Sickle Cell

Anaemia
 Introduction
 Hemoglobin Beta Gene (HBB) also
known as Beta Globin is a protein
that resides in the red blood
cells. The HBB is 146 amino acids
long and its molecular weight is
15,867 Daltons. The molecules of
the hemoglobin are responsible
to carry oxygen through the
body.
 The HBB is found in part 15.5
of the chromosome 11.
Why sickle cell
• Glutamic acid is
substituted for valine
• Allowing the
polymerization of sickle
hemoglobin when
deoxygenated
 Normal VS sickle
Normal Sickle
• Disc-Shaped • Sickle-Shaped
• Deformable • Rigid
• Life span of 120 days • Lives for 20 days or less
 Definition
• Sickle Cell Anemia is a
hereditary disease which is
cause by a disorder in the
blood, a mutation in the
Hemoglobin Beta Gene which
can be found in the
chromosome 11.
• This disease causes the body
to make abnormally shapes
red blood cells.
• A normal red blood cell is
shaped as a round donut
while the abnormal red blood
cell has a “ C “ form.
 Sickle cell anemia
A serious condition in which red
blood cells can become sickle-shaped
Normal red blood cells are smooth
and round. They move easily through
blood vessels to carry oxygen to all
parts of the body.
Sickle-shaped cells don’t move easily
through blood. They’re stiff and
sticky and tend to form clumps and
get stuck in blood vessels.
The clumps of sickle cell block blood
flow in the blood vessels that lead to
the limbs and organs. Blocked blood
vessel can cause pain, serious
infection, and organ damage.
Normal and sickle red blood cells in
blood vessels
 Sickle cell anaemia VS sickle cell
trait
• People who have sickle cell anemia are born with it;
means inherited, lifelong condition.
• They inherit two copies of sickle cell gene, one from
each parent.
• Sickle cell trait is different from sickle cell anemia.
People with sickle cell trait don’t have the condition,
but they have one of the genes that cause the
condition.
• People with sickle cell anemia and sickle cell trait can
pass the gene on when they have children
 Inheritance of Sickle Cell Anemia
• If one parent has sickle cell
anaemia (HbSS) and the
other is completely
unaffected (HbAA) then all
the children will have sickle
cell trait.
• None will have sickle cell
anemia.
• The parent who has sickle cell
anemia (HbSS) can only pass
the sickle hemoglobin gene to
each of their children
 Inheritance of Sickle Cell Anemia
• If both parents have sickle
cell trait (HbAS) there is a
one in four (25%) chance that
any given child could be born
with sickle cell anemia.
• There is also a one in four
chance that any given child
could be completely
unaffected.
• There is a one in two (50%)
chance that any given child
will get the sickle cell trait.
 Why Anaemia
Anemia is a condition in which a person’s blood has a lower than
normal number of red blood cells, or the red blood cells don’t
have enough hemoglobin. Hemoglobin is an iron-rich protein that
gives blood its red color and carries oxygen from the lungs to
the rest of the body.

Normal red blood cells last about 120 days in the bloodstream
and then die. Their main role is to carry oxygen, but they also
remove carbon dioxide (a waste product) from cells and carry it
to the lungs to be exhaled.

In sickle cell anemia, a lower-than-normal number of red blood

cells occurs because sickle cells don’t last very long. Sickle cells
die faster than normal red blood cells, usually after only about
10 to 20 days. The bone marrow can’t make new red blood cells
fast enough to replace the dying ones. The result is anemia.
 Signs And Symptoms
Individual signs and symptoms varies.
Some have mild symptoms, others
have very severe symptoms and may
be hospitalized for treatment
Present at birth, many infants
doesn’t show signs until after 4
months of age
Anemia: Fatigue (tiredness), pale
skin and nail beds, jaundice, and
shortness of breath
Pain (Sickle Cell Crisis): Sudden
episode of pain throughout the body.
Common sites: bones, lungs, abdomen,
and joints. Lack of blood flow can
cause pain and organ damage.
• Sequestration crisis:
o Massive hepatosplenomegaly with peripheral failure may
be observed due to pooling of large amounts of blood in
the liver and spleen.

Pain (Sickle Cell Crisis)

Sudden episodes of pain throughout the body are a

common symptom of sickle cell anemia and are often
referred to as “sickle cell crises.”

