Transcript Hemophilia - Humble ISD

Hemophilia
Sarah Moreno
Ms.Brown
Child dev. -6
Definition
• Hemophilia is a rare bleeding disorder that prevents
the blood from clotting properly, so a person who has
it bleeds more than someone without hemophilia
does. It's a genetic disorder, which means it's the result
of a change in genes that was either inherited (passed
on from parent to child) or occurred during
development in the womb.
• Hemophilia A and B are both caused by a genetic
defect present on the X chromosome. (Hemophilia C is
inherited in a different fashion.) About 70 percent of all
people with hemophilia A or B inherited the disease.
The other 30 percent develop from a spontaneous
genetic mutation.
What is the difference between
hemophilia A and hemophilia B?
• The most common type of hemophilia is called
hemophilia A. This means the person does not
have enough clotting factor eight.
• A less common type is hemophilia B. This person
does not have enough clotting factor nine.
• The result is the same for people with hemophilia
A and B they both bleed for a longer time than
normal.
• It is MOST common in males type A- 1 in 4,000
type B- 1 in 40,000
What happens to us?
• When cut, the body naturally protects itself. Sticky blood cells
called platelets go to where the bleeding is and plug up the
hole. This is the first step in the clotting process. When the
platelets plug the hole, they release chemicals that attract
more sticky platelets and also activate various proteins in the
blood known as clotting factors. These proteins mix with the
platelets to form fibers, and these fibers make the clot
stronger and stop the bleeding.
What happens to them?
• In hemophilia, blood does not clot properly. After
bleeding starts, it takes longer for bleeding to stop
than in a person who has blood that clots normally. A
bleeding episode often begins with an injury. Minor
injuries may not always cause excessive bleeding.
More severe injuries, or injuries in the mouth, more
often cause excessive bleeding and frequently
require emergency care.
What causes the genetic disorder?
• Hemophilia A and hemophilia B are inherited in an Xlinked recessive pattern. The genes associated with
these conditions are located on the X chromosome,
which is one of the two sex chromosomes. In males
(who have only one X chromosome), one altered copy
of the gene in each cell is sufficient to cause the
condition. In females (who have two X chromosomes), a
mutation would have to occur in both copies of the
gene to cause the disorder. Because it is unlikely that
females will have two altered copies of this gene, it is
very rare for females to have hemophilia. A
characteristic of X-linked inheritance is that fathers
cannot pass X-linked traits to their sons.
• Hemophilia is a recessive disorder.
• Various diagnostic tests are available to
measure, under carefully controlled
conditions, the length of time it takes to
produce certain components of the final fibrin
clot. The activated partial thromboplastin time
(APTT) is performed and will typically be
prolonged while a prothrombin time (PT) will
likely be normal.
Signs and Symptoms
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Common symptoms
Many large or deep bruises
Joint pain and swelling caused by internal bleeding
Unexplained and excessive bleeding or bruising
Blood in your urine or stool
Prolonged bleeding from cuts or injuries or after surgery or tooth extraction
Nosebleeds without a known cause
Tightness in your joints
In infants, unexplained irritability
Unusual bleeding after immunizations
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Emergency signs
Sudden pain, swelling, and warmth of large joints, such as knees, elbows, hips and shoulders, and of the
muscles of your arms and legs
Bleeding from an injury, especially if you have a severe form of hemophilia
Painful, lasting headache
Repeated vomiting
Extreme fatigue
Neck pain
Double vision
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• The only way to detect hemophilia is through a blood test
to measure the clotting factor level. If hemophilia is known
to run in a family, newborn babies should be tested.
• You can test for hemophilia A and B when a baby is born.
The blood can be drawn from the umbilical cord. However,
the factor IX level in a newborn baby is lower than it will be
later in life. Repeating the test at 6 to 12 months of age can
show the factor IX level a person can expect to have the
rest of his life.
• At the birth of a baby who may have hemophilia A, it is
possible to test for the disorder using blood from the
umbilical cord. You have to wait to test for hemophilia B.
The hemophilia B test may not be accurate until the baby is
six months old.
Treatment
• Hemophilia treatment varies depending on the severity of the
condition:
• Mild hemophilia A. Treatment may involve slow injection of the
hormone desmopressin (DDAVP) into a vein to stimulate a release
of more clotting factor to stop bleeding. Occasionally, desmopressin
is given as a nasal medication.
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Moderate to severe hemophilia A or hemophilia B. Bleeding may
stop only after an infusion of clotting factor derived from donated
human blood or from genetically engineered products called
recombinant clotting factors. Repeated infusions may be needed if
internal bleeding is serious.
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Hemophilia C. The clotting factor missing in this type of
hemophilia (factor XI) is available only in Europe. In the U.S., plasma
infusions are needed to stop bleeding episodes.
COUNSELING
• People with hemophilia may feel they need
help understanding genetics and the impact a
genetic disorder like hemophilia can have on
life. That's where genetic counselors can be so
valuable. Many couples concerned about
hemophilia get counseling prior to starting a
family.
Is hemophilia lifelong?
• A person born with hemophilia will have it for
life. The level of factor 8 or factor 9 in the
blood usually stays the same throughout the
person’s life.
• While there's no cure for hemophilia, most
people with the disease can lead fairly normal
lives.