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Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly.

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?

Hemophilia A and Hemophilia B

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.

Approximately 1 in 5,000 males is born with Hemophilia A, and 1 in 30,000 males is


born with Hemophilia B. Hemophilia affects people of all races and ethnic origins
globally. The conditions are both X-linked and virtually all sufferers of hemophilia are
males. Female carriers may also bleed abnormally, because some have low levels of the
relevant clotting factor.

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

What Causes Hemophilia / Haemophilia?


People 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.

To understand how hemophilia is inherited, it is important to learn about chromosomes.

What are chromosomes?


Chromosomes are blocks of DNA (deoxyribonucleic acid). They contain very detailed
and specific instructions that determine:

• How the cells in a baby's body develop.


• What features the baby will have, including, for example, hair and eye color.
• Whether the baby is male or female.

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

All humans have a pair of sex chromosomes:

• Males have an X + Y pair


• Females have an X + X pair

NB Females do not have any Y chromosomes.


What chromosomes do we inherit from our parents?
• A Male inherits his
o X chromosome from his mother
o Y chromosome from his father

• 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.

How can we calculate the risk of hemophilia in offspring?

(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).

• There is a 50% chance that sons will develop hemophilia because:

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 he will inherit his mother's "good" X chromosome,


plus his father's Y chromosome - he will not have hemophilia.

• There is a 50% chance that daughters will be carriers, (but no chance of


developing hemophilia), because:

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

What Are the Signs and Symptoms of Hemophilia?


The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.

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).

Signs of excessive external bleeding include:

• 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 Joints

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.

Swelling continues as bleeding continues. Eventually, movement in the joint is


temporarily lost. Pain can be severe. Joint bleeding that isn't quickly treated can
permanently damage the joint.

Bleeding in the Brain


Internal bleeding in the brain is a very serious complication of hemophilia that can
happen after a simple bump on the head or a more serious injury. The signs and
symptoms of bleeding in the brain include:

• Long-lasting, painful headaches or neck pain or stiffness


• Repeated vomiting
• Sleepiness or changes in behavior
• Sudden weakness or clumsiness of the arms or legs or problems walking
• Double vision
• Convulsions or seizures

http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_signs.html

• Child Behavior: Home Testing


o ADHD -- Home Test Kits
o Concentration -- Home Testing
• Child General Health: Home Testing
o Asthma-Related Home Tests
o Home Allergy Tests
o Home Cold & Flu Tests
o Home Diabetes Tests
o Home Drug Tests
o Sleep Apnea Tests
o Home Strep A Tests
o Home Hearing Tests
o Home Ear Infection Tests
• Fatigue: Related Home Tests:
o Home Anemia Tests
o Home Thyroid Gland Function Tests
o Home Adrenal Gland Function Tests
o Home Calcium Deficiency Tests
o Sleep Apnea Testing
o Home HIV Tests
• Home Anemia Diagnostic Tests
• Cold & Flu: Home Testing:
o Home Fever Tests
o Home Ear Infection Test Kits
o Home Flu Tests

Diagnostic tests mentioned in various sources as used in the diagnosis of Hemophilia


include:
• Blood coagulation tests
• Genetic tests

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