BLOOD DISEASES

SICKLE CELL DISEASE

 INTRODUCTION
• Sickle cell disease (SCD) is a group of
genetic disorders resulting from the
presence of a mutated form of
haemoglobin, haemoglobin S (HbS).
• This leads to a tendency of the cells to
assume an abnormal, rigid, sickle-like
shape under certain circumstances.
 INTRODUCTION CONT’
• Sickle-cell disease is associated with a
number of acute and chronic health
problems, such as severe infections,
attacks of severe pain ("sickle-cell crisis"),
and stroke, and there is an increased risk
of death.
 INTRODUCTION CONT’
• Morbidity, frequency of crisis, degree of
anemia, and the organ systems involved
vary considerably from individual to
individual.
 INTRODUCTION CONT’
• Sickle-cell disease occurs when a person
inherits two abnormal copies of the
haemoglobin gene, one from each parent.
Several subtypes exist, depending on the
exact mutation in each haemoglobin gene.
 INTRODUCTION CONT’
• A person with a single abnormal copy
does not experience symptoms and is said
to have sickle-cell trait.
• The most common form of SCD is sickle
cell anaemia
 GENERAL OBJECTIVES
• At the end of the lecture, students should
be able to demonstrate an understanding
of sickle cell disease and be able to
manage a patient with this condition.
 SPECIFIC OBJECTIVES
At the end of the lecture, students should be
able to:
• Define sickle cell disease and sickle cell
anaemia
• Mention the cause of sickle cell disease
• Describe the pathophysiology of sickle cell
disease
 SPECIFIC OBJECTIVES CONT’
• State the signs and symptoms of sickle
cell disease
• Explain the four types of sickle cell crisis
• List the general symptoms of sickle cell
crisis
• Outline the precipitating factors to sickle
cell crisis
 SPECIFIC OBJECTIVES CONT’
• Ddescribe the management of sickle cell
crisis
• Describe the management of sickle cell
disease
• Outline the complications of sickle cell
disease
• State the preventive measures to sickle
cell crisis
 DEFINITION
Sickle cell disease
• Sickle-cell disease (SCD) is a hereditary
blood disorder characterized by an
abnormality in the oxygen-carrying
haemoglobin molecule in red blood cells.
 DEFINITIONS CONT’
Sickle cell anaemia
• Sickle cell anaemia is one of a group of
diseases collectively termed as
haemoglobinopathies, in which the normal
adult haemoglobin A (Hb A) is partly or
completely replaced by abnormal sickle
haemoglobin S (HgbS).
CAUSES OF SICKLE CELL DISEASE

