HEMOPHILIA

• Hemophilia is usually an inherited bleeding disorder in

which the blood does not clot properly. This can lead to
spontaneous bleeding as well as bleeding following
injuries or surgery.
• People with hemophilia have low levels of either factor
VIII (8) or factor IX (9). The severity of hemophilia that a
person has is determined by the amount of factor in the
blood. The lower the amount of the factor, the more likely
it is that bleeding will occur which can lead to serious
health problems.
Types
• Hemophilia A (Classic Hemophilia)
This type is caused by a lack or decrease of clotting factor
VIII.
• Hemophilia B (Christmas Disease)
This type is caused by a lack or decrease of clotting factor
IX.
Causes
• Hemophilia is caused by a mutation or change, in one of
the genes, that provides instructions for making the
clotting factor proteins needed to form a blood clot. This
change or mutation can prevent the clotting protein from
working properly or to be missing altogether. These genes
are located on the X chromosome.
Risk Factor
• The biggest risk factor for hemophilia is to have family
members who also have the disorder.
Clinical Manifestation
• Bleeding into the joints. This can cause swelling and pain
or tightness in the joints; it often affects the knees,
elbows, and ankles.
• Bleeding into the skin (which is bruising) or muscle and
soft tissue causing a build-up of blood in the area (called
a hematoma).
• Bleeding of the mouth and gums, and bleeding that is
hard to stop after losing a tooth.
• Bleeding after circumcision (surgery performed on male
babies to remove the hood of skin, called the foreskin,
covering the head of the penis).
• Bleeding after having shots, such as vaccinations.
• Bleeding in the head of an infant after a difficult delivery.
• Blood in the urine or stool.
• Frequent and hard-to-stop nosebleeds.
Complications
• Deep internal bleeding
• Damage to joints
• Infection
• Adverse reaction to clotting factor treatment
Diagnosis
• To make a diagnosis, doctors would perform certain blood
tests to show if the blood is clotting properly. If it does not,
then they would do clotting factor tests, also called factor
assays, to diagnose the cause of the bleeding disorder.
These blood tests would show the type of hemophilia and
the severity.
Treatment
• Several different types of clotting factors are associated
with different varieties of hemophilia. The main treatment
for severe hemophilia involves receiving replacement of
the specific clotting factor that you need through a tube
placed in a vein.

• This replacement therapy can be given to combat a

bleeding episode that's in progress. It can also be
administered on a regular schedule at home to help
prevent bleeding episodes. Some people receive
continuous replacement therapy.
Other therapies may include:
• Desmopressin. In some forms of mild hemophilia, this
hormone can stimulate your body to release more clotting
factor. It can be injected slowly into a vein or provided as
a nasal spray.
• Clot-preserving medications. These medications help
prevent clots from breaking down.
• Fibrin sealants. These medications can be applied directly
to wound sites to promote clotting and healing. Fibrin
sealants are especially useful in dental therapy.
• Physical therapy. It can ease signs and symptoms if internal
bleeding has damaged your joints. If internal bleeding has caused
severe damage, you may need surgery.
• First aid for minor cuts. Using pressure and a bandage will
generally take care of the bleeding. For small areas of bleeding
beneath the skin, use an ice pack. Ice pops can be used to slow
down minor bleeding in the mouth.
• Vaccinations. Although blood products are screened, it's still
possible for people who rely on them to contract diseases. If you
have hemophilia, consider receiving immunization against
hepatitis A and B.
POLYCYTHEMIA
• Refers to an increased volume of RBCs.
• The term is used when the hematocrit is elevated (more
than 55% in males, more than 50% in females)
• Polycythemia is classified as either primary or secondary.
• Primary polycythemia, also called polycythemia vera
Polycythemia Vera
• is a type of blood cancer. It causes your bone marrow to
make too many red blood cells. These excess cells
thicken your blood, slowing its flow, which may cause
serious problems, such as blood clots.
• Polycythemia vera is rare. It usually develops slowly, and
you might have it for years without knowing. Often the
condition is found during a blood test done for another
reason.
• Without treatment, polycythemia vera can be life-
threatening. But proper medical care can help ease signs,
symptoms and complications of this disease.
Causes
• Polycythemia vera occurs when a mutation in a gene
causes a problem with blood cell production. Normally,
your body regulates the number of each of the three types
of blood cells you have — red blood cells, white blood
cells and platelets. But in polycythemia vera, your bone
marrow makes too many of some of these blood cells.

