PCTE Group of Institutes,

Ludhiana

BMLS 6th Sem

BLOOD BANK
P RESENTATION S YNOPSIS

TOPIC: Laboratory diagnosis of Haemophilia and

von_willebrand disease
NAME: Catherin Titos
UNIV.ROLL.NO: .1929422
OFFICIAL E-MAIL ADDRESS:
catherinetitospctebmls@gmail.com

TABLE OF CONTENTS:
• Introduction
• Difference between Haemophilia and
von_willebrand disease
• Sign snd symptoms
• Diagnosis
• Treatment
• Conclusion
BRIEF INTRODUCTION OF TOPIC:-
Haemophilia:

Hemophilia is usually an inherited bleeding disorder in which the

blood does not clot properly. This can lead to spontaneous bleeding as
well as bleeding following injuries or surgery. Blood contains many
proteins called clotting factors that can help to stop bleeding. People
with hemophilia have low levels of either factor VIII (8) or factor IX
(9). The severity of hemophilia that a person has is determined by the
amount of factor in the blood. The lower the amount of the factor, the
more likely it is that bleeding will occur which can lead to serious
health problems.

In rare cases, a person can develop hemophilia later in life.  The

majority of cases involve middle-aged or elderly people, or young
women who have recently given birth or are in the later stages of
pregnancy.  This condition often resolves with appropriate treatment

Von_willebrand:
Von Willebrand disease (VWD) is a blood disorder in which the
blood does not clot properly. Blood contains many proteins that help
the blood clot when needed. One of these proteins is called von
Willebrand factor (VWF). People with VWD either have a low level
of VWF in their blood or the VWF protein doesn’t work the way it
should.

Difference between Haemophilia and Von_willbrand

disease:
While both VWD and hemophilia are bleeding disorders, they are not
the same disease. While VWD affects men and women equally,
hemophilia is more common in men. People with VWD have a
deficiency of VWF and are more likely to experience bleeds in the
lining of the nose, intestines, uterus, and vagina. People with
hemophilia have a deficiency of factor VIII or factor IX and are more
likely to experience bleeding in joints and within muscles.

The causes of VWD:

Most people who have VWD are born with it. It almost always is
inherited, or passed down, from a parent to a child. VWD can be
passed down from either the mother or the father, or both, to the child.

While rare, it is possible for a person to get VWD without a family

history of the disease. This can happen if a spontaneous
mutation occurs. That means there has been a change in the person’s
gene. Whether a child receives the affected gene from a parent or as a
result of a mutation, once the child has it, the child can later pass it
along to his or her children.

Causes of Haemophilia:
Haemophilia is caused by a mutation or change, in one of the genes,
that provides instructions for making the clotting factor proteins
needed to form a blood clot. This change or mutation can prevent the
clotting protein from working properly or to be missing altogether.
These genes are located on the X chromosome. Males have one X and
one Y chromosome (XY) and females have two X chromosomes
(XX). Males inherit the X chromosome from their mothers and the Y
chromosome from their fathers. Females inherit one X chromosome
from each parent.
Hemophilia can result in:
 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

Sign ans symptoms of VWD:

If you have von Willebrand disease, you might have:

 Excessive bleeding from an injury or after surgery or dental

work
 Frequent nosebleeds that don't stop within 10 minutes
  Heavy or long menstrual bleeding
 Heavy bleeding during labor and delivery
 Blood in your urine or stool
 Easy bruising or lumpy bruises

Menstrual signs and symptoms might include:

 Blood clots greater than 1 inch (2.5 centimeters) in diameter

in your menstrual flow
 The need to change your menstrual pad or tampon more
than once an hour
 The need to use double sanitary protection for menstrual
flow
 Symptoms of anemia, including tiredness, fatigue or
shortness of breath

Common signs of hemophilia include:

 Bleeding into the joints. This can cause swelling and pain or
tightness in the joints; it often affects the knees, elbows, and
ankles.
 Bleeding into the skin (which is bruising) or 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.
 Bleeding after circumcision (surgery performed on male babies
to remove the hood of skin, called the foreskin, covering the
head of the penis).
 Bleeding after having shots, such as vaccinations.
 Bleeding in the head of an infant after a difficult delivery.
 Blood in the urine or stool.
 Frequent and hard-to-stop nosebleeds

Diagnosis:
To evaluate you for von Willebrand disease, your doctor will likely
ask you detailed questions about your medical history and check for
bruises or other signs of recent bleeding.

