INDEX

 Abstract
 History
 Heamophilia A
 Genetics
 Symptoms
 Diagnosis
 Treatments
 Heamophilia B
 Genetics
 Symptoms
 Diagnosis
 Treatments
 Conclusion
 Biblography

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 ABSTRACT

Haemophilia is a mostly inherited genetic disorder that

impairs the body's ability to make blood clots, a process
needed to stop bleeding.This results in people bleeding for a
longer time after an injury, easy bruising, and an increased risk
of bleeding inside joints or the brain. Bleeding into a joint can
result in permanent damage while bleeding in the brain can
result in long term headaches, seizures, or a decreased level of
consciousness.
There are two main types of haemophilia: haemophilia A, which
occurs due to low amounts of clotting factor VIII,
and haemophilia B, which occurs due to low levels of
clotting factor IX. They are typically inherited from one's
parents through an X chromosome with a nonfunctional gene.
Rarely a new mutation may occur during early development or
haemophilia may develop later in life due to antibodies forming
against a clotting factor. Other types include haemophilia C,
which occurs due to low levels of factor XI,
and parahaemophilia, which occurs due to low levels of factor
V. Acquired haemophilia is associated
with cancers, autoimmune disorders, and pregnancy. Diagnosis
is by testing the blood for its ability to clot and its levels of
clotting factors.

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 HISTORY
European royalty
Haemophilia has featured prominently in European royalty and
thus is sometimes known as 'the royal disease'. Queen
Victoria passed the mutation for haemophilia B to her
son Leopold and, through two of her daughters, Alice and
Beatrice, to various royals across the continent, including the
royal families of Spain, Germany, and Russia. In
Russia, Tsarevich Alexei, the son and heir of Tsar Nicholas II,
famously suffered from haemophilia, which he had inherited
from his mother, Alexandra, one of Queen Victoria's
granddaughters. The haemophilia of Alexei would result in the
rise to prominence of the Russian mystic Grigori Rasputin, at
the imperial court.
In Spain, Queen Victoria's youngest daughter, Princess
Beatrice, had a daughter Victoria Eugenie of Battenberg, who
later became Queen of Spain. Two of her sons were
haemophiliacs and both died from minor car accidents. Her
eldest son, Prince Alfonso of Spain, Prince of Asturias, died at
the age of 31 from internal bleeding after his car hit a
telephone booth. Her youngest son, Infante Gonzalo, died at
age 19 from abdominal bleeding following a minor car
accident in which he and his sister hit a wall while avoiding a
cyclist.

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 TYPES

The two most common types of hemophilia are factor VIII

deficiency (hemophilia A) and factor IX deficiency
(hemophilia B, or Christmas disease).Hemophilia A and
hemophilia B are inherited conditions and considered rare
diseases by the National Institutes of Health. A rare disease is
one that affects fewer than 200,000 individuals in the United
States. Both hemophilia A and B affect all races and ethnic
groups equally.Hemophilia A is most common. It occurs in
about one in 5,000 male births; annually about 400 babies are
born with hemophilia A.Hemophilia B is the second most
common type of hemophilia. Hemophilia B occurs in about
one in 25,000 male births and affects about 3,300 people in the
United States.
According to the US Centers for Disease Control and
Prevention, the exact number of people living with hemophilia
in the United States is not known, although researchers
currently estimate it to be about 20,000.
Hemophilia A and B are the best known types of hemophilia,
but other clotting factor deficiencies also exist. Hemophilia C,
also known as Rosenthal syndrome, is caused by low levels of
factor XI (11), another blood protein required to make a blood
clot. Although associated with bleeding, hemophilia C differs
from hemophilia A and B in cause and bleeding tendency.

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HAEMOPHILIA A:
Hemophilia A, also called factor VIII (FVIII) deficiency or
classic hemophilia, is a genetic disorder caused by missing or
defective factor VIII, a clotting protein. Although it is passed
down from parents to children, about 1/3 of cases are caused
by a spontaneous mutation, a change in a gene.
According to the US Centers for Disease Control and
Prevention, hemophilia occurs in approximately 1 in 5,000 live
births. There are about 20,000 people with hemophilia in the
US. All races and ethnic groups are affected. Hemophilia A is
four times as common as hemophilia B while more than half of
patients with hemophilia A have the severe form of
hemophilia.
Genetics
The X and Y chromosomes are called sex chromosomes. The
gene for hemophilia is carried on the X chromosome.
Hemophilia is inherited in an X-linked recessive manner.
Females inherit two X chromosomes, one from their mother
and one from their father (XX). Males inherit an X
chromosome from their mother and a Y chromosome from
their father (XY). That means if a son inherits an X
chromosome carrying hemophilia from his mother, he will
have hemophilia. It also means that fathers cannot pass
hemophilia on to their sons.

