Sickle Cell Disease

Sickle cell Anemia
Roselyne _JKUAT
Introduction
• Sickle cell anaemia is a serious disease in which the body makes
sickle-shaped ("c"-shaped) red blood cells. Normal red blood cells
are disk-shaped and move easily through your blood vessels. Red
blood cells contain the protein haemoglobin.
• Sickle cells contain abnormal haemoglobin that causes the cells to
have a sickle shape, which don’t move easily through the blood
vessels – they are stiff and sticky and tend to form clumps and get
stuck in the blood vessels.
• The clumps of sickle cells block blood flow in the blood vessels
that lead to the limbs and organs. Blocked blood vessels can cause
pain, serious infections, and organ damage.
Pathophysiology
• Sickle cell anemia is a severe hemolytic
anemia that resultsfrom inheritance of the
sickle hemoglobin gene.
• This gene causes the hemoglobin molecule
to be defective.
• When exposed to low oxygen tension, sickle
hemoglobin (HbS) acquires a crystal-like
formation
Pathophysiology of SCD Ct
• Consequently, the erythrocyte containing
HbS loses its round, pliable, biconcave disk
shape and becomes deformed, rigid,and
sickle shaped
• These long, rigid erythrocytes adheres to the
endothelium of small vessels resulting into
reduced blood flow to a region or an organ.
Pathophysiology of SCD Ct
If ischemia or infarction results, the patient may
have pain, swelling, and fever.
The sickling process takes time; if the
erythrocyte is again exposed to adequate
amounts of oxygen (eg, when it travels through
the pulmonary circulation) before the
membrane becomes toorigid, it can revert to a
normal shape.
CT Pathophysiology
• “Sickling crises” are intermittent
• Cold aggravates the crisis
• sickling process, because vasoconstriction
slows the blood flow.
• Oxygen delivery can also be impaired by an
increased viscosity, with or without
occlusion due to adhesion
• of sickled cells; in this situation, the effects
are seen in
• larger vessels, such as arterioles
Characteristics of sickle cells
RBCS SICKLED CELLS
■ 30-40 day life span
■ 120 day life span
■ Hb has normal oxygen ■ Hb has decreased
carrying capacity oxygen carrying

■ 12-14 g/dl
capacity
of
■ 6-9 g/dl of
Hb
Hb
Pathological defect.
✓ Sickle cell haemoglobinopathies are a group of diseases in

which normal adult haemoglobin ( haemoglobin A or Hb A) is
partially or completely replaced by a variant haemoglobin:
sickle haemoglobin (Hb S) or haemoglobin C ( Hb C),among
other.the molecular structures of these haemoglobins differ.
✓ Normal haemoglobin a contains four polypeptide chain,two
alpha and two beta chain,each with a characteristic amino acid
sequence.
✓ The alpha chain contains 141 amino acid, the beta chain 146
amino acids.
✓ The precise sequence of these amino acid have been established.
Cont…
✓ The nature of the differnces between Hb A,Hb
S, and Hb C is determined by the one amino
acid in the beta polypeptide chain in the sixth
position.this position is occupied by glutamic
acid in Hb A, by valine in Hb S,and by a
lysine residue in Hb C. in all of these
polypeptide chains,the sequence of the other
145 amino acids is the same.
TYPES OF SICKLE CELL DISEASE.
The four main types of sickle cell anemia are caused by
different mutations in these genes.
1) Hemoglobin SS disease
• Hemoglobin SS disease is the most common type of
sickle cell disease.
• It occurs when you inherit copies of the
hemoglobin S gene from both parents.
• This forms hemoglobin known as Hb SS.
• As the most severe form of SCD, individuals with
this form also experience the worst symptoms at a
higher rate.
Cont…
2 ) Hemoglobin SC disease
Hemoglobin SC disease is the second most common

type of sickle cell disease. It occurs when you inherit the
Hb C gene from one parent and the Hb S gene from the
other. Individuals with Hb SC have similar symptoms to
individuals with Hb SS. However, the anemia is less severe
Cont…
3 ) Hemoglobin SB+ (beta) thalassemia
• Hemoglobin SB+ (beta) thalassemia affects beta globin

gene production.
• The size of the red blood cell is reduced because less
beta protein is made.
• If inherited with the Hb S gene, you will have
hemoglobin S beta thalassemia. Symptoms are not as
severe.
Cont…
4 ) Hemoglobin SB 0 (Beta-zero)
thalassemia
• Sickle beta-zero thalassemia is the fourth type of sickle
cell disease.
• It also involves the beta-globin gene. It has similar
symptoms to Hb SS anemia.
• However, sometimes the symptoms of beta zero
thalassemia are more severe.
Cont…
Sickle cell trait

• People who only inherit a mutated gene (hemoglobin S)
from one parent are said to have sickle cell trait.
• They may have no symptoms or reduced symptoms.
Sign & symptoms
• excessive fatigue or irritability, from anemia
• bedwetting, from associated kidney problems
• jaundice, which is yellowing of the eyes and skin
• swelling and pain in hands and feet
• frequent infections
• pain in the chest, back, arms, or legs
Other Clinical Manifestations
■ CNS
➢ Hemorrhage
➢ Paralysis
❑ CVS
➢ CHF
➢ Heart rate increased

Cont…
■ Pulmonary
➢ Atelectasis
➢
➢ Pneumonia
➢ Pulmonary hypertension
❑ Resp. rate increased
GIT
➢ Acute hepatomegaly
➢ Spleenomegaly
■ GU
Cont…
➢ Hematuria
➢ Diuresis
■ Musculoskeletal
➢ Painful swelling of hands & feet
■ Ophthalmology
➢ Blindness
➢ Retinopathy
■ Dermatology
➢ Ulcers of hand &feet
Diagnostic test
•Blood counts can reveal an abnormal Hb level
in the range of 6 to 8 grams per deciliter.
•Blood films may show RBCs that appear as
irregularly contracted cells.
•Sickle solubility tests look for the presence of
Hb S.
Hb electrophoresis
Hb electrophoresis is always needed to
confirm the diagnosis of sickle cell disease. It
measures the different types of hemoglobin
Medical management
■ Hydroxyurea & erythropoietin increase
fetal Hb.
■ Transfusion therapy
■ Oxygen therapy
■ Analgesics: morphine,meperidine
■ Nutritional supplements
■ Monitoring vital signs

■ Genetic counselling.
■ Immunizations can help prevent infections
■ Psychological therapies
Complications
▪ Increased risk of severe bacterial
▪ infections stroke
▪ cholelithiasis (gallstones) and cholecystitis.
▪ Hyposplenism
▪ Osteomyelitis
Nsg mgmt
■ Impaired skin integrity r/t altered circulation to

tissues
■ Risk for injury r/t joint swelling.
❖ Position pt in sitting position& change position

❖ Remove constrictive clothing
❖ Give frequent & small feedings
Cont..
■ Altered renal tissue perfusion r/t to cell
sickling
❖ Inspect for edema for signs of impaired
renal function.
❖ Measure wt I/O to assess renal status
❖ Observe urine for colour,content & odour
❖ Maintain fluid intake.

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Sickle cell Anemia

carrying capacity oxygen carrying

✓ Sickle cell haemoglobinopathies are a group of diseases in

Hemoglobin SC disease is the second most common

• Hemoglobin SB+ (beta) thalassemia affects beta globin

Sickle cell trait

➢ Heart rate increased

■ Monitoring vital signs

■ Immunizations can help prevent infections

■ Impaired skin integrity r/t altered circulation to

❖ Position pt in sitting position& change position

❖ Maintain fluid intake.

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