Hemophila- a Blood clotting disorder

1. HEMOPHILIA
(A BLOOD CLOTTING DISORDER)
BY- RITU MANDHATA
PBBSc. NURSING
FIRST YEAR
GRMC GWALIOR

2. INTRODUCTION
Hemophilia is an inherited
disorder where one of the blood
clotting proteins is absent or present
in a reduced amount.
DEFINITION
Hemophilia is a genetically
transmitted blood clotting disorder,
caused by deficiency of coagulation
factor VIII (Anti hemophilic factor) or
factor IX (Christmas factor).

3. CLASSIFICATION
Hemophilia is classified into three groups based on the
deficient factors of coagulation.
1. Hemophilia-A(classical hemophilia)
2. Hemophilia-B(Christmas disease)
3. Hemophilia -C
1.Hemophilia-A (Classical Hemophilia): It occurs due to
deficiency of plasma factor VIII,the antihemophilic factor
(AHF).It accounts for about 80 to 85% of cases.

4. Hemophilia-A can be classified based upon the factor VIII level in
plasma . They are as follows-
Mild Hemophilia-A: Factor level is in between 6 to 30% of normal.
Patients lead normal lives and bleeding only occurs in severe injury
and surgical interventions.
Moderate Hemophilia-A: Factor level is remains 1 to 5% of
normal.Patients have no spontaneous bleeding and may not have
severe bleeding until any trauma occurs.
Severe Hemophilia-A: In this condition ,the factor level is found less
than 1% of normal value. Patients have tendency of spontaneous
bleeding and severe bleeding.

5. 2. Hemophilia-B(Christmas disease): It results from
deficiency of plasma factor IX, the plasma thromboplastin
component (PTC). It accounts for about 15 to 20% of cases.
3. Hemophilia-C: It results from deficiency of factor XI
plasma thromboplastin antecedent (PTA).It accounts for few
cases only.

6. TRANSMISSION OF DISEASE
 The genetic transmission of Hemophilia varies with types.Hemophilia
A and B are inherited as sex linked (X) recessive disorder.
 Hemophilia is more likely to occur in males than females, this is
because females have two X chromosomes while males have only one,
so the defective gene is guaranteed to manifest in any male who
carries it.
 Because females have two X chromosomes and hemophilia is rare ,the
chance of a female having two defective X chromosomes is rare.
 So females are almost always asymptomatic carriers of this disorder.
Female carriers can inherit the defective gene from either their
father or mother or it may be a mutation.

7. Hemophilia-C is an autosomal genetic disorder(not
X- linked) which can affect either sex

8. Flowchart- Normal Clotting Mechanism

9. CLINICAL FEATURES
The clinical features depends on severity of Hemophilia.
* Mild Hemophilia
. Frequent bruises
. Nose bleeds
. Bleeding gums
. Prolonged bleeding even after minor surgery like tooth extraction. Mild
Hemophilia may remain undiagnosed until adolescence or young adulthood.
*Moderate Hemophilia
. Frequent bleeding episodes
. Joint bleeding
Moderate Hemophilia is diagnosed during childhood.
*Severe Hemophilia
. Bleeding as early as on first day of life .
. Excess bleeding after injections or minor procedures like circumcision.

10. . Spontaneous bleeding into joint cavities (Hemarthrosis) like elbow,knee and
ankle joints.
. Subcutaneous and I/M hemorrhages
. Hematuria
. Intracranial hemorrhage (rare)
Severe Hemophilia in 90% cases is diagnosed by 3-4 years of age.

11.  History and clinical features
 Genetic history
 Laboratory test
 CBC (complete blood count)
 Platelet function test and clotting studies
 Hemophilia leads to prolonged partial thromboplastin time(PTT)
 Functional assay of coagulation factors in blood helps in the identification of
type and severity of Hemophilia.
DIAGNOSTIC EVALUATION

12. MANAGEMENT
The case of hemofilic child requires a team of physicians,nurses,
laboratory personal, social worker etc.
There is no cure for Hemophilia.Treatment is done to stop or prevent
bleeding. Treatment includes-
 Replacement preparation of factor VIII and IX are available in market in form
of plasma(250ml) provides 75-125 units of coagulation factor. Clotting factors
may be manmade or artificially prepared.
 Fresh Frozen Plasma (FFP)can also be used to correct factor deficiency. Each
ml of plasma contains 1 unit of factor VIII and slightly less than 1 unit of
factor IX.
 Demopressin this drug may be used to treat Hemophilia.It works by increasing
the amount of clotting factor VIII in child’s blood

13. NURSING MANAGEMENT
1.Prevention of bleeding-
 The child’s finger nails should be kept short to avoid scratching.
 Avoid using diaper pins in infants.
 Provide soft toys without sharp corners.
 Soft food should be given to the child to prevent gum bleeding.
 Child should not be restricted unnecessarily but contact sports should be
avoided.

14. 2.Control of bleeding-
First aid needs to be given during a bleeding episode. If these measures do not
stop bleeding, other treatments will be needed.
Following first aid measures may reduce the amount of bleeding.
 R-Rest- make the child liedown quietly until bleeding episode ends.
 I-Ice apply- apply ice packs on the bleeding area.
 C-Compression-apply pressure over the bleeding site.
 E-Elevate- position the child so that the bleeding area is raised. Raise the
area above the level of heart if possible.

15. 3. Administration of replacement therapy-
If the child needs frequent IV infusions of blood products like clotting factors
and if cannula cannot easily placed in a peripheral vein,then a central venous
line may be placed. These invasive IV lines if not handled with aseptic techniques
serve as site for entry of infections in the body.Nurses are responsible for care of
IV lines and for maintaining its patency so that replacement therapy can be
provided to the child without causing any complications to the child.

16. 4. Provide education and support to patient and family-
 After diagnosis of Hemophilia in child ,the parents feel depressed and guilty.
Nurses must educate the parents regarding the disease so that they become
capable of providing normal life to their child.
 Parents are made to understand the importance of safe environment for the
child and how they can prevent bleeding episodes in the child.
 Community support and resources should be discussed with parents.
 Parents should be told that whenever the child goes out of the house,he
should wear “Medic-alert identification card” with complete information
about the child and name of the physician treating him.
 The nurse must refer the parents to genetic counseling clinics.

17. PROGNOSIS
With the advent of factors replacement therapy and with proper care and
support, Hemophelics can lead a long and productive life .Hemophilics nowadays
reach adulthood with minimum side effects.
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