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But because daughters have two X chromosomes, even if they
inherit the hemophilia gene from their mother, most likely they
will inherit a healthy X chromosome from their father and not
have hemophilia. A daughter who inherits an X chromosome
that contains the gene for hemophilia is called a carrier. She
can pass the gene on to her children. Hemophilia can occur in
daughters, but is rare.
For a female carrier, there are four possible outcomes for each
pregnancy:
1. A girl who is not a carrier
2. A girl who is a carrier
3. A boy without hemophilia
4. A boy with hemophilia
Severity
(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 

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Symptoms
People with hemophilia A often, bleed longer than other
people. Bleeds can occur internally, into joints and muscles, or
externally, from minor cuts, dental procedures or trauma. How
frequently a person bleeds and the severity of those bleeds
depends on how much FVIII is in the plasma, the straw-
colored fluid portion of blood.
Normal plasma levels of FVIII range from 50% to 150%.
Levels below 50%, or half of what is needed to form a clot,
determine a person’s symptoms.
 Mild hemophilia A-  6% up to 49% of FVIII in the
blood. People with mild hemophilia Agenerally
experience bleeding only after serious injury, trauma or
surgery. In many cases, mild hemophilia is not diagnosed
until an injury, surgery or tooth extraction results in
prolonged bleeding. The first episode may not occur until
adulthood. Women with mild hemophilia often experience
menorrhagia, heavy menstrual periods, and can
hemorrhage after childbirth.
 Moderate hemophilia A. 1% up to 5% of FVIII in the
blood. People with moderate hemophilia A  tend to have
bleeding episodes after injuries. Bleeds that occur without
obvious cause are called spontaneous bleeding episodes.
 Severe hemophilia A.  <1% of FVIII in the
blood. People with severe hemophilia A experience
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 bleeding following an injury and may have frequent
spontaneous bleeding episodes, often into their joints and
muscles.
Diagnosis
The best place for patients with hemophilia to be diagnosed
and treated is at one of the federally-funded hemophilia
treatment centers (HTCs) that are spread throughout the
country. HTCs provide comprehensive care from skilled
hematologists and other professional staff, including nurses,
physical therapists, social workers and sometimes dentists,
dieticians and other healthcare providers.
A medical health history is important to help determine if other
relatives have been diagnosed with a bleeding disorder or have
experienced symptoms. Tests that evaluate clotting time and a
patient’s ability to form a clot may be ordered. A clotting
factor test, called an assay, will determine the type of
hemophilia and its severity.

Treatment
The main medication to treat hemophilia A is concentrated
FVIII product, called clotting factor or simply factor.
Recombinant factor products, which are are developed in a lab
through the use of DNA technology, , preclude the use of
human-derived pools of donor-sourced plasma. And while
plasma-derived FVIII  products are still available,
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approximately 75% of the hemophilia community takes a
recombinant FVIII product.
These factor therapies are infused intravenously through a vein
in the arm or a port in the chest. The Medical and Scientific
Advisory Council (MASAC) of the National Hemophilia
Foundation encourages the use of recombinant clotting factor
products because they are safer. Your doctor or your HTC will
help you decide which is right for you.Patients with severe
hemophilia may be on a routine treatment regimen, called
prophylaxis, to maintain enough clotting factor in their
bloodstream to prevent bleeds. MASAC recommends
prophylaxis as optimal therapy for children with severe
hemophilia A.
DDAVP (desmopressin acetate) is the synthetic version of
vasopressin, a natural antidiuretic hormone that helps stop
bleeding. In patients with mild hemophilia, it can be used for
joint and muscle bleeds, for bleeding in the mucous
membranes of the nose and mouth, and before and after
surgery. It comes in an injectable form and a nasal
sprayAminocaproic acid prevents the breakdown of blood
clots. It is often recommended before dental procedures, and to
treat nose and mouth bleeds. It is taken orally, as a tablet or
liquid. MASAC recommends that a dose of clotting factor be
taken first to form a clot, then aminocaproic acid, to preserve
the clot and keep it from being broken down prematurely

