles, knees and elbows.
People with hemophilia have a genetic mutation in the affected gene on the X
chromosome, which results in reduced production of Factor VIII or IX and creates a
bleeding tendency, because coagulation takes much longer than normal, thus making the
clot weak and unstable
Approximately one third of patients with hemophilia have no family history of the
disease, either because of new genetic mutations, or because previous affected
generations either had daughters (who were carriers) or sons who died in early childhood
from hemophilia or any other cause or who were not affected.
Acquired hemophilia
This is very rare. The patient develops the condition during his/her lifetime and it does
not have a genetic or heritable cause. It occurs when the body forms antibodies that attack
one or more blood clotting factors, (usually factor VIII), thus preventing the blood
clotting mechanism from working properly. Patients may be male or female and the
pattern of bleeding is rather different from that of classical hemophilia, the joints being
rarely affected. The disorder is particularly associated with old age and occasionally
complicates pregnancy.
http://www.medicalnewstoday.com/info/hemophilia/types-of-hemophilia.php
In humans there are 23 pairs of chromosomes, including the sex chromosome pair.
There are two types of sex chromosome:
• The X chromosome
• The Y chromosome
• A Female inherits
o One X chromosome from her mother
o One X chromosome from her father
She does not inherit both X chromosomes from her mother. She has no Y
chromosomes.
(Before reading on, remember that the faulty gene is never on the Y chromosome. If
it is present, it will be on the X chromosome.)
• Female (X + Xfaulty) is a carrier, but does not have hemophilia. The “good” X
chromosome allows the production of enough clotting factor to prevent serious
bleeding problems.
• Male (Y + Xfaulty) will develop hemophilia and can pass it on.
If the father has hemophilia and the mother has no faulty gene (is not a carrier):
Father (Y + Xfaulty). Mother (X + X).
• There is no risk of inherited hemophilia in their sons because boys will inherit
their X chromosome from the mother, not the father (they inherit the father's Y
chromosome only, which does not have the faulty gene).
• All the daughters will be carriers but will not develop hemophilia although they
will inherit the father's X chromosome, which has the faulty gene. However, their
maternal X chromosome, which does not have the faulty gene, usually allows the
production of enough clotting factor to prevent serious bleeding problems.
If the father does not have hemophilia and the mother has a faulty gene:
Father (Y + X). Mother (X + Xfaulty).
o There is a 50% risk that a son will inherit his mother's Xfaulty chromosome,
plus his father's Y chromosome - he will have hemophilia.
o There is a 50% chance she will inherit her mother's Xfaulty chromosome,
making her a carrier.
• There is a 50% chance she will inherit her mother's "good" X chromosome, which
would mean she would not be a carrier.
Approximately one third of patients with hemophilia have no family history of the
disease, either because of new genetic mutations, or because previous affected
generations either had daughters (who were carriers) or sons who died in early childhood
from hemophilia or any other cause or who were not affected
http://www.medicalnewstoday.com/info/hemophilia/causes-of-hemophilia.php
Excessive Bleeding
The extent of bleeding depends on the type and severity of the hemophilia. Children who
have mild hemophilia may not have symptoms unless they have excessive bleeding from
a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed
heavily after circumcision.
Bleeding can occur on the body's surface (external bleeding) or inside the body (internal
bleeding).
• Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
• Nosebleeds for no obvious reason
• Heavy bleeding from a minor cut
• Bleeding from a cut that resumes after stopping for a short time
Signs of internal bleeding include blood in the urine (from bleeding in the kidneys or
bladder) and blood in the stool (from bleeding in the intestines or stomach).
Bleeding in the knees, elbows, or other joints is another common form of internal
bleeding in people who have hemophilia. This bleeding can occur without obvious injury.
At first, the bleeding causes tightness in the joint with no real pain or any visible signs of
bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_signs.html
http://www.wrongdiagnosis.com/h/hemophilia/home-testing.htm
he list of treatments mentioned in various sources for Hemophilia includes the following
list. Always seek professional medical advice about any treatment or change in treatment
plans.
• Transfusions
• Home intravenous transfusions
• Transfusion treatment strategies
o On-demand infusion - the traditional use of infusion only when there are
bleeding symptoms.
o Periodic infusion (prophylaxis) - a preventive ongoing method that
reduces complications but is costly and more involved.
• Clotting factor therapy - the use of replacements for the missing blood products
by transfusion of concentrated clotting factors from blood donor.s
o Factor VIII concentrates
o Factor IX concentrates
• Special treatment required prior to surgery
• Special treatment required prior to dental procedures
• Special treatment required for any injury
http://www.wrongdiagnosis.com/h/hemophilia/treatments.htm