A sickle cell crisis occurs when the red blood cells sickle
(become “C” shaped) and stick together in clumps. The
clumps block the flow of blood through the small blood
vessels (capillaries) in the limbs and organs.
 Complications
• Hand-Food Syndrome
• Splenic Crisis
• Infections
• Acute Chest Syndrome
• Delayed growth and puberty in children
• Stroke
• Eye problem
• Priapism
• Gallstone
• Ulcers on the legs
• Pulmonary Arterial Hypertension
• Multiple Organ Failure
 Management
• Health maintenance
• Infection prevention
• Pain management
• Sickle emergencies
• Chronic disease management
 Health Maintenance
• Frequent visits: every 3 to 6 months
• Immunizations
o Routine immunizations
o Hib- 6 months and older
o 23 valent Pneumovax at five years
• Penicillin prophylaxis beginning no later than two
months
• Nutrition and fluids
o Folate supplementation is controversial
• Physical exam with attention to:
o Growth and development, jaundice, liver/spleen size, heart murmur of
anemia, malocclusion from increased bone marrow activity, delayed puberty
• Lab evaluations:
o CBC with differential and reticulocyte count, urinalysis, renal & liver
function
 Current Recommendation
• Penicillin Prophylaxis: SS, SbºThalassemia
o 2 months to 3 years: 125 mg PO BID
o Over 3 years: 250 mg PO BID
• When to discontinue is controversial
• Penicillin Prophylaxis: SC and Sb+ Thalassemia
o SC warrants penicillin prophylaxis similar to SS
o Sb+ Thalassemia: penicillin prophylaxis can be
safely discontinued at 5 years
• Routine use in infants and children is controversial
• Special Circumstances
o History of repeated sepsis, surgical splenectomy
 Eye Examination
Retinal vessel disease
o Incidence 33% in
hemoglobin SC
o Incidence 3% in SS
• Annual evaluation Sea Fan
after age 10 years
by ophthalmologist
o Laser
photocoagulation for Salmon Patch: SC
vessel disease
 Emergencies

• Fever/infection
• Acute chest syndrome
• Eye trauma (hyphema)
• Priapism
• Stroke
• Splenic sequestration
• Severe pain
 Fever and infection
• Fever > 38.5° C (101°F) • Indications for
is an EMERGENCY hospitalization & IV
antibiotics:
• Basic laboratory
-Child appears ill
evaluation:
-Any temperature >
o CBC with differential and
40°C
reticulocyte count, blood,
urine, and throat -Abnormal laboratory
cultures, urinalysis, chest values
x-ray • Start IV antibiotics
IMMEDIATELY if child
appears ill or
temperature > 40°C (DO
NOT WAIT FOR LABS)
 Acute Chest Syndrome
Clinically:
Acute onset of fever, respiratory symptoms,
new infiltrate on chest x-ray
Causes
o Infection
o Fat emboli
o Lung infarct
 Eye Trauma
Get sickle prep -rapid Get sickle prep -rapid
test- if sickle status test- if sickle status
unknown unknown
Complications if untreated: Complications if
-glaucoma, untreated:
-optic nerve atrophy, -glaucoma,
-retinal artery blockage -optic nerve atrophy,
-retinal artery blockage
 Priapism
Treatment is difficult
o Opioid pain medication
o Intravenous fluids
o Aspiration and
irrigation of the
corpus cavernosum
o Surgery
o Blood Transfusions
• Impotence with severe
disease or recurrent
episodes
Urethra
Corpus cavernosum
 STROKE
Any acute neurologic symptom other than mild headache, even if transient,
requires urgent evaluation.

• Historically 8 to 10% of
children with SS

• “Silent Stroke” in 22% of

children with hemoglobin SS

Treatment: Chronic transfusion therapy to maintain sickle

hemoglobin at or below 30%
 Splenic Sequestration

• Sudden trapping of blood within

the spleen
• Usually occurs in infants under
2 years of age with SS
• Spleen enlarged on physical
exam, may not be associated
with fever, pain, respiratory, or
other symptoms
• Circulatory collapse and death
can occur in less than thirty
minutes
 Treatments For Splenic
Sequestion
• Intravenous fluids
o Maintain vascular volume
• Cautious blood transfusion
o Treat anemia, sequestered
blood can be released from
spleen
• Spleen removal or
splenectomy
o If indicated
 Pain Management

Acute pain
• Hand-foot syndrome
(dactylitis)
• Painful episodes:
vasoocculsion
• Splenic sequestration
• Acute chest syndrome
• Cholelithiasis
• Priapism
• Avascular necrosis
• Right upper quadrant
syndrome
Pain is an emergency
Hospital evaluation:
• Hydration: 1.5 times maintenance unless acute chest
syndrome suspected
• Assess pain level and treat
o Do not withhold opioids
o Frequently reassess pain control
• Assess for cause of pain/complications
• Moderate-severe pain
o Opioids are first-line treatment
o Morphine sulfate or hydromorphone
o Meperidine NOT recommended
• (Metabolite causes seizures & renal toxicity)
• Moderate or less severe pain
o Acetaminophen or NSAID's in combination with opioids
o Other adjuvant medications (sedatives, anxiolytics)
• May increase efficacy of analgesics
Hand Foot Syndrome -
Dactylitis
• Early complication of sickle
cell disease
• Highest incidence 6 months
to 2 years
• Painful swelling of hands and
feet
• Treatment involves fluids
and pain medication
• Fevers treated as medical
emergency
 Renal Disease
• Renal findings
o Decreased ability to
concentrate urine
o Decreased ability to excrete
potassium
o Inability to lower urine pH
normally
o Hematuria / papillary necrosis
• Risk factors for progressive
renal failure
o Anemia, proteinuria, hematuria
 Gall Bladder and Liver
• Gall stones and biliary sludge
o Monitor by ultrasound every 1-2 years
• Cholestasis
o May progress, leading to bleeding disorders
or liver failure
• Iron overload
o Due to chronic transfusions
• Chronic hepatitis
 Bone Disease Diagnosis and
Treatment
• Avascular necrosis of hips and shoulders
o Index of suspicion
• Persistent hip or shoulder pain
• Plain film or MRI
• Treatment
o Conservative
• NSAID’s and 6 weeks of rest off affected limb
• Physical therapy
 Chronic Complication
• Anemia/Jaundice
• Brain Damage/Stroke
• Kidney failure
• Decreased lung function
• Eye disease (bleeding, retinal detachment)
• Leg ulcers
• Chronic pain management
 Anemia and jaundice

• Common and starting in

the first year of life
• Decreased lifespan of
sickle red cells
o Hemolysis
o Anemia
o Hyperbilirubinemia
o Reticulocytosis
 Stroke
• Intracranial hemorrhage
o More common in adults
• Sequela overt and “silent
strokes”
o Paralysis: overt stroke
o Neuropsychologic changes:
both overt and silent
strokes
• Visual-spatial impairment
• Impaired memory
• Poor impulse control
 Leg Ulcer
• Occurs in about 25% of all
hemoglobin SS patients
• Predominantly males
o Incidence increased with
• Age
• Decreased hemoglobin
o Incidence decreased with
alpha thalassemia
• Recurrence rate is ~ 75%
 Chronic Pain
• Pain lasting >3 to 6 months
• Patients should receive
comprehensive psychologic
and clinical assessment
• Treatment
o Analgesics
o Hydroxyurea
o TENS units
o Relaxation techniques
o Physical and occupational
therapy
Adolescents and Transition of Care
• Young adults (>20 years) with frequent pain crises at
greatest risk for early death
• Barriers to care for young adults
o Lack of adult SCD providers
o Loss of medical coverage
o Developmental (level of independence, denial of chronic illness)
o Ineffective coping skills (passive versus active)
• Develop explicit plan for transition

• Team approach- pediatric and adult providers, social work,

school/vocational staff, support groups

• Plan gradual transition (start 1 year before)

• Continue communication between pediatric & adult providers after

transition
 Genetic Counseling
• Who should receive counseling?
-Parents of newborns with sickle disorders or traits
-Pregnant women/ prenatal counseling
• What is the purpose of counseling?
-Education
-Informed decision-making
• Content should include:
-Genetic basis, chances of disease or trait (potential
pregnancy outcome), disease-related health
problems, variability/unpredictability of disease,
family planning, average life span
 Treatments
Effective treatments are available to help relieve the
symptoms and complications of sickle cell anemia, but
in most cases there’s no cure.
The goal is to relieve the pain; prevent infections, eye
damage, strokes and control complications if they
occur.
Pain medicine: acetaminophen, nonsteroidal anti-
inflammatory drugs (NSAIDs), and narcotics such as
meperidine, morphine, oxycodone, and etc.
Heating pads
Hydroxyurea, Folic Acid
Blood Transfusions
 Prevention
Identify what can trigger the “Crisis” such as stress,
avoid extremes of heat and cold weather, don’t travel
airplane that is not cabin pressurized
Maintain healthy lifestyle habits
 Eating healthy
 Avoid dehydration
 Exercise regularly
 Get enough sleep and rest
 Avoid alcohol and don’t smoke
Regular medical checkups and treatment are
important
 Nursing Management
• Specific care is taught to the parents:
1. Need for regular supervision
2. Prevention of sickling by promoting hydration, preventing hypoxia
during dental or surgical procedures and preventing infection
3. Observation of the complication n of disease
4. Prevention of psychological problems

• Care during crisis:

o Minimization of energy expenditure and use of O2
o Promotion of hydration
o Replacement of electrolytes and blood
o Relief of pain
o Administration of antibiotics
o Management of surgical intervention observation after complication like
o Infections, shock, profound anemia, CHF, splenic rupture, bone changes.