Transcript Child with hematological dysfunction

Child with hematological
dysfunction
Emad Al Khatib, RN,MSN,CNS
Hemophilia
• There are several X-linked (or sex-linked)
recessive genetic disorders, (hemophilia,
muscular dystrophy) which are inherited
through a genetic defect on an X
chromosome. A female has 2 X
chromosomes, one she inherited from her
mother and one she got from her father.
• A male has an X chromosome from his
mother and a Y chromosome from his
father. If a woman has the defect on one
of her X chromosomes, and the father's X
chromosome is normal, there is a 25%
chance for each pregnancy to produce: an
unaffected girl; a girl who carries the
defect; an unaffected boy; or a boy with
the disorder.
• Hemophilia is a disease where the blood
clots. The disease is a sex-linked disorder
and the genes for hemophilia are found on
the X chromosome. The X chromosome
carries the gene for Hemophilia, which is
passed to the child. Women are usually
carriers while men are usually the ones
diagnosed with the disease.
Overview, Causes, & Risk Factors
• Hemophilia is a hereditary bleeding
disorder of specific blood clotting factors.
There are several types of hemophilia,
including hemophilia A and B. Hemophilia
A is 7 times more common than
hemophilia B. Hemophilia B is the result of
a deficiency of clotting factor IX.
• The disorder is caused by an inherited
sex-linked recessive trait with the defective
gene located on the X chromosome.
Females carry two copies of the X
chromosome, so if the factor IX gene on
one chromosome is defective, the other
can compensate. Males, however, carry
only one X chromosome, so if the factor IX
gene on that chromosome is defective,
they have the disease.
• Females with one defective factor IX gene
are carriers of this trait. Fifty percent of the
male offspring of female carriers will have
the disease, and 50% of their female
offspring will be carriers. All female
children of a male hemophiliac will be
carriers of the trait.
• The severity of symptoms can vary with
this disease, and the severe forms
become apparent early on.
• Bleeding is the mark of the disease and
sometimes, though not always, occurs if
an infant is circumcised. Additional
bleeding manifestations make their
appearance when the infant becomes
mobile.
• Mild cases may go unnoticed until later in
life, when they occur in response to
surgery or trauma. Internal bleeding may
occur anywhere and bleeding into joints is
common. Risk factors are a family history
of bleeding and being male. Hemophilia B
occurs in about 1 out of 32,000 men.
Symptoms & Signs
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Nosebleeds
Bruising
Spontaneous bleeding
Bleeding into joints and associated pain and
swelling
Gastrointestinal tract and urinary tract
hemorrhage
Blood in the urine or stool
Prolonged bleeding from cuts, tooth extraction,
and surgery
Excessive bleeding following circumcision
Prevention
• Genetic counseling may be advised.
Female carriers can be identified by
testing.
Diagnosis & Tests
• Coagulation studies involving many tests
are performed if the person tested is the
first one in the family to have a bleeding
disorder. Once the defect has been
identified, other family members will need
less testing to diagnose the disorder.
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PTT is prolonged.
Prothrombin time is normal.
Bleeding time is normal.
Fibrinogen level is normal.
Serum factor IX is reduced
Treatment
• Standard treatment is infusion of factor IX
concentrates to replace the defective
clotting factor. The amount infused
depends upon the severity of bleeding, the
site of the bleeding, and the size of the
patient.
• Hepatitis B vaccine is recommended for
individuals with Hemophilia B because
they are at increased risk of developing
hepatitis due to exposure to blood
products.
• To prevent a bleeding crisis, people with
hemophilia and their families can be
taught to administer factor IX concentrates
at home at the first signs of bleeding.
People with severe forms of the disease
may need regular prophylactic infusions.
• Depending on the severity of the disease,
factor IX concentrate may be given prior to
dental extractions and surgery to prevent
bleeding.
Complications
• Chronic joint deformities, caused by
recurrent bleeding into the joint, may be
managed by an orthopedic specialist.
• Recurrent transfusions may expose the
individual to HIV and hepatitis, especially
prior to 1985 when blood screening
procedures were improved for detecting
the HIV virus.
Iron deficiency anemia
• Definition:
• Iron deficiency anemia is a decrease in the
number of red blood cells, caused by a
lack of sufficient iron.
Causes, incidence, and risk factors
• Iron deficiency anemia is the most
common form of anemia .
• Iron is an essential component of
hemoglobin , the oxygen-carrying
protein in blood.
• Iron is normally obtained in the diet and by
the recycling of iron from old red blood
cells.
• Babies are born with about 500mg of iron
in their bodies. By the time they reach
adulthood they need to have accumulated
about 5000mg.
• Children need to absorb an average of
1mg per day of iron to keep up with the
needs of their growing bodies. Since
children only absorb about 10% of the iron
they eat, most children need to ingest 810mg of iron per day. Breast-fed babies
need less, because iron is absorbed 3
times better when it is in breast milk.
• An iron deficient diet is a common cause
of iron deficiency. Drinking too much cow's
milk is a classic cause of iron deficiency in
young children, because cow’s milk does
not contain iron and inhibits absorption of
iron. Iron deficiency may also result from
blood loss in stool from a problem in the
intestines.
• An iron deficient diet is a common cause
of iron deficiency. Drinking too much cow's
milk is a classic cause of iron deficiency in
young children, because cow’s milk does
not contain iron and inhibits absorption of
iron. Iron deficiency may also result from
blood loss in stool from a problem in the
intestines.