• Heredity because of genetic predisposition

 PATHOPHYSIOLOGY
• Normally, humans have haemoglobin A,
which consists of two alpha and two beta
chains, haemoglobin A2, which consists of
two alpha and two delta chains, and
haemoglobin F, consisting of two alpha and
two gamma chains in their bodies.
• Of these, haemoglobin F dominates until
about 6 weeks of age then A dominates
throughout life.
 PATHOPHYSIOLOGY CONT’
• In Sickle cell disease, there is mutation of
the B-globin chain of the haemoglobin.
• The polar amino acid glutamic acid that is
on position 6 of the B-globin chain is
replaced with the hydrophobic amino acid
valine.
• The B-globin chain is found on
chromosome 11.
 PATHOPHYSIOLOGY CONT’
• The association of the two a-globin
subunits with two mutant B-globin sub units
forms haemoglobin S (HbS).
• Under low oxygen conditions, such as
being at a high attitude, the absence of a
polar amino acid at position 6 of the B-
globin chain promotes the non covalent
aggregation of haemoglobin which distorts
red blood cells into a sickle shape and
decreases their elasticity.
 PATHOPHYSIOLOGY CONT’
• The loss of red blood cell elasticity is the
major cause of sickle cell disease.
• Normal red blood cells are quite elastic,
which allows the cells to deform to pass
through the capillaries.
• In sickle cell disease, low oxygen tension
promotes red blood cell sickling and
repeated episodes of sickling damage the
cell membrane and decreases the cell’s
elasticity.
 PATHOPHYSIOLOGY CONT’
• These cells fail to return to normal shape
when normal oxygen tension is restored.
• As a consequence, these rigid blood cells
are unable to deform as they pass through
narrow capillaries leading to vessel
occlusion and ischaemia.
 PATHOPHYSIOLOGY CONT’
• The actual anaemia of the illness is caused
by haemolysis because of their misshape.
• Although the bone marrow attempts to
compensate by creating new red blood cells,
it does not march the rate of destruction.
• Health red blood cells typically live 90-120
days, but sickle cells only survive for 10-20
days
SIGNS AND SYMPTOMS OF SICKLE
CELL DISEASE
• Pain in the body parts, such as back,
stomach, chest and bones: The pain
results from tissue ischaemia and
infarction.
• Difficulties in breathing: Because of
cardio pulmonary tissue ischaemia and
infarction.
• Headaches: Due to cerebral ischaemia
and infarction.
 SIGNS AND SYMPTOMS CONT’
• Priapism: Because of the blood which is
trapped by the occluded blood vessels
supplying the penis.
• Signs and symptoms of anaemia such
as pallor or fatigue: Due to continued
haemolysis.
• Visual disturbances: Due to cerebral
hypoxia and ischaemia.
 SIGNS AND SYMPTOMS CONT’
• Restlessness: Due to pain and
disconforts.
• Haematuria: Due to renal damage
following repeated tissue infarction.
• Cyanosis: Due to tissue hypoxia
• Jaundice: Due to occlusion of the blood
vessels supplying blood to the liver. This
causes ischaemia to the hepatic tissue
resulting in obstructive Jaundice.
 SICKLE CELL CRISES
• A sickle cell crisis is a painful episode that
occurs in people who have sickle cell
anaemia and it occurs when sickle-shaped
red blood cells (RBCs) block blood
vessels so that blood and oxygen do not
reach the tissues resulting in pain.
SICKLE CELL CRISES CONT’
• A sickle cell crisis can also damage the
tissues and cause organ failure, such liver
or kidney failure.
• A sickle cell crisis can become life-
threatening.
• Most episodes of sickle-cell crises last
between five and seven days.
SICKLE CELL CRISES CONT’
• The most common sickle cell crises are:
• Vaso-occlusive crisis
• Aplastic crisis
• Sequestration crisis
• Haemolytic crisis
SICKLE CELL CRISES CONT’
a) Vaso-occlusive crisis
• The Vaso-occlusive crisis is caused by
sickle-shaped red blood cells that obstruct
capillaries and restrict blood flow to an
organ resulting in ischaemia, pain,
necrosis, and often organ damage.
SICKLE CELL CRISES CONT’
• A child experiencing vaso-occlussive crisis
alone may have localised or generalised
pain, acute abdominal pain from visceral
hypoxia or gall stones, Priapism
(unwanted prolonged painful penile
erection) and arthralgia.
• The pain is often migratory, with the
presence of low grade fever but without an
exacerbation of anaemia.
SICKLE CELL CRISES CONT’
• Vaso-occlusive crisis can result in a variety
of skeletal problems such as bone pain
and swelling over the joints.
• Bone pain is due to bone marrow
infarction especially of the short bones.
• Swelling over the joints especially the soft
tissues over the hands and feet can occur
from erythrostasis with sickle cells.
SICKLE CELL CRISES CONT’
b) Applastic crisis
• Aplastic crisis is a type of sickle cell crisis
in which there is diminished red blood cell
production producing pallor, tachycardia,
and fatigue.
SICKLE CELL CRISES CONT’
• This crisis is normally triggered by
parvovirus B19, which directly affects
production of red blood cells by invading
the red cell precursors and multiplying in
and destroying them.
SICKLE CELL CRISES CONT’
• Parvovirus infection nearly completely
prevents red blood cell production for two
to three days.
• Reticulocyte counts drop dramatically
during the disease (causing
reticulocytopenia), and the rapid turnover
of red cells leads to the drop in
haemoglobin.
SICKLE CELL CRISES CONT’
• This crisis takes 4 days to one week to
disappear.
• Most patients can be managed
supportively; some need blood
transfusion.
SICKLE CELL CRISES CONT’
Splenic sequestration crisis
• Splenic sequestration crisis is caused by
the pooling of large quantities of blood
usually in the spleen and infrequently in
the liver which causes a decrease in blood
volume and ultimately shock.
SICKLE CELL CRISES CONT’
• The splenic crisis may be acute or chronic.
• The chronic manifestation is termed as
hypersplenism.
• The acute form most commonly occurs in
children between 2 months and 5 years
and may result in death from profound
anaemia and cardio vascular collapse.
SICKLE CELL CRISES CONT’
• Sequestration crises are considered an
emergency. If not treated, patients may die
within 1–2 hours due to circulatory failure.
• Management is supportive, sometimes
with blood transfusion.
• These crises are transient, they continue
for 3–4 hours and may last for one day.
 SICKLE CELL CRISES CONT’
Haemolytic crisis
• Haemolytic crisis is a type of sickle cell
crisis in which there is an accelerated rate
of red blood cell destruction characterized
by anaemia, Jaundice and reticulocytosis.
SICKLE CELL CRISES CONT’
• This is particularly common in patients
with coexistent glucose-6-phosphate
dehydroginase (G6PD) deficiency, viral
illnesses or transfusion reactions.
• Management is supportive, sometimes
with blood transfusions.
 GENERAL SIGNS AND SYMPTOMS OF
SICKLE CELL CRISIS

