The document provides an overview of hemophilia, a hereditary blood coagulation disorder caused by deficiencies in clotting factors VIII or IX, primarily affecting males due to its X-linked recessive inheritance pattern. It covers the history, types, symptoms, management strategies, and prevention of bleeding episodes associated with the disorder. The text also highlights the significance of hemophilia in royal history, particularly through Queen Victoria, and discusses treatment options including replacement therapy and gene therapy.

1. HAFIZ M WASEEM UNIVERSITY
OF EDUCATION LAHORE

3. CONTENTS
• Hemophilia
• History
• Inheritance
• Causes
• Types
• Signs and symptoms
• Management Strategies
• Preventions
• Replacement therapy

4. WHAT IS HEMOPHILIA?
• Hemophilia is a common hereditary coagulation blood disorder due to deficiency or
reduced activity of clotting factor VIII or clotting factor IX. This disorder is a X
linked recessive disorder.
• It’s transmitted via females to men who are sufferers.
• Female who carry a single mutated gene, are generally asymptomatic and not
affected.

5. HISTORY OF HEMOPHILIA
• Best known of the hereditary bleeding disorders since 2nd century AD, (Talmud, Jewish
rabbinical Tradition and Laws manuscripts).
• First coined by Schonlein in 1820s.
• Originally termed “Haemorraphilia” i.e. love for haemorrhages but over time contracted to
Hemophilia.
• Hemophilia is often called the disease of kings, because it was carried by many members
of Europe’s royal families. Queen Victoria I of England was a carrier of hemophilia.

6. INHERITANCE OF HEMOPHILIA
• Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern.
In males
• (who have only one X chromosome), one changed copy of the gene in each cell is sufficient to cause the condition.
In females
• (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.
Because it is unlikely that females will have two changed copies of this gene, it is very rare for females to have
hemophilia.
Carrier
• In X-linked recessive inheritance, a female with one changed copy of the gene in each cell is called a carrier. Carrier
females have about half the usual amount of clotting factor VIII or clotting factor IX, which is generally enough for
normal blood clotting.

7. CAUSES OF HEMOPHILIA
• The father has hemophilia
• The mother does not have hemophilia and is not a carrier

8. CONT.………..
• The father does not have hemophilia
• The mother is a carrier

9. CONT.…………..
• The father has hemophilia
• The mother is a carrier

11. HEMOPHILIA A
• Also known as classic hemophilia or Factor VIII Deficiency
• People with this type of hemophilia have low levels of a blood clotting factor called figure 8 (FVIII). It’s
the most common.
Mild Hemophilia A:
• Do NOT have spontaneous bleeding but unusual bleeding occurs with surgery and tooth extractions.
People are usually diagnosed with this in later life.
Moderate Hemophilia A:
• spontaneous bleeding, delayed oozing after minor injury, and usually diagnosed before they are 5 to 6
years old.
Severe Hemophilia A:
• Spontaneous joint or deep muscle bleeding. Usually diagnosed within first two years of life.

12. HEMOPHILIA A

13. HEMOPHILIA B
• Also known as Christmas disease or Factor IX Deficiency.
• People with this type of hemophilia have low levels of a blood clotting factor called figure 9 (FIX).
• The two different types of hemophilia are caused by permanent gene changes (mutations). Mutations in the FVIII
gene cause Hemophilia A. Mutations in the FIX gene cause Hemophilia B.

14. HEMOPHILIA C
• Hemophilia C is a genetic disorder caused by missing or defective Factor XI clotting protein.
• The disease was first recognized in 1953 in patients who experienced severe bleeding after dental
extractions.
• The incidence of hemophilia C is estimated at one in every 100,000 people in the general population.
• Factor XI plays an important role in the clotting cascade, which leads to clotting. It helps generate more
thrombin, a protein that converts fibrinogen to fibrin, which traps platelets and helps hold a clot in place.
• In hemophilia C, joint and muscle bleeds are uncommon.

15. SIGNS AND SYMPTOMS OF
HEMOPHILIA
• Common signs of hemophilia include:
• 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.

17. MANAGEMENT STRATEGIES
• Prevention of bleeding episodes.
• Replacement therapy.
• Gene Therapy
• Desmopressin
• Other therapies

18. PREVENTIONS
• Control Bleeding Episodes
• Local measures: apply direct pressure; elevate or ice compress
• Epistasis sit up lean forward

19. REPLACEMENT THERAPY
• Fresh whole blood
• Whole plasma
• Fresh Frozen Plasma
• Factor VIII or IX Concentrate
• Recombinant Factor VII (Novo-Seven): to bypass factor VIII in the coagulation pathway

20. GENE THERAPY

21. ALWAYS DON’T FORGET…

22. THANKS

23. REFERENCES
 Dr Suhasis Mondal “Hemophilia ppt” (Dr R. Ahmed Dental College and Hospital).
 https://www.slideshare.net/bhatch457/hemophilia (accessed 20 April 2017 at19h00).
 https://www.cdc.gov/ncbddd/hemophilia/ (accessed 20 April 2017 at 20h00)
 https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes