Hemophilia

R Dhake, Asst. Professor, RCN, Bhilwara(RAJ) 1

 Introduction
• Hemophilia is an inherited bleeding disorder in which the
blood does not clot normally due to a lack of clotting
protein
• Hemophilia is passed from parents to children through
genes.
• Hemophilia affects all races equally
• Hemophilia can be mild, moderate or severe, depending
on the level of clotting protein in the blood.
R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
R Dhake, Asst. Professor, RCN, 4
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Cont… Introduction

• Hemophilia A is an X-linked, recessive disorder

caused by deficiency of functional plasma clotting
factor VIII (FVIII), which may be inherited or
arise from spontaneous mutation.

R Dhake, Asst. Professor, RCN,

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Bhilwara(RAJ)
 Type
• Hemophilia A (Factor • Hemophilia B (Factor IX
VIII deficiency) deficiency)
– Type A hemophilia occurs – Type B hemophilia occurs
in children who do not have in children who do not have
enough of the protein called enough of the protein called
Factor VIII (Factor 8). Factor IX (Factor 9).

Classical Christmas
hemophilia disease
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R Dhake, Asst. Professor, RCN, Bhilwara(RAJ)
• Hemophilia C

– in which signs and symptoms are often mild, is

caused by insufficient clotting factor XI.

R Dhake, Asst. Professor, RCN,

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Cont…

• Hemophilia is classified as mild, moderate, or severe,

based on the amount of the clotting factor in the person's
blood.
• If someone produces only 1% or less of the affected
factor, the case is called severe.
• Someone that produces 2% to 5% has a moderate case,
and someone that produces 6% to 50% of the affected
factor level is considered to have a mild case of
hemophilia.
R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
Severe haemophilia patients have less than 1
% of factor VIII or IX

Moderate haemophilia have 1-5% of factor

VIII or IX

Mild have greater than 5 – 40% of factor VIII

or IX
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R Dhake, Asst. Professor, RCN, Bhilwara(RAJ)
• Haemophilia A (clotting factor VIII deficiency),
which is more common and occurs in about 1 in
5,000 births.

• Haemophilia B (factor IX deficiency) is less

common and occurs in around 1 in about 20,000
births.

R Dhake, Asst. Professor, RCN,

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Bhilwara(RAJ)
R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
 How to
transmit
R Dhake, Asst. Professor, RCN,
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R Dhake, Asst. Professor, RCN,
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R Dhake, Asst. Professor, RCN,
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R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
R Dhake, Asst. Professor, RCN,
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 Symptoms
• The most common symptoms of hemophilia in children
are excessive bleeding when easy bruising.

• The extent of bleeding depends on the severity of

hemophilia

• Symptoms of hemophilia in children may include:

• bruises from small accidents, which may result in large

hematomas (collection of blood under the skin that cause
swelling) R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
Cont…

– nosebleeds

– bleeding in the mouth or gums from minor trauma or

while brushing teeth

– blood in the urine or stool

– muscle bleeds causing pain and swelling

– joint bleeds causing pain, swelling and immobility

– internal bleeding such as head bleed, which can be

life-threatening
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R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
• General:
– Weakness,
– Orthostasis ,
– Tachycardia,
– Tachypnea
• Musculoskeletal (joints):
– Tingling,
– cracking,
– warmth,
– pain, stiffness, and
– refusal to use joint (children)
R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
• CNS:
– Headache,
– stiff neck,
– vomiting, lethargy,
– irritability, and Hematemesis is the
– spinal cord syndromes the production
vomiting of dark
of blood sticky
which
faeces
may be containing
red or lookpartly
like
• Gastrointestinal: digested blood, as a result of
coffee grounds
internal bleeding or the
– Hematemesis,
swallowing of blood.
– melena,
– red blood per rectum, and
– abdominal pain
R Dhake, Asst. Professor, RCN,
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Bhilwara(RAJ)
• Genitourinary:
– Hematuria,
– renal colic, and A painful and
Epistaxis dangerous
is defined as
Acondition
region ofcaused
injuredby
bleeding from
– post circumcision bleeding tissue or skin in whichthe
pressure build-up from
• Other: nostril, nasal cavity, or
blood capillaries
internal bleedinghave
or
nasopharynx
– Epistaxis, swelling of tissues.
been ruptured
– oral mucosal hemorrhage,
– hemoptysis,
– dyspnea (hematoma leading to airway obstruction),
– compartment syndrome symptoms, and
– contusions
– excessive bleeding with routine dental procedures
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 Diagnosis

• Including a complete blood count (CBC),

• Prothrombin time (PT),

• Activated partial thromboplastin time (PTT),

• Factor VIII level, and factor IX level.

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Cont… Diagnostic Evaluation

• Normal values for FVIII assays are 50-150%.

Values in hemophilia A are as follows:

• Mild: >5%

• Moderate: 1-5%

• Severe: <1%

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 Treatment & Care
• The treatment of hemophilia may involve the
following:
– Management of hemostasis
– Management of bleeding episodes
– Use of factor replacement products and adjuvant
medications
– Treatment of patients with factor inhibitors
– Treatment and rehabilitation of patients with
hemophilia
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Bhilwara(RAJ)
 Treatment & Care
• Treatment of hemophilia depends on the type and
severity, with the goal of preventing complications
associated with excessive bleeding. Factor
Replacement Therapy is the standard of care.

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Cont…

• During the course of treating the hemophilia,

child’s doctor will recommend:
– giving routine immunizations subcutaneously (under
the skin) in the muscle to prevent deep muscle bleeds?

– avoiding aspirin and ibuprofen, as well as products

containing them, since they have been linked to
bleeding problems

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Cont…

• getting frequent follow-up care, including regular

assessment of the joints; children who experience
bleeding into the joints may require physical therapy

• Supportive measure
• Rest

• Immobilization of joint

• Application of local cold and pressure bandage with

local application of thrombin powder.

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R Dhake, Asst. Professor, RCN,
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Cont…

• Prophylactic measures to be taken to prevent

complication.
• Parent teaching is important regarding preventing
injury, avoidance of IM injection, immunization
against Hep B, Blood safety measure to prevent
transfusion – related- infection.
• Genetic counseling and antenatal diagnosis should be
done.

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Bhilwara(RAJ)
• Lifestyle and home remedies:-
– Exercise regularly

– Avoid certain pain medications.

– Avoid blood-thinning medications

– Practice good dental hygiene

– Protect your child from injuries that could cause

bleeding.
• Kneepads, elbow pads, helmets and Safety belts all may help
prevent injuries from falls and other accidents.

• Keep home free of furniture with sharp corners.

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Bhilwara(RAJ)
• Deep internal bleeding
• Damage to joints.
• Infection
• Adverse reaction to clotting factor treatment
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R Dhake, Asst. Professor, RCN,
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