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SICKLE CELL ANEMIA
Sickle cell anemia is
a serious disease in
which the body
makes sickle-
shaped red blood
cells. “Sickle-
shaped” means that
the red blood cells
are shaped like a
"C."
Normal red blood cells are disc-shaped
and look like doughnuts without holes in
the center.
They move easily through your blood
vessels. Red blood cells contain the
protein hemoglobin .
This iron-rich protein gives blood its red
color and carries oxygen from the lungs
to the rest of the body.
Sickle cells contain abnormal hemoglobin
that causes the cells to have a sickle
shape.
Sickle-shaped cells don’t move easily
through your blood vessels.
They’re stiff and sticky and tend to form
clumps and get stuck in the blood vessels.
Classificaton
Sickle-cell anaemia is the name of a
specific form of sickle-cell disease in
which there is homozygosity for the
mutation that causes HbS.
Sickle-cell anaemia is also referred to
as "HbSS", "SS disease", "haemoglobin
S“.
It is referred to as "HbAS" or "sickle cell
trait".
sickle-haemoglobin C disease (HbSC)
including both Hbs and Hbc.
Sickle thalassaemia disease a
combination of sickle cell trait and beta
thalassaemia trait.
Cont…
β+ refers to the ability to still produce
some normal Hba.
sickle beta-zero-thalassaemia (HbS/β0
)
indicates that there is no ability to
produce Hba
Causes
Patho…
Sickle-cell anaemia is caused by
point mutation
in β-globin chain of haemoglobin
causing the amino acid glutamic acid
to be replaced with the hydrophobic
amino acid valine at the sixth position
β-globin gene is found on the short arm of
chromosome 11
association of two wild-type α-globin subunits
with two mutant β-globin subunits forms
haemoglobin S (HbS)
Under low-oxygen conditions
the absence of a polar amino acid at
position six of the β-globin chain
promotes the non-covalent polymerisation
of haemoglobin (aggregation)
which distorts red blood cells into a sickle
shape and decreases their elasticity
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
sickle-cell disease, low-oxygen tension
promotes red blood cell sickling
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
ischaemia
point mutation
A type of mutation that causes the
replacement of a single base nucleotide
with another nucleotide of the genetic
material, DNA or RNA.
The term point mutation also includes
insertions or deletions of a single base
pair
Signs and Symptoms
Common symptoms include:
Attacks of abdominal pain
Bone pain
Breathlessness
Delayed growth and puberty
Fatigue
Cont..
Fever
Jaundice
Paleness
Rapid heart rate
Ulcers on the lower legs
Cont..
Other symptoms include:
Chest pain
Excessive thirst
Frequent urination
Poor eyesight/blindness
Strokes
Skin ulcers
Precipitating Factors of Crisis
Dehydration
Infection
Trauma
Strenous physical exertion
Extreme fatigue
Cont..
Cold exposure
Hypoxia
Acidosis
Surgery
pregnancy
Vaso-occlusive crisis
Vaso-occlusive
crisis- is caused
by sickle-shaped
red blood cells
that obstruct
capillaries and
restrict blood flow
to an organ
Signs and Symptoms
Cont….
Diagnosis
Complete blood count
Hemoglobin electrophoresis
Sickle cell test
Bilirubin
Blood oxygen
CT scan or MRI
Peripheral smear
Cont..
Serum creatinine
Serum hemoglobi
Serum potassium
Urinary casts or blood in the urine
White blood cell count
Diagnosis
In HbSS, the full blood count reveals
haemoglobin levels in the range of 6–8 g/dL
with a high reticulocyte count
(as the bone marrow compensates for the
destruction of sickle cells by producing more
red blood cells). In other forms of sickle-cell
disease, Hb levels tend to be higher.
A blood film may show features of
hyposplenism
The presence of sickle haemoglobin can also
be demonstrated with the "sickle solubility
test".
A mixture of Hb S in a reducing solution (such
as sodium dithionite) gives a turbid
appearance, whereas normal Hb gives a
clear solution.
Abnormal Hb can be detected on Hb electrophoresis
on which the various types of haemoglobin move at
varying speeds
HgbS and haemoglobin C with sickling (HgbSC)—
the two most common forms—can be identified
A urinalysis to detect an occult urinary tract infection,
and chest X-ray to look for occult pneumonia should
be routinely performed
Prevention of sickling
Promote adequate oxygenation and
hemodilution
Encourage increased intake of fluids
150ml/kg/day
Avoid high altitude and other low
oxygen environment
Avoid strenuous physical exertion
Maintain oxygen saturation at 90%
Avoid extreme heat or cold
Routine blood transfusion
Treatment
Dietary cyanate, from foods containing
cyanide derivatives, has been used as a
treatment for sickle- cell anemia
Cyanate and thiocyanate irreversibly
inhibit sickling of red blood cells drawn
from sickle cell anemia patients
Vaso-occlusive crisis
Most people with sickle-cell disease have
intensely painful episodes called vaso-
occlusive crises.
