HEMOPHILIA

DR. BAZAL BUKHARI

 DEFINITIONS OF RELEVANT
TERMS
 Genetic disease- A genetic disease is a disease
that is caused by a change in your DNA.
 Clotting Factor- Clotting Factor is the part of
the blood that prevent the blood from
continuing to flow.
 Chromosomes-Chromosomes are the DNA that
have been paired off.
 Gene- A gene is a piece of the DNA that
determines a particular trait.
 WHAT IS HEMOPHILIA
 Hemophilia is a genetic disease that causes non-
stop bleeding. This is because there is no clotting
in the blood.
 It is generally passed from mother to son, except
in rare cases.
 The bleeding from Hemophilia can be internal
and cause bruising under the skin.
 Most treatments for Hemophilia are to add
clotting factor to the person’s blood.
 HISTORY

 Hemophilia wasn’t generally known because the people

affected usually died before much was known about it.
 The most famous case of hemophilia, is that of Alexei
Nikolaevich, Tsarevich of Russia. Alexei’s disease was
kept hidden from the public because it would upset the
public to have a Czar that couldn’t lead.
 Hemophilia is not contagious like  Some males with the disorder are
a cold or flu
born to mothers who aren’t
 It is usually inherited, which carriers. In these cases, a
means that it often runs in
families. Hemophilia almost mutation (random change) occurs
exclusively affects boys. in the gene as it is passed to the
 Hemophilia A and Hemophilia B child
are caused by and inherited
defect in a pair of chromosomes.
 The defects affect how much the
clotting factor a person will
produce and hoe the factor will
function
 It is caused by a defective gene
that is unintentionally passed
from mothers to sons via the X
chromosome
CONTI…
 If you have inherited hemophilia, you’re born with the condition. It is
caused by a defect in one of the genes that determine how the body makes
blood clotting factors VIII or IX. These genes are located on the X
chromosomes
 Chromosomes come in pairs.
 Females have two X chromosomes
 Males have one X and one Y chromosome.
 Only the X chromosome carries the genes related to clotting factors.
 A male who has the abnormal gene on his X chromosome will have
hemophilia.
 A female must have the abnormal gene on both of her X chromosomes to
have hemophilia THIS IS VERY RARE!
 A female is a “carrier” of hemophilia if she has the abnormal gene on one
of her X chromosomes.
 Even though you can’t tell if she has the hemophilia gene she is still
carrying it in her X chromosome and can pass it on to her child.
TWO PRIMARY TYPES:

Hemophilia A (classic hemophilia-factor VIII deficiency):

80% of all cases.

Hemophilia B. (Christmas disease-factor IX deficiency).

The classification of the severity of hemophilia has been based

on either clinical bleeding symptoms or on plasma pro-
coagulant levels, which are the most Widely used criteria.
 THE FIRST SIGNS
 First discovered during infancy or early
childhood
 Bleeding into muscle
 Deep bruises after receiving shots
 Prolonged bleeding after male child is circumcised
 Prolonged bleeding after umbilical cord is cut
GENERAL SYMPTOMS

Bleeding into joints/muscle

causes pain and swelling

Frequent nose bleeds and

abnormal bleeding after injury or
surgery

Blood found in urine and easy

bruising
H EMARTHROSIS

Symptoms of bleeding into joints includes:

•Warmth/tingling feeling in joints, known as
aura
•Swelling/inflammation in joints, caused by
repeated episodes of bleeding
•Child/ Infants are reluctant to move arm or
legs due to pain
 BLEEDING INTO
MUSCLES

Symptoms:
 Bruising
 Swelling
 Muscle hardening
 Tenderness
 Pain
Especially when large muscle groups

are affected
 COMPARTMENT
SYNDROME
Complication of bleeding to in certain muscles
which puts pressure on arteries and nerves
 Symptoms:
 Weakness and paleness in affected
extremity
 Swelling and numbness
 Severe pain during movement
 Inability to move an extremity
PARALYSIS
COMPLICATIONS
 Joint contracture(s) and deformities (especially at the
hip, knee, elbow, and ankle joint").
 Hemophiliac arthropathy, which may occur in severe
forms: the articular cartilage softens, turns brown (due to
hemosiderin), and becomes pitted and fragmented.
 Muscle weakness and atrophy around affected joints.

 Peripheral nerve compression by hematoma.

 Postural scoliosis.

 Decreased aerobic fitness.

 Difficulties with ADLs.

TREATMENTS
&
TESTIMONIALS
TREATMENT OVERVIEW
 Genetic
- Only women can be carriers
- Can be determined by a blood test
 Treatment starts at birth

 Donated blood products can be injected aiding the

replacement of absent or abnormal clotting
factors
 *Clotting Factors- prevent major blood loss and
keep bodily complications from bleeding
Hemophilia Care
 Children with Hemophilia can learn
to self-administer their replacement
clotting factors as young as 10 years
old.
When do I treat my Hemophilia?
 Clotting Factors are replaced:

-Everyday at the same time to regulate with

bodily functions (severe cases only)

-On demand when bleeding occurs

-Prior to an event in which bleeding is

possible
CURRENT RESEARCH

 The FDA, Food and Drug Association, has

approved a new drug that would help people with
Hemophilia. The usual treatment, is to give the
person clotting factor.
 This new formula for the clotting factor would
allow the drug to be kept at room temperature.
This makes it easier for small hospitals to keep
the clotting drugs because of their lack of
freezers.
 But there is a negative factor towards it. The
clotting factor can only be kept for two years
instead of three.
PHYSICAL THERAPY MANAGEMENT

Physical therapy for the child with hemophilia is aimed at

maintaining ROM and strength in all joints and at
preventing or diminishing disability. Specific goals include:

 PRICE protocol in case of acute Bleeding:

PRICE (Protection, Rest, Ice, Compression, Elevation)-
PRICE is a treatment many health care professionals
recommend for joint bleeds. It also reduces swelling and
tissue damage when used together with clotting factor
concentrates.
CONT..
Prevention of contractures:
 Manual traction and mobilization.

 Progressive/dynamic splinting.

 Serial casting/drop-out casts.

 Active ROM exercises (passive ROM is generally

contraindicated).
Maintaining strength:
 Isometric strengthening exercises initially, then graded
progressive exercises.
 Exercise in a pool, hot soaks in a tub, or whirlpool
baths. It is easier to move the body in water. Good for
aerobic conditioning.
CONT…
Preventing or diminishing disability:
 Gait training.

 Proprioceptive training.

 Bracing/splints-provides stabilization and

protection.
CONTRAINDICATION/PRECAUTION FOR
HEMOPHILIA PHYSICAL THERAPY
 Thermotherapy-
Heat causes dilatation of blood vessels and
increases blood flow.
 Aggressive exercises which include resisted
exercises
LONG TERM & SHORT TERM EFFECTS
Long Term Short Term

 The people have to  Have to learn to

take medicine for the recognize all of the
rest of their lives. symptoms of their
 Have to be very disease.
careful about injuries.
VIDEO TO BE WATCHED

 https://youtu.be/RNc0yV69-cE
REFERENCES

https://www.physiotherapy-
treatment.com/hemophilia-physical-therapy.html