by hafiz m Waseem university of education Lahore

2. HAFIZ M WASEEM UNIVERSITY
OF EDUCATION LAHORE

3. : Hemophilia

4. ■ Table of contents.
■
■ Definition
■ Main types
■ Major signs and symptoms
■ Genetics of hemophilia
■ Different cases
■ Knowledge of genetics
■ Different types.
■ Occurrence.
■ Management.
■ Treatment.
■ Prevention.
■ Reference

5. Hemophilia
“A group of hereditary genetic disorder that impairs the body’s ability to control blood clotting
or coagulation which is used to stop bleeding when blood vessel is broken.
■ In the whole history of hemophilia, the Jews were first to recognize it . The hemophilia blood
disorder became unknown disorder as the royal disorder because Queen Victoria was a carrier

6. Main Types of hemophilia :
■ Hemophilia A - classic hemophilia or factor VIII deficiency (80% cases)
■ Hemophilia B - Christmas disorder or factor IX (20% cases).
■ Hemophilia C – Acquired hemophilia or coagulant factor XI deficiency (very rare).
Major signs and symptoms :
■ Characteristics symptoms bind with rare severity.
■ Deep internal bleeding
■ Easy bruising
■ Joint damage
■ Transfusion transmitted infection

7. Genetics of hemophilia
■ Hemophilia is an inherited X-linked genetic disorder.
■ Our bodies have 12 clotting factors that work together in blood clotting and they are present on X
chromosome. Having too little of factors VIII, IX, or XI cause hemophilia.
■ A person with hemophilia will only lack one factor not the three.
■ A characteristic of X-linked inheritance is that fathers cannot pass X linked traits to their sons. It
is inherited in zig – zag manner .
■ A male is Affected if he has the abnormal gene on his X chromosome.
■ A female is a carrier of hemophilia if she has the abnormal gene on one of her X chromosome .
Even though she does not have the condition , she can pass the gene on her children.

8. Different cases
1. Carrier Mother + Non-hemophilic Father.
When a carrier mother and an unaffected father create a children, each pregnancy has a 25%
chances of resulting in a female carrier , a 25% chance of a female carrier, a 25% chance of non
hemophiliac male , and a 25% chance of a male with hemophilia.

9. ■
Non-carrier Mother + Father with hemophilia. Each pregnancy
has a 50% chance of a female carrier and a 50% chance of a non hemophiliac male. Sons of
hemophiliac fathers and non – carrier mothers will not have hemophilia.

10. 3. Carrier Mother + father with hemophilia. Each pregnancy has a
25% chance of a female carrier and 25% chance of a female carrier, a 25% chance of a female with
hemophilia, a 25% chance of a non -hemophiliac male, and a 25% chance of a male with hemophilia.

11. 4. Mother with hemophilia + Father with hemophilia
■
Each pregnancy has a 50% chance of resulting in a female with hemophilia and a 50% chance of
a resulting in a male with hemophilia.

12. 5. Mother with hemophilia + non -hemophiliac father. Each
pregnancy has a 50% chance of resulting in a female carrier and a 50% chance of resulting in male
with hemophilia.

13. ■ Knowledge of genetics let us make the following statements about hemophilia :
■ rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her
mother is a carrier.
■ Female who are carriers are usually have enough clotting factors from their one normal X
chromosome to prevent serious bleeding problems.
■ Some males with the disorder are born to mothers who are not carriers. In these cases, a mutation
(random change) occurs in the gene.

14. ■ Different types of hemophilia are classified into :
■ Mild hemophilia
■ 5 to 30% normal factor
■ Moderate hemophilia
■ 1 to 5 % normal factor
■ Severe hemophilia
■ <1% normal factor

15. ■ Occurrence
■ Hemophilia is quite rare, with only about 1 instance in Every 10,000 birthday (or in 5, 001 male births)
for hemophilia A and 1 in 50,000 births for hemophilia B.
■
■ Management
■ Hemophilia is not curable, but treatment can prevent crippling deformities and prolong life expectancy .
Correct treatment quickly stops bleeding by increasing plasma levels of the deficient clotting factor.
This helps to prevent disabling deformities due to repeated bleeding into muscles and joints.
■
■ Treatment :
■ Replacement of the missing clotting factors
■ Desmopressin
■ Injected into vein
■ Can be given as nasal medication
■ Helps body release factor VIII
■

16. ■ Prevention :
■ Cannot be prevented because it is genetic disorder
■ Genetic counseling
■ Figures out the change of your child getting hemophilia
■ Regular Exercise
■ Prevents bleeding
■

17. ■ Reference :
■ Http://www.nhlbi.nih.gov/health/dci/diseases/hemophililia/hemophilia_what.html
■ Http://ghr.nlm.nih.condition/hemophilia