Painful crises are treated symptomatically
with analgesics; pain management requires
opioid administration at regular intervals until
the crisis has settled.
For milder crises, a subgroup of
patients manage on NSAIDs (such as
diclofenac or naproxen)
For more severe crises, most patients
require inpatient management for
intravenous opioids; patient-controlled
analgesia (PCA) devices are commonly
used
Diphenhydramine is also an effective
agent that is frequently prescribed by
doctors in order to help control any
itching associated with the use of
opioids.
Folic acid and penicillin
Children born with sickle-cell disease
will undergo close observation by the
pediatrician.
These patients will take a 1 mg dose of
folic acid daily for life. From birth to five
years of age,
they will also have to take penicillin
daily due to the immature immune
system that makes them more prone to
early childhood illnesses
Acute chest crisis
Management is similar to vaso-
occlusive crisis, with the addition of
antibiotics
Oxygen supplementation for hypoxia,
and close observation
If pulmonary infiltrate worsen or the
oxygen requirements increase, simple
blood transfusion or exchange
transfusion is indicated
It involves the exchange of a significant
portion of the patients red cell mass for
normal red cells
Which decreases the percent of
haemoglobin S in the patient's blood
Hydroxyurea, was shown to decrease
the number and severity of sickle cell
disease
This is achieved, by reactivating fetal
haemoglobin production in place of the
haemoglobin S that causes sickle-cell
anaemia.
Bone marrow transplants have proven
to be effective in children
Dialysis or kidney transplant for kidney
disease
Drug rehabilitation and counseling for
psychological complications
Gallbladder removal (if you have
gallstone disease)
Hip replacement for avascular necrosis
of the hip
Irrigation or surgery for persistent,
painful erections (priapism)
Surgery for eye problems
Wound care, zinc oxide, or surgery for
leg ulcers
Nursing Management
Edu. of the family and child
Early intervention for problems such as
fever
Administer antibiotics acc. To
prescription
Adequate hydration to prevent sickling
Early recognition of resp. problems
Alternative pain management
technique, behavior modification
program ,relaxation therapy,hypnosis,
music therapy, message and
transcutaneous electrical nerve
stimulation
Give primary immunizations as well as
pneumococcal, HIB, hepatitis and
trivalent influenza vaccine
Complications
Chronic hemolytic anemia
Risk of death in children younger than 5
yrs mainly from sepsis
Splenic sequestration
Hemolysis
Aplasia
Vaso-occlusion
Sickle cell anemia

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Sickle cell anemia

  • 1. SICKLE CELL ANEMIA Sickle cell anemia is a serious disease in which the body makes sickle- shaped red blood cells. “Sickle- shaped” means that the red blood cells are shaped like a "C."
  • 2.
  • 3. Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain the protein hemoglobin . This iron-rich protein gives blood its red color and carries oxygen from the lungs to the rest of the body.
  • 4. Sickle cells contain abnormal hemoglobin that causes the cells to have a sickle shape. Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and sticky and tend to form clumps and get stuck in the blood vessels.
  • 5. Classificaton Sickle-cell anaemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anaemia is also referred to as "HbSS", "SS disease", "haemoglobin S“.
  • 6. It is referred to as "HbAS" or "sickle cell trait". sickle-haemoglobin C disease (HbSC) including both Hbs and Hbc. Sickle thalassaemia disease a combination of sickle cell trait and beta thalassaemia trait.
  • 7. Cont… β+ refers to the ability to still produce some normal Hba. sickle beta-zero-thalassaemia (HbS/β0 ) indicates that there is no ability to produce Hba
  • 9. Patho… Sickle-cell anaemia is caused by point mutation in β-globin chain of haemoglobin causing the amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position
  • 10. β-globin gene is found on the short arm of chromosome 11 association of two wild-type α-globin subunits with two mutant β-globin subunits forms haemoglobin S (HbS)
  • 11. Under low-oxygen conditions the absence of a polar amino acid at position six of the β-globin chain promotes the non-covalent polymerisation of haemoglobin (aggregation)
  • 12. which distorts red blood cells into a sickle shape and decreases their elasticity loss of red blood cell elasticity is central to the pathophysiology of sickle-cell disease
  • 13. Normal red blood cells are quite elastic, which allows the cells to deform to pass through capillaries sickle-cell disease, low-oxygen tension promotes red blood cell sickling
  • 14. 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
  • 15. As a consequence, these rigid blood cells are unable to deform as they pass through narrow capillaries leading to vessel occlusion and ischaemia
  • 16. point mutation A type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA. The term point mutation also includes insertions or deletions of a single base pair
  • 17. Signs and Symptoms Common symptoms include: Attacks of abdominal pain Bone pain Breathlessness Delayed growth and puberty Fatigue
  • 19. Cont.. Other symptoms include: Chest pain Excessive thirst Frequent urination Poor eyesight/blindness Strokes Skin ulcers
  • 20. Precipitating Factors of Crisis Dehydration Infection Trauma Strenous physical exertion Extreme fatigue
  • 22. Vaso-occlusive crisis Vaso-occlusive crisis- is caused by sickle-shaped red blood cells that obstruct capillaries and restrict blood flow to an organ
  • 25. Diagnosis Complete blood count Hemoglobin electrophoresis Sickle cell test Bilirubin Blood oxygen CT scan or MRI Peripheral smear
  • 26. Cont.. Serum creatinine Serum hemoglobi Serum potassium Urinary casts or blood in the urine White blood cell count
  • 27. Diagnosis In HbSS, the full blood count reveals haemoglobin levels in the range of 6–8 g/dL with a high reticulocyte count (as the bone marrow compensates for the destruction of sickle cells by producing more red blood cells). In other forms of sickle-cell disease, Hb levels tend to be higher.
