Sickle cell Anemia

By Blandine Alexandre RN BSN

www.youtube.com/watch?v=R4-c3hUh
hyc&feature=youtu.be

Autosomal Recessive Inheritance

In autosomal recessive inheritance, two copies of a disease

allele are required for an individual to be susceptible to
expressing the phenotype.
Typically, the parents of an affected individual are not
affected but are gene carriers.
With each pregnancy of carrier parents:
There is a one in four (25%) chance the offspring will
inherit two copies of the disease allele and will therefore
have the phenotype.
There is a one in two (50%) chance the offspring will
inherit one copy of the disease allele and will be a carrier.

As with autosomal. There is a one in four (25%)

chance the offspring will inherit no copies of the
disease allele and will not express the phenotype or
be a carrier. This individual would not be at risk for
passing the disorder on to his/her offspring. mal
dominant inheritance, the proportion of affected
males should be equal to the proportion of affected
females in a given population.
Examples of diseases with autosomal recessive
inheritance include sickle cell anemia and cystic
fibrosis.

Inheritance pattern of sickle cell

trait

Definition of Sickle Cell

Inherited disorder of red blood cells.
A hemoglobinapathy characterized
by the presence of hemoglobin S.
#1 Inherited disorder in the
United States

Etiology
Over 70,000 Americans have sickle
cell disease
Affects
1:500 African Americans
1: 1,000-1,400 Hispanic
Americans

Type

Severity

HBAS

Sickle cell trait, no

clinical implications

HBSS

Severe, most common

HBSS with HGBF

Moderate to severe

HBSC

Moderate to severe

HB SB THAL-O

Usually severe

HB SB THAL+

Mild to moderate

HBSO

Mild to moderate

PATHOPHYSIOLOGY

CAC

GTG

GAC

TGA

GGA

CTC

CTC

GTG

CAC

CTG

ACT

CCT

GAG

GAG

valine

histidine

leucine

threonine

proline

glutmaic
acid

glutamic
acid

CAC

GTG

GAC

TGA

GGA

CAC

CTC

GTG

CAC

CTG

ACT

CCT

GTG

GAG

valine

histidine

leucine

threonine

proline

valine

glutamic
acid

APHON 2007

Single amino acid substitution: valine

replaces glutamic acid on the 6th
position of the chain

Normal HGB

Sickle
HGB

Red blood cells contain hemoglobin, a protein that carries

oxygen in the blood. Normal red blood cells are round and
flexible, which enables them to travel through small blood
vessels to deliver oxygen to all parts of the body.
Sickle cell disease causes red blood cells to form into a
crescent shape, like a sickle. The sickle-shaped red blood
cells break apart easily, causing anemia.

The loss of red blood cell elasticity is central to the pathophysiology of sickle-cell
disease.
Normal red blood cells are quite elastic, which allows the cells to deform to pass
through capillaries.
In sickle-cell disease, low-oxygen tension promotes red blood cell sickling and
repeated episodes of sickling damage the cell membrane and decrease the cell's
elasticity. 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 ischemia.
The actual anemia of the illness is caused by hemolysis, the destruction of the red
cells inside the spleen, because of their misshape. Although the bone marrow
attempts to compensate by creating new red cells, it does not match the rate of
destruction. Healthy red blood cells typically live 90-120 days, but sickle cells only
survive 1020 days.

Sickle RBCs are rigid ; they break

easily causing:
hypoxia/acidosis
fever/infection
dehydration
exposure to cold

LABORATORY FINDINGS

Hemoglobin electrophoresis determines type if Hemoglobin you have, absence of HGB A

CBC HGB/Hct
reticulocyte count
WBCs and platelets
total bilirubin

Health care

Immunizations
Penicillin prophylaxis
Regular screenings
Transition to adult care
providers

Treatment
Hydroxyurea is an antineoplastic drug that treats sickle
cell anemia by helping to prevent formation of sickleshaped red blood cells.
Folic acid is a type of B vitamin that helps body produce
and maintain new cells
Blood transfusions/ Red blood cell exchange(apheresis)
Transplant
Research
Gene therapy
Clinical trials

Exchange transfusion
Potentially life saving procedure
Slowly removes the patients blood
and replaces it with fresh donor
blood or plasma
Done in cycles
Treats severe sickle crisis , risk for
strokes, priapism, acute chest
High red blood cell count
Monitor after procedure, hydrate if
needed

ACCESS

vortex

Acute sickle cell disease

complications
Infection is the # 1 cause of
death in children with sickle
cell disease.
Bacteremia
Bacteria in the blood
Fever

Complications contd
Pneumonia
Cough
Chest pain
Respiratory distress
Chest x ray
Osteomyelitis
Localized bone pain
Swelling ,redness, warmth

Treatment
CBC, retic, blood cultures
Aspirate or radiologic testing of bone
if osteomyelitis is suspected.
Immediate administration of broad
spectrum antibiotic

NURSING CONSIDERATION

Do not delay antibiotic

administration
Alert MD/NPs to all new onset
fevers
Close monitoring
Discharge teaching
Past bacteremia places child
at risk for repeat infection

Pain crisis

Verbalize pain
Tachycardia
Splinting
Hypertension
Crying ,inconsolability
Refusal to be touched