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HAEMOPHILIA B:
Hemophilia B, also called factor IX (FIX) deficiency or
Christmas disease, is a genetic disorder caused by missing or
defective factor IX, a clotting protein. Although it is passed
down from parents to children, about 1/3 of cases are caused
by a spontaneous mutation, a change in a gene.
According to the US Centers for Disease Control and
Prevention, hemophilia occurs in approximately 1 in 5,000 live
births. There are about 20,000 people with hemophilia in the
US. All races and ethnic groups are affected. Hemophilia B is
four times less common than hemophilia A.
Genetics
The X and Y chromosomes are called sex chromosomes. The
gene for hemophilia is carried on the X chromosome.
Hemophilia is inherited in an X-linked recessive manner. 
Females inherit two X chromosomes, one from their mother
and one from their father (XX). Males inherit an X
chromosome from their mother and a Y chromosome from
their father (XY). That means if a son inherits an X
chromosome carrying hemophilia from his mother, he will
have hemophilia. It also means that fathers cannot pass
hemophilia on to their sons.
But because daughters have two X chromosomes, even if they
inherit the hemophilia gene from their mother, most likely they
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will inherit a healthy X chromosome from their father and not
have hemophilia. A daughter who inherits an X chromosome
that contains the gene for hemophilia is called a carrier. She
can pass the gene on to her children. Hemophilia can occur in
daughters, but is rare.
For a female carrier, there are four possible outcomes for each
pregnancy:
1. A girl who is not a carrier
2. A girl who is a carrier
3. A boy without hemophilia
4. A boy with hemophilia
Symptoms
People with hemophilia B bleed longer than other people.
Bleeds can occur internally, into joints and muscles, or
externally, from minor cuts, dental procedures or trauma. How
frequently a person bleeds and how serious the bleeds are
depends on how much FIX is in the plasma, the straw-colored
fluid portion of blood.
Normal plasma levels of FIX range from 50% to 150%. Levels
below 50%, or half of what is needed to form a clot, determine
a person’s symptoms.
 Mild hemophilia B.  6% up to 49% of FIX in the
blood. People with mild hemophilia B typically
experience bleeding only after serious injury, trauma or
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 surgery. In many cases, mild hemophilia is not diagnosed
until an injury, surgery or tooth extraction results in
prolonged bleeding. The first episode may not occur until
adulthood. Women with mild hemophilia often experience
menorrhagia, heavy menstrual periods, and can
hemorrhage after childbirth.
 Moderate hemophilia B. 1% up to 5% of FIX in the
blood. People with moderate hemophilia B tend to have
bleeding episodes after injuries. Bleeds that occur without
obvious cause are called spontaneous bleeding episodes.
 Severe hemophilia B.  <1% of FIX in the blood. People
with severe hemophilia B experience bleeding following
an injury and may have frequent spontaneous bleeding
episodes, often into their joints and muscles.

Diagnosis
The best place for patients with hemophilia to be diagnosed
and treated is at one of the federally-funded hemophilia
treatment centers (HTCs) that are spread throughout the
country. HTCs provide comprehensive care from skilled
hematologists and other professional staff, including nurses,
physical therapists, social workers and sometimes dentists,
dieticians and other healthcare providers.
A medical health history is important to help determine if other
relatives have been diagnosed with a bleeding disorder or have
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experienced symptoms. Tests that evaluate clotting time and a
patient’s ability to form a clot may be ordered. A clotting
factor test, called an assay, will determine the type of
hemophilia and its severity
Treatment
The main medication to treat hemophilia B is concentrated FIX
product, called clotting factor or simply factor. Recombinant
factor products, which are developed in a lab through the use
of DNA technology, , preclude the use of human-derived pools
of donor-sourced plasma. And while plasma-derived FIX 
products are still available, approximately 75% of the
hemophilia community takes a recombinant FIX product.
These factor therapies are infused intravenously through a vein
in the arm or a port in the chest. The Medical and Scientific
Advisory Council (MASAC) of the National Hemophilia
Foundation encourages the use of recombinant clotting factor
products because they are safer. Your doctor or your HTC will
help you decide which is right for you.
Patients with severe hemophilia may be on a routine treatment
regimen, called prophylaxis, to maintain enough clotting factor
in their bloodstream to prevent bleeds. MASAC recommends
prophylaxis as optimal therapy for children with severe
hemophilia B.

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Aminocaproic acid is an antifibrinolytic, preventing the
breakdown of blood clots. It is often recommended before
dental procedures, and to treat nose and mouth bleeds. It is
taken orally, as a tablet or liquid. MASAC recommends that a
dose of clotting factor be taken first to form a clot, then
aminocaproic acid, to preserve the clot and keep it from being
broken down prematurely.

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 CONCLUSION

Hemophilia care in the pediatric age is a multidisciplinary task.

It requires the contribution of the hematologist, specialized in
hemostasis and thrombosis with experience in pediatric
patients, the surgeon with experience of CVADs in children,
the psychologist and social worker, the pharmacist, the
orthopedic, physiatrist and physiotherapist, and the nurse team
to assist the patient and his family on a regular basis. It is of
great importance to establish a liaison with the family and the
child with hemophilia, in order to promote trust, reliability and
good communication between the family and their caregivers.
Setting this basis in the pediatric age can have an impact on the
disease outcome in adult age. The goal must be to avoid
bleeding complications and joint damage in the pediatric age in
order to enable the hemophiliac patient to reach adulthood as
healthy as possible.

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 BIBLIOGRAPHY

 https://en.wikipedia.org/wiki/Haemophilia
 https://www.ihtc.org/types-of-hemophilia/
 https://www.hemophilia.org/Bleeding-Disorders/Types-of-
Bleeding-Disorders/Hemophilia-A
 https://www.hemophilia.org/Bleeding-Disorders/Types-of-
Bleeding-Disorders/Hemophilia-B
 https://www.slideshare.net/HelaoSilas/haemophilia-
76369646

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