  • 28. A blood film may show features of hyposplenism The presence of sickle haemoglobin can also be demonstrated with the "sickle solubility test". A mixture of Hb S in a reducing solution (such as sodium dithionite) gives a turbid appearance, whereas normal Hb gives a clear solution.
  • 29. Abnormal Hb can be detected on Hb electrophoresis on which the various types of haemoglobin move at varying speeds HgbS and haemoglobin C with sickling (HgbSC)— the two most common forms—can be identified A urinalysis to detect an occult urinary tract infection, and chest X-ray to look for occult pneumonia should be routinely performed
  • 30. Prevention of sickling Promote adequate oxygenation and hemodilution Encourage increased intake of fluids 150ml/kg/day Avoid high altitude and other low oxygen environment Avoid strenuous physical exertion Maintain oxygen saturation at 90%
  • 31. Avoid extreme heat or cold Routine blood transfusion
  • 32. Treatment Dietary cyanate, from foods containing cyanide derivatives, has been used as a treatment for sickle- cell anemia Cyanate and thiocyanate irreversibly inhibit sickling of red blood cells drawn from sickle cell anemia patients
  • 33. Vaso-occlusive crisis Most people with sickle-cell disease have intensely painful episodes called vaso- occlusive crises. Painful crises are treated symptomatically with analgesics; pain management requires opioid administration at regular intervals until the crisis has settled.
  • 34. For milder crises, a subgroup of patients manage on NSAIDs (such as diclofenac or naproxen) For more severe crises, most patients require inpatient management for intravenous opioids; patient-controlled analgesia (PCA) devices are commonly used
  • 35. Diphenhydramine is also an effective agent that is frequently prescribed by doctors in order to help control any itching associated with the use of opioids. Folic acid and penicillin Children born with sickle-cell disease will undergo close observation by the pediatrician.
  • 36. These patients will take a 1 mg dose of folic acid daily for life. From birth to five years of age, they will also have to take penicillin daily due to the immature immune system that makes them more prone to early childhood illnesses
  • 37. Acute chest crisis Management is similar to vaso- occlusive crisis, with the addition of antibiotics Oxygen supplementation for hypoxia, and close observation If pulmonary infiltrate worsen or the oxygen requirements increase, simple blood transfusion or exchange transfusion is indicated
  • 38. It involves the exchange of a significant portion of the patients red cell mass for normal red cells Which decreases the percent of haemoglobin S in the patient's blood Hydroxyurea, was shown to decrease the number and severity of sickle cell disease
  • 39. This is achieved, by reactivating fetal haemoglobin production in place of the haemoglobin S that causes sickle-cell anaemia. Bone marrow transplants have proven to be effective in children
  • 40. Dialysis or kidney transplant for kidney disease Drug rehabilitation and counseling for psychological complications Gallbladder removal (if you have gallstone disease)
  • 41. Hip replacement for avascular necrosis of the hip Irrigation or surgery for persistent, painful erections (priapism) Surgery for eye problems Wound care, zinc oxide, or surgery for leg ulcers
  • 42. Nursing Management Edu. of the family and child Early intervention for problems such as fever Administer antibiotics acc. To prescription Adequate hydration to prevent sickling Early recognition of resp. problems
  • 43. Alternative pain management technique, behavior modification program ,relaxation therapy,hypnosis, music therapy, message and transcutaneous electrical nerve stimulation Give primary immunizations as well as pneumococcal, HIB, hepatitis and trivalent influenza vaccine
  • 44. Complications Chronic hemolytic anemia Risk of death in children younger than 5 yrs mainly from sepsis Splenic sequestration Hemolysis Aplasia Vaso-occlusion