PATHOPHYSIOLOGY

Location of Pain

Clinical Considerations

Bone pain

Osteomyelitis, trauma

Joint pain

AVN, arthritis, JRA, SLE

Abdominal pain

Splenic/liver sequestration,
choleycystitis, appendicitis

Penis, bladder pain

Priapism/Infection/Renal disease

Chest pain/
discomfort

Acute chest syndrome, pneumonia,

asthma, arrhythmias

Generalized pain

Fever, infection/
Multi-organ failure

PAIN ASSESSMENT

Numeric scale
The Wong-Baker FACES Pain Rating Scale
Consistent use of the same scale
Descriptive words

Wong-Baker
FACES
Pain Rating Scale

Treatment

Hydration
Analgesics
Antibiotics
oxygen

Treatment

Psychological: distraction education,

Behavioral: deep breathing, relaxation,
exercise
Physical: hydration, heat, massage, PT,
acupressure
PRBC transfusions for severe or
prolonged pain episodes

NURSING CONSIDERATIONS

Discharge teaching

Assessment tools
Tapering PO analgesics
Side effects
Incentive spirometry,
deep breathing
Tolerance vs addiction
Keep pain journal

Acute chest syndrome

Respiratory symptoms
Decreased respiratory effort
Fever
#2 cause of hospitalizations in
children
Decreased hemoglobin
Non productive cough
Chest, back, or abdominal pain

 Decreased breath sounds

Infiltrate on chest x ray

Treatment
IV Fluids
Oxygen
Antibiotics
Transfusion
Simple
Exchange
Pain management
Incentive spirometry
Risk for pneumonia

Splenic Sequestration
Enlargement of the spleen
Decrease in hemoglobin and platelets, increase
in retic
Often associated with viral or bacterial
infection
Usually between 3mth and 5 yrs

Treatment
PICU
PRBC transfusion
Hemoglobin to no higher than 8.0 to avoid
auto transfusion
Pain management
Antibiotics
Teach parents to palpate spleen
Splenectomy if needed

Cerebral vascular
accident /stroke
Neurological event that is the result of sickle
cell disease
Obstruction of cerebral arteries
Ischemia or infarction of brain tissue
TIA
Present with vision changes, speech
disturbances, headache, cranial nerve palsy,
altered LOC, seizures, coma

Treatment

Exchange transfusion
Ct scan
MRI/ MRA
Long term transfusion therapy
Nursing considerations: resp monitoring,
neuro checks, seizure precautions, rehab,
compliance with meds and transfusions.

PRIAPISM

Persistent, unwanted,
painful erection of
the penis

Treatment

Fluids
Pain management
Empty bladder
Surgical intervention
Simple or exchange transfusion

Chronic conditions
Eyes: jaundice
Heart and lungs: caused by chronic anemia:
cardiomegaly and restrictive pulmonary disease,
pulmonary hypertension
Growth: delayed growth and maturation
Choleycystitis: acute inflammation of gallbladder
(stores bile)
Joints: chronic ,arthritic pain
Kidneys: decreased oxygen, acidic environment
Skin: leg ulcers related to poor perfusion, poor healing

REFERENCES
Ludder-Jackson, P. & Vessey, J.A. (1996).
Primary care of the child with a chronic
condition, 2nd ed. St. Louis, MO: MosbyYearbook Press.
Kato, G. J. McGowan, V., Machado, R. F.,
Little, J. A., Taylor, J., Morris, C. R., et al.,
(2005). Lactate dehydrogenase as a
biomarker of hemolysis-associated nitric
oxide resistance, priapism, leg
ulceration, pulmonary hypertension, and
death in patients with sickle cell
disease. Blood, 107(6):2279-85.

REFERENCES
Platt, A.F. & Sacerdote, A. (2002). Hope &
destiny: the patients and parents guide to
sickle cell disease and sickle cell trait.
Roscoe, IL: Hilton Publishing Co.
Serjeant, G.R. (2001). Sickle Cell Disease,
(3rd ed.). New York: Oxford University
Press.
APHON 2007

REFERENCES
Miller S. T., Sleeper L. A., Pegelow C. H., Enos L. E.,
Wang W. C., Weiner S. J., et al., (2000). Prediction
of Adverse Outcomes in Children with Sickle Cell
Disease. New England Journal of Medicine. 342, 83- 89.
Nathan, D., Orkin, SH., Look, AT., & Ginsburg, D. (eds.).
(2003) Nathan and Oski's Hematology of Infancy and
Childhood, (6th ed.). Philadelphia, PA: W.B.
Saunders Co.
Nathan, D.G. & Oski, F.A. (1998). Hematology of infancy
and childhood, (revised ed. ). Philadelphia, PA: W.B.
Saunders Co.
APHON 2007

Evaluation method

Questions
What protein carries oxygen to the
blood?
During sickle cell crisis, nurses
should observe patients for?
What cells are involved in sickle cell?
What is the #2 cause of
hospitalization with children with
sickle cell?
Name one way to prevent stroke.

Bingo game
B
HEMOGL
OBIN

I
ACUTE

CELL
DEATH
HYPOXIA

PAIN
IBUPROF
EN

INFECTIO Carrier
N
HOSPITA Culture
L

N
Chest x
ray
blood

G
HOME

O
TYLENOL

Blood
type
O

B+

Red
blood
cells
Inflamma ACUTE
tion
CHEST
PCA
CHRONIC

Machine
exchang
e
Parents
Blood
transfusi
on