• Fever
• Pain
• Weakness or fatigue
• Abdominal pain and swelling
• Headaches
 SIGNS AND SYMPTOMS CONT’
• A painful, erect penis (priapism)
• Fast heartbeats
• Shortness of breath
 PRECIPITATING FACTORS TO
SICKLE CELL CRISIS
Dehydration
• With sickle cell disease the kidneys are
unable to save as much body fluids as
people who do not have the disease.
• This predisposes them to dehydration.
Dehydration leads to metabolic acidosis.
• The covered blood ph causes the red
blood cells to become sickle shaped.
STRETCH TIME
PRECIPITATING FACTORS CONT’

Infection
• Infection increases vaso metabolic rate
and hence a lot of oxygen demands.
• Under low oxygen concentration, the red
blood cells become sickle shaped and
occlude the small blood vessels leading to
tissue ischaemia and infarction.
PRECIPITATING FACTORS CONT’
• Hypoxia: Hypoxia happens when the
body does not get enough oxygen for
example hard exercises and being at high
attitude.
• Under low oxygen concentration, the red
blood cells will become sickle shaped and
occlude the small blood vessels leading to
tissue ischaemia and infarction.
PRECIPITATING FACTORS CONT’

Cold temperature
• Being in cold places may triger a sickle
cell crisis for some people as this will lead
to constriction of the blood vessels.
• This will lead to inadequate oxygenation of
the blood causing the red cells to become
sickle shaped.
PRECIPITATING FACTORS CONT’

Surgery
• Having surgery or a medical procedure
puts a strain on the body and this can
trigger a sickle cell crisis.
• Stress
 MANAGEMENT OF SICKLE CELL CRISIS

IV fluids such as ringers lactate or

normal saline
• Treating dehydration will help dilute the
blood and help reduce sickling of RBCs.
Oxygen
• Helps increase oxygen levels in the blood
and makes it easier for a person to
breathe.
 MANAGEMENT CONT’
• A blood transfusion replaces blood with
RBCs that are not sickle shaped.
• Surgery may be done to remove part of
the spleen.
 Management of sickle cell disease
Investigations/diagnosis
• Blood will be collected for haemoglobin levels
that will be low
• Blood slide will be taken for malaria parasites to
rule out malaria
• Bone marrow aspiration that will review abnormal
immature cells
• Full blood count to exclude any infections
• Chest x-ray to exclude chest involvement
 MANAGEMENT CONT’
Treatment
• Antibiotics such as x-pen 50, 000IM/IV
in case of any infection
• In severe pain strong analgesics such
as pethidine 50mg im relieve pain
• As pain gets less mild analgesics such
as aspirin 150-300mg TDS orally
 MANAGEMENT CONT’
• Oxygen therapy to control sickling and
to prevent further sickling
• Fluid therapy: Give a lot of IV fluids
that is normal saline or ringers lactate
3 litres in 24 hours to dilute the blood
and to prevent dehydration.
 MANAGEMENT CONT’
• Give oral fluids when stable
• Hydroxyurea
• 15mg/kg per day to help the body to make
red blood cells that are less likely to sickle
and this minimises the number of
episodes.
 Nursing management

