Hematological disorder of child

1. HEMOPHILIA
(Royal Disease)
PRESENTED BY:
MRS. M.LASKHMI, M.SC (N)
OBSTETRIC & GYNECOLOGICAL
NURSING

3. INTRODUCTION
 Hemophilia is an inherited bleeding
disorder due to deficiency of plasma
coagulation factors.
 People with hemophilia have low levels of
either factor VIII (8) or factor IX (9).

4. INCIDENCE
 It is primarily found in males but transmitted by
female carriers.
 Hereditary hemophilia account about 80% of
cases as sex linked chromosomes
 About 20% of cases may account as acquired
hemophilia due to autoimmune disorder/
spontaneous mutation

5. History of hemophilia
 Hemophilia is sometimes referred to as “the royal
disease,” because it affected the royal families of
England, Germany, Russia and Spain in the 19th and
20th centuries.
 Queen Victoria of England, is believed to have been the
carrier of hemophilia B, or factor IX deficiency.
 She passed the trait on to three of her nine children. Her
son Leopold died of a hemorrhage after a fall when he
was 30.
 Her daughters Alice and Beatrice passed it on to several
of their children.
 Hemophilia was carried through various royal family
members for three generations after Victoria, then
disappeared.

7. CLASSIFICATION
The following two are the common:
Hemophilia A (Classic Hemophilia)
This type is caused by a lack or decrease of
clotting factor VIII, the antihemophilic factor
(AHF). It accounts for 80-85% of all cases.1in
5000-10,000 male births.
Hemophilia B (Christmas Disease)
This type is caused by a lack or decrease of
clotting factor IX, the plasma thromboplastin
component (PTC). 15-20% cases.1 in 20,000-
34,000 male births.

8. CLASSIFICATION
 Less common
Hemophilia C
This type is caused by a lack or decrease of
factor XI, plasma thromboplastin antecedent
(PTA).
Hageman’s disease: deficiency of factor XII
Von Willebrand’s disease: reduced level of Von
Willebrand’s factor, a protein that binds with
factor VIII & protects it from rapid breakdown
within blood.

9. Hemophilia classification
 Classified based upon the factor VIII &
IX level in plasma.

10. 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.

11. Causes of acquired
hemophilia

12. Pathophysiology

14. CLINICAL MANIFESTATIONS

15. HEMORRHAGE JOINTS (HEMARTHROSIS)

17. Diagnostic evaluation

18. Diagnostic evaluation
 A typical aPTT value is 30 to 40 seconds.-
prolonged
 Bleeding time is between 2-7 minutes- normal
 clotting time in a person is between 8-15
minutes.-prolonged
 Normal ranges for factor VIII levels are 50% to
150%. If your factor VIII activity level is less
than 50%, you may have hemohilia A.
 The reference range for factor IX is between
60% and 140% of normal values.

19. MANAGEMNET
Replacement of missing coagulation factors
 Factor VIII made from cryoprecipitate-
Hemophilia A
 Factor IX & XI made from Fresh frozen
plasma.
 Fresh whole blood transfusion can be
given if the commercially prepared factors
are not available.

20. MANAGEMNET
 Mild to moderate hemophilia-
Desmopressin (Release of factor VIII
from the endothelial stores)

21. MANAGEMNET
 Antifibrinolytics – Aminocaproic acid &
tranexamic acid are given for mucosal
bleeding

22. MANAGEMNET
 Supportive management for hemarthrosis

23. Cont…
 Pain- Analgesic like paracetamol or
NSAIDs.
 Avoid aspirin, indomethacin &
betazolidone as they inhibit platelets
function.
 Synovectomy can be recommended to
remove damage synovium.

24. MANAGEMNET
 Orthotics can be used to prevent injury

25. MANAGEMNET
 Gene therapy is now under research
 Genetic counselling & antenatal diagnosis
should be arranged

26. COMPLICATIONS
 Airway obstruction due to bleeding into
the neck & pharynx
 Intracranial bleeding
 Intestinal obstruction
 Compartment syndrome
 Degenerative joint disease
 Chronic hepatitis
 Risk of HIV/AIDS

27. Prevent complications
 Prevention of injury
 Avoidance of IM injection
 Immunization against hepatitis B
 Providing emotional support
 Precautions should be taken before any
surgery.

28. Once you choose hope, anything is possible
-Christopher Reeve
Thank you