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genetic basis of hemophilia
1.
2.
“A group of hereditary genetic disorder
that impair the body's ability to
control blood clotting or coagulation,
which is used to stop bleeding when
a blood vessel is broken.”
In the whole history of hemophilia, the Jews
were first to recognize it. The hemophilia
blood disorder became known as the royal
disease because Queen Victoria was a
carrier.
3.
Hemophilia A - Classic Hemophilia or
Factor VIII deficiency (80% cases)
Haemophilia B - Christmas Disease or
Factor IX deficiency (20%
cases)
Haemophilia C – Acquired Hemophilia or
coagulant factor XI deficiency (very rare)
4. Characteristic symptoms vary with
severity.
Deep internal bleeding
Easy bruising
Joint damage
Transfusion transmitted infection
5.
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.
6.
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
chromosomes. Even though she doesn’t
have the condition, she can pass the gene
on to her children.
7. 1.
Carrier Mother + Non-hemophiliac
Father
When a carrier Mother and an unaffected
Father create a child, each pregnancy has a
25% chance of resulting in a female noncarrier, a 25% chance of a female carrier, a
25% chance of non-hemophiliac male, and
a 25% chance of a male with hemophilia.
8.
9. 2. Non-carrier Mother + Father With
Hemophilia
Each pregnancy has a 50% chance of a
female carrier and a 50% chance of a nonhemophiliac male. Sons of hemophiliac
fathers and non-carrier mothers will not
have hemophilia.
10.
11. 3. Carrier Mother + Father With
Hemophilia
Each pregnancy has a 25% chance of a
female carrier, a 25% chance of a female
with hemophilia, a 25% chance of a nonhemophiliac male, and a 25% chance of a
male with hemophilia.
12.
13. 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 resulting in a male with
hemophilia.
14.
15. 5.
Mother With Hemophilia + Nonhemophiliac Father
Each pregnancy has a 50% chance of
resulting in a female carrier and a 50%
chance of resulting in a male with
hemophilia.
16.
17.
Knowledge of genetics lets us make the
following statements about hemophilia:
Very rarely, a girl is born with hemophilia. This
can happen if her father has hemophilia and
her mother is a carrier.
Females who are carriers 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 aren’t carriers. In these cases, a
mutation (random change) occurs in the gene.
18.
Different types of hemophilia are classified
into:
Mild Hemophilia
5 – 30 % Normal Factor
Moderate Hemophilia
1 – 5% Normal Factor
Severe Hemophilia
<1% Normal factor
19. Hemophilia is quite rare, with only about 1
instance in every 10,000 births (or 1 in
5,001 male births) for hemophilia A and 1
in 50,000 births for hemophilia B.
20. Hemophilia isn’t 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 .
