INDEX

• What is Hemophilia?
• Causes.
• Symptoms. stmms ad
• Guys.
• Treatment.
• Forecast.
• Hemophilia is a chronic, congenital,
hereditary and sex-linked disease suffered by
men and transmitted by women linked to the
X chromosome that consists of the difficulty
of blood to clot.
properly. It is characterized by the
appearance of internal and external bleeding
due to the partial deficiency of a coagulant
protein called antihemophilia globulin
(coagulation factor).
•
8 The ? Coagulation factors are a group of proteins responsible for activating the coagulation process.
\ coagulation. The factors of c
cascade, that is, one activates the next; If you are n act in
deficient in a factor, coagulation does not occur.
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When there is a lack or deficiency of any clotting factor, it takes longer for the blood to form the coagulation
factor.
' 5 clot and, even if it does form, it is not consistent * and does not form » a good plug to stop the bleeding ,
therefore, in severe hemophiliacs , even small wounds can cause abundant and even fatal blood loss. The
h X* 8
to in the eg,
hemophiliacs. 82- Y
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 CAUSES
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• In each cell there are 46 chromosomes: half we
receive as inheritance from the mother and the
other
................./ .
1

half of the father. Chromosomes contain the

necessary instructions to tell cells how to make the
proteins that the body requires for its function.
These instructions are contained in small
formations called genes, made up of DNA.
 Women are the carrier and men suffer from it . This
is because the instructions to produce factor VIII and
factor IX are always located on the X chromosome; so
that in the woman who has such a problem in one of
her X chromosomes, her other "healthy" X
chromosome assumes the functions of *
both. On the contrary, in a man, his other
chromosome – the Y cannot do it, and thus he will
suffer from the coagulation disorder. Currently, in
Spain the incidence of people born with hemophilia
is one in every 15,000 births.
 healthy man and Hemophilic man Hemophilic man and
female carrier and healthy woman

XYXX 0 c XX

XI XX XI XX
Healthy Healthy Hemophilic Carrier
XI XX XI XX
e ar
Healthy Carrier Healthy Carrier
XI XX XI XX
Healthy Hemophilic Hemophilic Carrier
• The main characteristic of Hemophilia A and B is
I hemarthrosis and spontaneous prolonged bleeding.
ri
P6 The most serious hemorrhages are those that occur
in joints, brain, eye, tongue, throat, kidneys, digestive bleeding, genitals, etc.

The most common clinical manifestation in hemophiliacs is hemarthrosis, intra-articular bleeding that
especially affects single-axis joints such as the knee, elbow or ankle. ' If hemarthrosis occurs repeatedly in a
joint, a deformity and muscle atrophy called hemophilic arthropathy results .
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 • There are
three varieties
A, when there
is a ophilia: '
coagulation hemophilia
deficiency, actor VIII'
hemophilia coa factor IX an oh an C,
deficiency is factor XI tion that
• The most commons
are
deficiency.
GUY Hemophilia A1 Hemophilia B2 Hemophilia C3
Other names classic hemophilia Christmas disease factor deficiency
Common hemophilia (named after Stephen XI
factor deficiency Christmas, the English
VIII boy who was the first
person to be diagnosed
with this disorder)
Factor IX deficiency

Frequency About 1:5,000 men About 1:25,000 men About 1:100,000 men
born in the United born in the United born in the United
States About 80% of States Up to 20% of States
people with people with
hemophilia hemophilia

Affected sex
Almost exclusively men Almost exclusively men Men and women alike

Missing factor
protein factor VIII factor IX factor XI
 available
and
the
only
• There is currently no curative treatment thing
that can be done is to correct the intravenously
bleeding tendency by administering
eYO . the IX.
coagulation factor missing prepared
For a few years the purest ity of
factors in human plasma.
Mass factor VII is produced h
in the laboratory. e in
Nowadays there are enormous ction of
experiments through gene
therapy, which create genes in in are capable
certain cells of the
to combine with the existing genetic material, providing the
information that is missing to manufacture the deficient
protein that causes the disease.
 • •h AMIA 4"mm A A"

• Nowadays the survival of a hemophiliac is high, thanks to the intravenous supply

of anti-hemophilic factor. People who suffer from this disease can lead a
completely normal life with proper treatment.
Situations that require going to the hospital:
It is important to know when to go to the hospital and who to contact about a
bleeding problem before it occurs.

• Pain in joints or muscles. Do not wait for the swelling to be visible.

• External bleeding that cannot be stopped or that recurs after first aid
treatment.

• Blood in the urine or stool.

• After a fall with a blow to the head or other head injury, or if there is a
headache or prolonged nausea and vomiting without justified cause.

• Bleeding or swelling in the area around the neck.

• Unexplained abdominal pain.
• It is important when arriving at a hospital center to state the hemophilia
condition and ask for the center's hematologist.
EN
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