2 when a girl inherits a mutated gene from either her

2. When a girl inherits a mutated gene from either her father or mother, she
becomes a carrier of hemophilia and can pass the disease to her sons.
c. A and P Review
i. Blood Clots
1. When an injury causes a blood vessel wall to break, platelets are
activated. They change shape from round to spiny, stick to the broken
vessel wall and each other, and begin to plug the break. They also
interact with other blood proteins to form fibrin. Fibrin strands form a net
that entraps more platelets and blood cells, producing a clot that plugs
the break
d. Pathophysiology
i. Factor VIII deficiency
1. Necessary for thromboplastin formation in phase one of coagulation
ii. Effect is prolonged bleeding
1. SQ and IM hemorrhages
2. Hemarthrosis bleeding
a. Into the joints
3. Anemias
4. GI bleeding
5. Intracranial hemorrhage
e. Diagnosis of Bleeding Disorders
i. Medical and familial history?
f. Diagnosis
i. Circumcision
ii. Toddler years
iii. History of bleeding
iv. Blood test PT/PTT bleeding time
v. Fibrinogen level
vi. Platelet count
vii. Factor VIII and IX assays
viii. DNA testing for carrier status
g. Classification of Hemophilia
i. Classified as:
1. Mild
2. Moderate
3. Severe

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ii. Average clotting activity level 100%
1. Normal range 60-100%
iii. Every patient should know their clotting factor activity level
iv. Degree of severity tends to be consistent within a given family
v. The severity of hemophilia depends on the specific mutation in the Factor gene.
If the mutation is small, like a one letter change in the gene, then the mutation is
small. If the mutation is larger, like a backward chunk, the symptoms are usually
severe.
Classes Severe Moderate Mild
Factor Level <1% 1-3% factor 6-25% factor
Tendency to bleed Can bleed without
injury
Can bleed with slight
injury
Bleeds with severe
injury, surgery, invasive
procedures
Joints Usually had join
involvement
May have joint
involvement
Rarely has joint
involvement
X/wk May bleed 1-2 x/week May bleed 1 x/month May never have a
bleeding problem
h. Complications
i. Hematomas
ii. Bleeding from circumcision
iii. Minor trauma—large intramuscular hematoma
iv. Hemarthosis-hallmark sign
v. Intracranial hemorrhages
vi. Bleeding in neck area
vii. Spontaneous hematuria
viii. Hematomas along spinal cord
ix. AIDS
x. Hepatitis
i. Bleeding into Joints
i. What should you do immediately in the patient with hemophilia? Why?
j. Development of Arthritis

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i.
k. Emergency Treatment
i. Never make a hemophilia patient wait to be treated.
1. The longer he/she waits, the longer he/she will continue to bleed.
2. Early treatment can prevent complications, pain and death.
ii. Bleeding can cause
1. Irreversible complications
2. Pain
3. Death
iii. Listen to the patient and /or his family
1. Their information can be valuable
iv. Important
1. Never give IM injections except with pretreatment
2. Never apply heat to a bleeding area
3. Never perform invasive procedures without pretreatment of clotting
factor
4. Avoid arterial punctures
v. Therapeutic Management
1. Apply pressure for 10-15 minutes
2. Immobilize
3. Elevate
4. Apply cold
5. Factor administration
a.