Hemophilia is a genetic bleeding disorder caused by mutations in genes responsible for blood clotting factors VIII, IX or XI. This leads to prolonged bleeding from cuts or wounds. There are three main types - hemophilia A is the most common type caused by factor VIII deficiency. Hemophilia B or Christmas disease results from factor IX deficiency. Hemophilia C is a rare form caused by factor XI deficiency. Treatment involves replacing the missing clotting factor through infusions to control bleeding. Complications can include joint damage and life-threatening internal bleeding if not properly managed.

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.