Your doctor will also likely recommend the following blood tests:

 Von Willebrand factor antigen. This determines the level

of von Willebrand factor in your blood by measuring a
particular protein.
 Von Willebrand factor activity. There are a variety of tests
to measure how well the von Willebrand factor works in
your clotting process.
 Factor VIII clotting activity. This shows whether you have
abnormally low levels and activity of factor VIII.
 Von Willebrand factor multimers. This evaluates the
structure of von Willebrand factor in your blood, its protein
complexes and how its molecules break down. This
information helps identify the type of von Willebrand
disease you have.

Diagnosis of Haemophilia:
 Diagnosis includes screening tests and clotting factor tests.
Screening tests are blood tests that show if the blood is clotting
properly. Clotting factor tests, also called factor assays, are
required to diagnose a bleeding disorder. This blood test shows
the type of hemophilia and the severity.

Screening Tests
Complete Blood Count
Activated partial Thromboplastin Time (APTT)Test
This test measures how long it takes for a blood to clot. It measures
the clotting ability of factor VIII(8),IX(9),XI(11)and XII(12)

Clotting Factor Test

Clotting factor test also called factor assays, are reguired to diagnose a
bleeding disorders. This blood test shows the type of haemophilia and
severity
 Treatment:
 Desmopressin. This medication is available as an injection
(DDAVP). It's a synthetic hormone that controls bleeding
by stimulating your body to release more of the von
Willebrand factor stored in the lining of your blood vessels.
Many doctors consider DDAVP the first treatment for
managing von Willebrand disease. It can be used before
minor surgical procedures to help control bleeding. You
might be given a trial of desmopressin to make sure it's
effective for you.
 Replacement therapies. These include infusions of
concentrated blood-clotting factors containing von
Willebrand factor and factor VIII. Your doctor might
recommend them if DDAVP isn't an option for you or has
been ineffective.
Another replacement therapy approved by the Food and
Drug Administration for treating adults 18 and older is a
genetically engineered (recombinant) von Willebrand factor
product. Because recombinant factor is made without
plasma, it can reduce the risk of a viral infection or allergic
reaction.

 Oral contraceptives. In addition to preventing pregnancy,

these drugs can help control heavy bleeding during
menstrual periods. The estrogen hormones in birth control
pills can boost von Willebrand factor and factor VIII
activity.

 Desmopressin. In some forms of mild hemophilia, this hormone

can stimulate the body to release more clotting factor. It can be
injected slowly into a vein or used as a nasal spray.
 Emicizumab (Hemlibra). This is a newer drug that doesn't
include clotting factors. This drug can help prevent bleeding
episodes in people with hemophilia A.
 Clot-preserving medications. Also known as anti-fibrinolytics,
these medications help prevent clots from breaking down.
  Fibrin sealants. These can be applied directly to wound sites to
promote clotting and healing. Fibrin sealants are especially
useful for dental work.
 Physical therapy. It can ease signs and symptoms if internal
bleeding has damaged your joints. Severe damage might require
surgery.
 First aid for minor cuts. Using pressure and a bandage will
generally take care of the bleeding. For small areas of bleeding
beneath the skin, use an ice pack. Ice pops can be used to slow
down minor bleeding in the mouth.

Conclusion

REFERENCES

• https://www.healthline.com/health/blood-
cell-disorders
• https://www.cancer.gov/publications/
dictionaries/cancer-terms/def/red-blood-
cell