• The cause of the gene mutation in polycythemia vera is

unknown, but it's generally not inherited from your
parents.
Risk Factors
• Polycythemia vera can occur at any age, but it's more
common in adults between 50 and 75. Men are more
likely to get polycythemia vera, but women tend to get the
disease at younger ages.
Clinical Manifestation
• Patients typically have a ruddy complexion and
splenomegaly.
• Symptoms result from increased blood volume and may
include headache, dizziness, tinnitus, fatigue,
paresthesias, and blurred vision.
• Symptoms also result from increased blood viscosity and
may include angina, claudication, dyspnea, and
thrombophlebitis, particularly if the patient has
atherosclerotic blood vessels.
• Elevated blood pressure
• Generalized pruritus
• Erythromelalgia, a burning sensation in the fingers and
toes
Complications
• Blood clots
• Enlarged spleen
• Problems due to high levels of red blood cells.
• Other blood disorders
Diagnosis

1. Blood tests
If you have polycythemia vera, blood tests might reveal:

• More red blood cells than normal and, sometimes, an

increase in platelets or white blood cells
• A greater percentage of red blood cells that make up total
blood volume (hematocrit measurement)
• Elevated levels of the iron-rich protein in red blood cells
that carries oxygen (hemoglobin)
2. Bone marrow aspiration or biopsy
3. Specific gene testing
If you have polycythemia vera, analysis of your bone
marrow or blood might show the gene mutation that's
associated with the disease.
Treatment
• There's no cure for polycythemia vera. Treatment focuses
on reducing your risk of complications. These treatments
may also ease your symptoms.
1. Blood withdrawals
The most common treatment for polychythemia vera is
having frequent blood withdrawals, using a needle in a vein
(phlebotomy). It's the same procedure used for donating
blood.

This decreases your blood volume and reduces the number

of excess blood cells. How often you need to have blood
drawn depends on the severity of your condition.
2. Treatments to reduce itching

Doctor’s may prescribe medication, such as antihistamines,

or recommend ultraviolet light treatment to relieve
discomfort.
3. Drugs that reduce the number of red blood cells
If phlebotomy alone doesn't help enough, your doctor may
suggest medications that can reduce the number of red
blood cells in your bloodstream. Examples include:

Hydroxyruea (Droxia, Hydrea)

Interferon alfa-2b (Intron A)
Ruxolitinib (Jakafi)
Busulfan (Busulfex, Myleran)
4. Heart medications

The doctor will also likely prescribe medications to control

risk factors for heart and blood vessel disease, including
high blood pressure, diabetes and abnormal cholesterol.

The doctor may recommend that you take a low dose of

aspirin to reduce your risk of blood clots. Low-dose aspirin
may also help reduce burning pain in your feet or hands.
Secondary Polycythemia
• It is caused by excessive production of erythropoietin.
• This may occur in response to a reduced amount of
oxygen, which acts as a hypoxic stimulus, as in heavy
cigarette smoking, obstructive sleep apnea (OSA),
chronic obstructive pulmonary disease (COPD), or
cyanotic heart disease, or with conditions such as living at
a high altitude or exposure to low levels of carbon
monoxide.
Medical Management
• When secondary polycythemia is mild, treatment may not
be necessary; when treatment is necessary, it involves
treating the primary condition.
• If the cause cannot be corrected (e.g., by treating the
OSA or improving pulmonary function with smoking
cessation), therapeutic phlebotomy maybe necessary in
symptomatic patients to reduce blood viscosity and
volumeas well as when the hematocrit is significantly
elevated
Case Study
You are caring for an 11-month-old male who has been
admitted through the emergency Department in order to
treat a hemarthrosis of the elbow and confirm a diagnosis of
hemophilia.

1.What are the most pertinent questions you will ask his
parents in your admission history?
2.What will be your priority nursing actions to the child’s
physical comfort?
3.What diagnostics and medical interventions would you
anticipate to be ordered by the physician?
1. What are the most pertinent questions you will ask
his parents in your admission history?
• a family history of hemophilia
• family history of excessive bleeding after trauma or after
surgery or known bleeding disorders in the family.
• deficiency of clotting factors in the blood
2. What will be your priority nursing actions to the
child’s physical comfort?
• ASA and NSAIDs should be avoided, and milder opioids
or acetaminophen are options for pain control
• Splints or other orthopedic devices
• Rest, ice application, compression, and elevation
3. What diagnostics and medical interventions would
you anticipate to be ordered by the physician?
• Blood test
• requires quick recognition of the location and severity of
the bleed through imaging studies; this must be followed
by immediate replacement with high-dose clotting factor
concentrate (CFC) with factor VIII or IX.
• Pain management (Acetaminophen and certain COX-2
inhibitors are safe to use)
• Prophylactic treatment