haemophilic basics

1. FUNDAMENTALS OF GENETICS
Presented to: dr. shaheen Shahzad
Presented by: zuha tariq (960-FBAS/BSBT/F-17)
Minahil(960-FBAS/BSBT/F-17)
Laraib zamir (960-FBAS/BSBT/F-17)

2. HEMOPHILIA

3. INTRODUCTION
 Inherited bleeding disorder.
 Blood doesn’t clot properly.
 Haemo means blood.
 Philia means infection.

4. HISTORY
10TH
CENTUARY
• Abulcasis described families whose men died of
bleeding.
1803
• John Conrad Otto recognized a hereditary disorder
in which affected males were called bleeders.
1828
• Fredrich Hopff described a term Haemorrhaphilia

5. 1924
• A Finnish doctor discovered a bleeding disorder
which was called Von Willebrand Disease.
1937
• Patek and Taylor discovered anti hemophilic
globulin.
1947
• Pavlosky found Haemophilia A and
Haemophilia B as separate disease.

6. THE ROYAL DISEASE
 Haemophilia is also called
The Royal Disease because
Queen Victoria was a
carrier.
 Her daughters passed the
mutated genes onto the
members of royal families
of Germany, Spain and
Russia.

7. CAUSES OF HAEMOPHILIA
 Haemophilia is caused by genetic mutation.
 The mutation involves changes in genes that
code for proteins that is essential in blood
clotting process.
 These proteins are called blood clotting
factors.

8. HOW BLEEDING STARTS AND STOPS

9. GENETICS OF HEMOPHILIA
 Mostly X-Linked Recessive Trait.
 In males only one allele is sufficient to cause
hemophilia.
 In females a mutation would have to occur in both
alleles of the gene to cause hemophilia.

10. INHERITENCE

11. LEVELS OF SEVERITY
MildHaemophilia:
• Unusual
bleeding with
surgery and
tooth extraction.
Moderate Haemophilia:
• Spontaneous
bleeding,
delayed oozing
after minor
injury.
Severe Haemophilia:
• Spontaneous
joint or a deep
muscle
bleeding.

12. TYPES OF HAEMOPHILIA
• Abnormality of factor VIII
• X-Linked RecessiveHaemophilia A
• Disturbance in factor IX
• X-Linked RecessiveHaemophilia B
• Reduction in factor XI
• Autosomal RecessiveHaemophilia C

13. HAEMOPHILIA A
X-Linked Recessive Inheritance.
Abnormality in factor VIII.
1 in 1000 males.
Internal or external bleeding.
Muscle and joints haemorhages.
Digestive tract and cerebral.
• haemorhages.Bleeding Time Test.
Factor VIII

14. HAEMOPHILIA B
X-Linked Recessive Trait.
Disturbance in factor IX.
First recognized in 1952, also known as
Christmas Disease.
Bruising, Hematuria,
Epistaxis and Hemarthrosis.
Bleeding Scores.
Coagulation Screening Test.
Factor IX

15. HAEMOPHILIA C
Autosomal Recessive Disorder.
Also known as Plasma Thromboplastin Antecedent
(PTA) deficiency or Rosenthal Syndrome.
It occurs 1 in 100, 000 Males
Oral bleeding, blood in urine, post
partum bleeding and tonsils
bleeding.
Prothrombin time test.
Factor XI

16. SIGNS & SYMPTOMS
•Soft tissue bleeds
and bruising.
•Muscles bleeding.
•Neck swelling.
•Buttock bleeding.
•Bleeding in brain.

17. DIAGNOSIS
Before pregnancy.
After pregnancy.
•Chorionic Villus
Sampling (CVS)
•Amniocentesis
After birth.

18. PEDIGREE ANALYSIS
HH Hh
hh hh hh

19. TREATMENT
 Prevention:
Control bleeding episodes
Prevent joint degeneration
Avoid contact sports
Avoid IM injection

20. REPLACEMENT THERAPY
 Fresh whole blood
 Fresh Frozen Plasma
 Factor VIII or IX
Concentrate

21. GENE THERAPY

22. DESMOPRESSIN
 Desmopressin (DDAVP) is used to
help stop bleeding in patients with
von Willebrand's disease or
mild hemophilia A.
 DDAVP causes the release of von
Willebrand's antigen from the
platelets and the cells that line the
blood vessels where it is stored. Von
Willebrand's antigen is the protein
that carries factor VIII.

23. RICE

25. THANK YOUFOR
LISTENING