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The Hemophilias

 Hemophilia is a blood disorder that prevents blood from clotting properly,


leading to uncontrolled bleeding.
 It is actually a collection of several different genetic disorders passed on by
heredity.
 The two most common types are hemophilia A and hemophilia B.
 Hemophilia usually affects males.

Heredity and Hemophilia

 The Hemophilias are genetic disorders caused by mutations to a single


recessive gene on the X chromosome. Women with these types of genetic
disorders rarely develop hemophilia, but can pass the disorders on to their
sons.
 Since hemophilia is an X-linked disease, the hereditary nature of the disease
is a complicated issue.
 Further, a wide variety of genetic disorders cause hemophilia, and many
mutations are only found in specific heredity groups.

Types of Hemophilia

 Two main varieties of hemophilia exist. Hemophilia A is responsible for eighty


percent of all cases.
 The genetic disorders responsible for hemophilia A result in low levels or
abnormal production of the clotting protein factor VIII (FVIII). Hemophilia B,
the second most common form of hemophilia, affects factor IX proteins (FIX)
and accounts for almost twenty percent of hemophilia cases.
 Other heredity-based hemophilia disorders may affect other blood clotting
factors, but they occur rarely.
 The most common of these rare disorders, hemophilia C.
 Hemophilia C affects factor XI proteins, and is unusual in that it affects both
males and females.

Genetics of Hemophilia: Defects in Clotting Factor Production

 Hemophilia is a genetic disease: mutations on the X chromosome result in low


levels of blood clotting factors VIII or IX.

 The mutations that cause low levels of clotting factor are carried recessively
on the X chromosome.

 As women have two X chromosomes (XX), the mutated gene would have to
be present on both chromosomes to cause the disease, and this is
exceedingly rare.

 Since men have only one X chromosome (XY), one copy of the mutated
hemophilia gene is enough to cause the disease, so males who inherit the
gene will be affected.
Hemophilia Causes Bruising and Mild to Severe Bleeding

 Hemophilia's main symptom is bleeding. Defects in blood coagulation factors


result in low levels of fibrin, which impairs the body's ability to create strong
blood clots.
 Extensive bleeding and easy bruising are common hemophilia symptoms.
 Contrary to popular belief, hemophilia does not make people bleed faster.
 Instead, bleeding lasts for longer than ordinary, due to the body's inability to
form a blood clot.

Hemophilia symptoms may include:


easy bruising
sudden bleeding
bleeding into joints and muscles
bleeding into the gastrointestinal tract
bleeding into the urinary tract
blood in stool
blood in urine
lengthy bleeding after trauma
lengthy bleeding after surgery or dental work
frequent nose bleeds
intracranial bleeding.
Levels of Hemophilia: Mild to Severe

 Hemophilia symptoms may be mild, moderate, or severe, depending on the


amount of clotting factors produced.
 Mild hemophilia occurs when clotting factor levels fall between six to thirty
percent of normal levels.
 People with moderate hemophilia have between one and five percent of
normal clotting factor levels. Severe hemophilia cases have extremely low
levels of clotting factors, amounting to less than one percent.
 Symptoms depend on the severity of hemophilia:

Mild Hemophilia: Symptoms may only be a concern when surgery or dental


work is required.

Moderate Hemophilia: Symptoms include easy bruising and bleeding.


Otherwise mild abrasions (brushing teeth, scratching an insect bite) may
cause bruising or bleeding.

Severe Hemophilia: Spontaneous joint bleeding can cause severe pain and
physical deformity as cartilage and surrounding bones are damaged. Further,
gastrointestinal, urinary tract, or intracranial bleeding can occur and require
immediate medical attention. Even mild physical trauma to the head may
result in intracranial bleeding, a very serious condition.

Physical Symptoms and Diagnosis

 Hemophilia symptoms are often not apparent at birth unless the disorder is
severe.
 Moderate hemophilia symptoms may not be noticed until a child starts to
crawl, when unusual bleeding and bruising become more apparent.
 A mild case of hemophilia may go unnoticed until dental work, surgery, or a
serious injury results in unusual bleeding.

PREVENTING POTENTIAL COMPLICATIONS OF HEMOPHILIA

 In addition to bleeding, people with hemophilia must be on the watch for a


number of health complications.
 Medications must be controlled carefully; taking aspirin, NSAIDs and other
blood-thinning drugs can lead to serious consequences.
 Dental hygiene must be carefully maintained.
 Finally, hemophilia patients who require transfusions of blood products are at
increased risk of contracting viruses from infected plasma, although this is
less of a problem today than it was in the past.