Breif explaination about Hemophilia disease, the rare disease.

1. Seminar-1
Topic- Hemophilia
Presentation by :- Deepshikha Rathore
Roll number :- 20mbc002
Department of Biochemistry
Institute of Science, Nirma University.

2. Hemophilia :- the rare disease
What is Hemophilia ?-
o Hemophilia is an inherited bleeding disorder in which the blood does not clot
properly.
o This can lead to spontaneous bleeding as well as bleeding following injuries or
surgery.
o Sometime, it is referred to as Royal Disease, because many male descendants of
Queen Victoria were affected by the disease.
o It is also called as Bleeder’s disease due to continuous bleeding.

3. Difference between the blood vessels healthy human
and person having hemophilia

4. Cause of Hemophilia :-
o Hemophilia is caused by the changes or mutations in one of the genes that provides
instructions for making the clotting factor proteins needed to form a blood clot. These genes
are present on X chromosome.
o Hemophilia usually affects the males but in the rarer case females are also affected by this.
o Males can have the disease if they inherit an affected X chromosome that has a mutation in
either the factor (viii) or factor (ix) gene.
o In females, the both X chromosomes are affected or one is affected and the other is missing or
inactive.
o It occurs in 1 of every 5,000 male births.
o Hemophilia can be mild, moderate or severe depending upon the amount of clotting factors
present in the body.

5. How Hemophilia is inherited ?
In one third of people with hemophilia there is
no family history of this disorder.
There are three possibilities :-
1) When mother is the carrier of hemophilia gene
and father does not have any hemophilia -
• There is 50% chances that each son has
Hemophilia.
• There is 50% chances that each daughter is the
carrier of hemophilia gene.

6. 2) When mother is not the carrier of
hemophilia gene and father has hemophilia -
• All daughters will carry the hemophilia carrier
gene.
• No chances of sons having hemophilia.

7. 3) When mother is the carrier of
hemophilia gene and father has
hemophilia -
• 50% chances of daughters having
hemophilia and 50% chances of having
hemophilia carrier gene.
• 50% chances of sons having hemophilia.
In this case only, a daughter can be
affected by hemophilia.

8. Hemophilia can result in :-
Subcutaneous and
intramuscular
hemorrhaging.
Nose bleeding Blood in urine
Hemorrhage in joints
leads to pain and tissue
damage
Bleeding in head and
sometimes in brain that
can cause long term
problems, such as
Seizures and Paralysis
Death can also occur if it
cannot be stopped.

9. Types of Hemophilia
• Hemophilia A (Classic Hemophilia) :- it is caused by
a lack or decrease of clotting factor (viii). It comprises
about 80% of total Hemophilia cases. Most of them
are severe cases.
• Hemophilia B (Christmas Hemophilia) :- it is
caused by a lack or decrease of clotting factor (ix). It is
seen in 1 in every 20,000 males born worldwide.
• Sometimes Hemophilia C is also referred as the
disease caused by the lack of clotting factor (xi).
There are
two types
of
hemophilia,
commonly
known :-

10. Diagnosis
Diagnosis includes screening test and clotting
factor test
i) Screening Test :- Screening tests are blood tests
that show if blood is clotting properly or not.
ii) Clotting Factor Test :- Also called as factor assay
that analyses the amount of clotting factors (factor
viii and factor ix) in the blood and shows the type
of hemophilia and its severity.

11. Treatment
o Treatment involves transfusion and replacement of fresh blood plasma or
concentrates the deficient blood clotting factor to relieve the tendency to bleed.
o Another is the drug Desmopressin (trade name DDAVP) which can boost the level of
clotting factors. It is mostly used in diagnosis of Hemophilia A.
o Treatment can help but the disease cannot be cured.
o Researchers are working on gene therapy mechanism for the permanent cure of the
disease.
References :- Principles of Anatomy and Physiology
(Gerard J. Tortora and Bryan Derrickson)
and www.cdc.gov (website).

12. Thank you