Aims of management
• To relieve pain
• To prevent complications
• To promote comfort
• To relieve anxiety
• To offer IEC to the patient and relatives
 NURSING MANAGEMNT
CONT’
Environment
• Reverse barrier nurse the patient as he is
susceptible to infections.
• Nurse the patient from the acute bay for
closed observations.
 NURSING MANAGEMNT CONT’
• Nurse from a warm environment as chilling
will aggravate a crisis.
• The room should be well ventilated to
allow free circulation of air.
• The room should be well lit for easy
observation.
 NURSING MANAGEMNT CONT’

Psychological care
• Explain the condition to the patient and
relatives that is, causes, signs and
symptoms disease progress and mode of
treatment to ally anxiety and to gain
patients co-operation.
• Everything done on the patient should be
explained to allay anxiety and to gain their
cooperation.
 NURSING MANAGEMNT
CONT’
• Assure the patient and relatives that
everything possible is being done by the
health team to help them.
• Introduce the patient to someone whose
case is well managed as this will help
increase hope in the patient.
• Offer diversional therapy.
 NURSING MANAGEMNT CONT’

Position
• In the acute stages, prop up the patient to
relieve dyspnoea.
• As the condition improves the patient can
assume any comfortable position.
 NURSING MANAGEMNT CONT’

Rest/pain relief
• Provide a noise free environment.
• Procedures should be done collectively so
that there is minimal disturbances to the
patient.
• Apply warm compresses on the painful
areas to relieve pain.
 NURSING MANAGEMNT CONT’
• Offer a bed cradle to keep off the weight of
the linen from the painful areas.
• Give prescribed sedatives such as
diazepam 5mg nocte to promote rest.
• As the condition improves allow patient to
get out of bed and sit in the chair or walk
around to promote circulation.
 NURSING MANAGEMNT CONT’
• Vital signs will be done four hourly, that is,
temperature to rule out infection.
• Respirations to exclude difficulties in
breathing and blood pressure to rule out
cardio vascular system complications such
as hypotension.
• Observe the skin for cyanosis if improving
or not.
• If getting worse, oxygen should be offered.
 NURSING MANAGEMNT CONT’
• Observe the facial expression, if in pain
offer prescribed analgesics such as aspirin
to relive pain.
• The feeding patterns should be observed
so that measures are taken to promote
appetite, such as giving small frequent
meals.
 NURSING MANAGEMNT CONT’
• Observe the skin for any presence of
oedema.
• Observe pressure areas to exclude
pressure sure formation.
• Observe the intake and output to prevent
fluid overload.
 NURSING MANAGEMNT CONT’
• If on blood transfusion, the patient should
be observed for any reactions to blood
transfusion such as skin rashes or raised
temperatures.
 NURSING MANAGEMNT CONT’
• If present, the blood transfusion will be
discontinued.
• The general condition should be observed
to see whether it is improving or not.
• Observe the skin for pallor and jaundice to
see whether they are getting worse or not.
 NURSING MANAGEMNT CONT’

Nutrition
• A well balance diet should be given rich in
proteins such as beans to help in repair of
worn out tissues.
• Vitamins such as vegetables and fruits to
boost the immune system.
• Carbohydrates such as nshima to provide
energy needed for metabolic processes.
• Give a lot of fluids orally to prevent
dehydration.
 NURSING MANAGEMNT CONT’
• Give food rich in iron such as liver, green leafy
vegetables to boost the haemoglobin levels.
• Give food rich in roughage to prevent
constipation as straining at stool will increase
work load on the heart.
• Serve meals attractively and small frequently
amounts to stimulate appetite.
 NURSING MANAGEMNT CONT’
Hygiene
• Offer the patient a bath to remove dirt and to
prevent infection.
• Do nail care to prevent auto infection and
bruising.
• Do oral toilet to remove dirt and to prevent
oral infections.
• Soiled linen or clothes should be changed to
promote comfort and to prevent infection.
 NURSING MANAGEMNT CONT’

Elimination
• Ensure that the patient is opening bowels
and passing urine by offering him a bed
pan and urinal in the acute stages.
• Provide a lot of fluids and roughage such
as vegetables to prevent constipation.
 IEC

