student of BS Biological sciences, Karakoram International University Gilgit-Baltistan, Pakistan.

1. Zakia: 2016-KIU-1067
Nargis: 2018-KIU-1385
Ahmad: 2018-KIU-1387

2. Definition
 Hemophilia is an inherited bleeding disorder in
which a person lacks or has low levels of certain
proteins called “clotting factors” and the blood
doesn’t clot properly this leads to excessive
bleeding.

4.  Hemophilia has been called a "royal
disease".
 This is because the hemophilia gene was
passed from Queen Victoria, who became
Queen of England in 1837, to the ruling
families of Russia, Spain, and Germany.
 It was caused by spontaneous mutation.

5.  Secondary homeostasis, as arrest the blood
loss from ruptured vessels.
 Clotting factors are proteins in the blood
that work together with platelets to stop or
control bleeding.
 If the lining of the blood vessels becomes
damaged, platelets are recruited to the
injured area to form an initial plug.

6.  These activated platelets release chemicals
that start the clotting cascade, activating
the series of 13 proteins known as clotting
factors.
 First factor X is released at injured area.
 Factor X results in the cleavage
of prothrombin (factor II) to thrombin (factor
IIa).

7.  Thrombin, in turn, catalyzes the conversion
of fibrinogen a soluble plasma protein—into
long, sticky threads of insoluble fibrin.
 Ultimately, fibrin is formed, the protein that
crosslink with itself to form a mesh that
makes up the final blood clot.

9.  hemophilia A & B caused by a genetic
mutation.
 A defect in genes for determining clotting
factor VIII,IX or XI.
 Only X chromosome carries gene for clotting
factors.
 Males are most likely to affected because it is
X-linked recessive disease.

10.  When Female have one hemophilia gene, she
is a carrier for hemophilia.
 She can pass onto the next generation
 About 70% of all people with hemophilia A or
B inherited the disease.
 The other 30% develop from a
spontaneous genetic mutation.

14. The major types of this condition are:
 hemophilia A (classic hemophilia or factor VIII
deficiency)
 hemophilia B (Christmas disease or factor IX
deficiency).
 Hemophilia C (Rosenthal syndrome) results from a
deficiency in factor 11).

15.  It is a genetic disorder in which gene or
clotting factor VIII mutated.
 Leads to spontaneous bleeding following
injury, cut or surgery.
 Inherited as X-linked recessive trait.
 Also called classic hemophilia
 Over 80% of patients have hemophilia A.

16.  The partial thromboplastin time(PTT) is
usually prolonged.
 Hemophilia A affects between one in 5,000 to
one in 10,000 males in most populations.

17.  It results due to inherited mutation of gene
for factor IX.
 prothrombin time is usually prolonged.
 The disease is named as Christmas disease
for Stephen Christmas, who was the first
person diagnosed with the condition in 1952.
 It affects only 15-20% of people
with hemophilia.

18.  Hemophilia C is a mild form of the disease that’s
caused by a deficiency of factor XI.
 Hemophilia C is an autosomal inherited form of
the disease, meaning that it affects males and
females equally.
 People with this rare type of hemophilia often
don’t experience spontaneous bleeding.
 Hemorrhaging typically occurs after dental
extraction, trauma or surgery.

20.  Also called plasma thromboplastin
antecedent deficiency (PTA
deficiency), and Rosenthal syndrome.
 First recognized in 1953.
 It has been observed mostly in
persons of Ashkenazi Jewish ancestry.
 In the United States, it is thought to affect 1
in 100,000 of the adult population.

21. (percentage breakdown of overall
hemophilia population by severity)
 Severe (factor levels less than 1%) represent
approximately 60% of cases
 Moderate (factor levels of 1-5%) represent
approximately 15% of cases
 Mild (factor levels of 6%-30%) represent
approximately 25% of cases

23. Signs and symptoms of spontaneous bleeding include:
 Unexplained and excessive bleeding from cuts or
injuries, or after surgery or dental work
 Unusual bleeding after vaccinations
 Pain, swelling or tightness in your joints, it often
affects the knees, elbows, and ankles.
 Blood in urine or stool
 Nosebleeds without a known cause

26.  In infants, unexplained irritability
 Painful, prolonged headache
 Repeated vomiting
 Sleepiness or lethargy
 Double vision
 Sudden weakness or clumsiness
 Convulsions or seizure

29.  Bleeding into the skin (which is bruising)
 Bleeding in the 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.

30.  One recent study estimated the prevalence
of hemophilia was 13.4 cases per 100,000 US.
 Males (10.5 hemophilia A and
2.9 hemophilia B).
 By race/ethnicity, the prevalence was 13.2
 cases/100,000 among white, 11.0 among
African-American,
and 11.5 among Hispanic males.

31.  Genetic testing
 Blood test, platelet count
 Clotting factor VIII, IX, XI test factor assays
 Check Signs and symptoms of hemophilia in
newborn baby
 an activated partial thromboplastin time test
 a prothrombin time tests
 a fibrinogen test

32.  Coagulation factor replacement therapy.
 hemophilia can be treated by infusing patient
blood with donor clotting factors VIII or IX.
 Clotting factors may be synthetic called
recombinant clotting factors.
 Aminocaproic acid prevents the breakdown of
blood clots. It is often recommended before
dental procedures, and to treat nose and mouth
bleeds.

33.  Gene therapy:
introduction of a normal gene into an
individual’s genome in order to repair a
mutation that causes a genetic disease.
 A carrier called a vector is genetically
engineered to deliver the gene.
 Certain viruses are often used as vectors
because they can deliver the new gene by
infecting the cell.

36.  Applying desmopressin acetate to small wounds
to stop the bleeding that stimulates clotting
factors.
 by performing the infusions on a regular basis
(called prophylaxis), can even prevent most
bleeding episodes.
 Good quality medical care from doctors and
nurses.

37.  hemophilia C can be treated using plasma
infusion, The infusion works to stop profuse
bleeding.
 Hormone therapy – administered as birth-
control pills, injections and intrauterine
devices (IUDs) for hemophilia C.
 Physical therapy for rehabilitation if joints
are damaged by hemophilia.

38.  Bleeding within joints that can lead to
chronic joint disease and pain.
 Bleeding in the head and sometimes in the
brain which can cause long term problems,
such as seizures and paralysis.
 Death can occur if the bleeding cannot be
stopped or if it occurs in a vital organ such as
the brain.

39. Infections:
 People with hemophilia are likelier to have
blood transfusions, increasing their risk of
receiving contaminated blood products.
 Blood products became safer after the mid-
1980s due to screening of donated blood for
hepatitis and HIV.

40. Adverse reaction to clotting factor treatment:
 In some people with hemophilia, the immune
system has a negative reaction to the clotting
factors used to treat bleeding.
 When this happens, the immune system
develops proteins (known as inhibitors) that
inactivate the clotting factors, making
treatment less effective.

41.  Get an annual comprehensive checkup at a
hemophilia treatment center.
 Get vaccinated—Hepatitis A and B are
preventable.
 Treat bleeds early and adequately.
 Exercise and maintain a healthy weight to
protect your joints.
 Get tested regularly for blood-borne infections.