• Educate the patient and the care taker on

the importance of taking a lot of fluids at
least 3 – 4 litres in 24 hours to prevent
dehydration which can precipitate a crisis.
• 2. Educate the patient and his family to
seek early treatment whenever he has any
infections as these can lead to a sickle cell
crisis.
 IEC CONT’
• Rest and exercises: Educate the patient and
the care taker to balance rest and exercise.
Too much exercises will increase oxygen
demand that will lead to a crisis. For example
playing football.
• Educate the patient and the care taker to
avoid sudden changes in air pressure or lack
of oxygen such as mountain climbing as this
can increase oxygen demand and lead to a
crisis.
 IEC CONT’
• Diet: Encourage the patient and the care
taker to take a healthy diet rich in iron,
vitamins, protein carbohydrates and
roughage to boost immunity and to
promote blood formation and to prevent
constipation.
 IEC CONT’
• Stress management: Educate the patient
and care taker on stress management
such as diversional therapy like watching
nice movies on the television or reading
interesting magazines. Frustration, anger
depression will stimulate stress hormones
and this will lead to a crisis.
 IEC CONT’
• Educate the patient and care taker on the
need to keep warm all the times as
exposure to extreme cold will aggravate a
crisis.
 COMPLICATIONS
Stroke
• A stroke can occur if sickle cells block
blood flow to an area of the brain.
Acute chest syndrome
• This life-threatening complication of sickle
cell anaemia which is characterized by
chest pain, fever and difficulty breathing.
 COMPLICATIONS CONT’
• Acute chest syndrome can be caused by a
lung infection or by sickle cells blocking
blood vessels in the lungs.
 COMPLICATIONS CONT’
Organ damage:
• Sickle cells can block blood flow through
blood vessels, immediately depriving an
organ of blood and oxygen.
• In sickle cell disease, blood is also
chronically low in oxygen.
• Chronic deprivation of oxygen-rich blood
can damage nerves and organs in the body,
including your kidneys, liver and spleen.
 COMPLICATIONS CONT’
Blindness
• Tiny blood vessels that supply the eyes
can get blocked by sickle cells.
• Over time, this can damage the portion of
the eye that processes visual images
(retina) and lead to blindness.
 COMPLICATIONS CONT’
Skin ulcers
• Sickle cell anaemia can cause open
sores, called ulcers, on the legs due to
lowered immune system.
 COMPLICATIONS CONT’
Priapism
• As occurs in other parts of the body, sickle
cells can block the blood vessels in the
penis.
• This can damage the penis and eventually
lead to impotence.
 COMPLICATIONS CONT’
Pulmonary hypertension
• Increased pressure on the pulmonary
artery can lead to strain on the right
ventricle and a risk of heart failure
Chronic renal failure
• This can be due to sickle-cell nephropathy
 PREVENTION OF SICKLE CELL
CRISIS
1. Encourage the patient to take vitamins
and minerals as directed
• Folic acid can help prevent blood vessel
problems that can come with sickle cell
anemia.
• Zinc may decrease how often one can
have pain.
 PREVENTION CONT’
2. Drink liquids as directed
• Dehydration can increase the risk for a
sick cell crisis.
• Fluids will help dilute the blood and
prevent dehydration.
 PREVENTION CONT’
Balance rest and exercise
• Rest during a sickle cell crisis is very
important.
• Vigorous activities will increase oxygen
demand and lead to sickling.
• Over time, increase the activity to a
moderate amount. Exercise regularly
 PREVENTION CONT’
Stay out of the cold
• Exposure to cold will cause vaso-
constriction of the blood vessels.
• This will lead to inadequate oxygenation of
the blood causing the red cells to become
sickle shaped.
• Early treatment of infections
 PREVENTION CONT’
• Ask about what vaccinations you need
Vaccinations can help prevent a viral
infection that may lead to a sickle cell
crisis.
• Get a flu shot every year as directed. You
may need pneumonia vaccines every 5
years.
• Avoid stressful situations
 CONCLUSION
• Sickle cell disease is a hereditary life long
disorder which is frequently associated
with crisis.
• With prompt management, the disease
can be controlled and an individual can
lead normal life.
ZIKOMO