Sickle cell disease is a hereditary blood disorder caused by a mutation in the beta globin chain of hemoglobin. It results in abnormal sickle-shaped red blood cells that can cause pain, organ damage, and early death. Common complications include painful vaso-occlusive crises, acute chest syndrome, and stroke. Treatment involves pain management, antibiotics for infection, transfusions in emergencies, prophylactic penicillin in children, and hydroxyurea or bone marrow transplant in severe cases.

1. BY BARASA
KISII UNIVERSITY
BSC CLINICAL MED
SICKLE CELL DISEASE

2. SICKLE CELL DISEASE
DEF Heretitdary autosomal recessive disorder
Resulting from β globlin chain of heamoglobin
Where valine is in position six instead of glutamin

3. PATHOPHYSIOLOGY
 Heamoglobin S resultes from the substitution
where by valine is in position six instead of
glutamin as the amino acid of the β globlin chain.
 When deoxygenated HBS molecule undergo
condesation to produce abigger
molecule(polymerization) result in sickle like
RBC.

4.  These cells are prone to spleenic and
intravascular heamolysis.
 They are more adhehesive(sticky) and cause
occlusion(blockage) in the micro vasculature
 Resulting in infarctive damage of the tissue
 Due to spleenic congestion and the defecct in
the in the complement system
 The immune system is affected especially against
the encapusulated bacteria(pneumonia)

5.  The life span for sickle cell in homologous is 15 to
60days,heterozygous is 50 to 80days
and normal child is 120days
PREVALENCE
 Is found in falciparum malaria endemic areas of
western,nyanza and coast province

6. TRANSMISSION
Inherited autosomal recessive gene
HbSS_____homologous(disease)
HbAS_____Heterozygous
HbAA_____Normal

7. A couple AS intermarry
 AS AS
AA AS AS SS

8. Precipitating factors
 1.acute infections
 2.exercises/acidosis
 3dehydration
 4.shock
 5.drugs e.g anaesthesia
 6weather-high speed of wind,low
humidity,Atmospheric pollutants,
 7stress 8.alcohol 9.stress

9. CRISIS
 Vasoocclusive
 Sequestration
 Aplastic (assoĉ parvovirus B19 Infx)
 Painful/Vasooclusive
 Hemolytic
 Nonpainful non aneamic e.g stroke

10. 1.Painful vaso-occlusive crisis:
 The most frequent and is precipitated by
infection, acidosis, dehydration or
deoxygenation(eg altitude, operation, stasis of
circulation, exposure to cold, exercise, etc)
 Infarcts occur in a variety of organs including the
bones(hips, shoulders & vertebrae commonly),
the lungs and the spleen, penis
 Most serious crisis is of the brain( stroke in 7% )
or spinal cord
 Hand and foot syndrome; dactylitis due to
infarctive damage of small bones

11. 2. Visceral sequestration crisis:
 Caused by sickling within organs and pooling of
blood, often with a severe exacerbation of anaemia
and a rapidly enlarging spleen
 There is a risk of hypovolemic shock, particularly in
children
 parvovirus B19 infection may also be a risk factor for
splenic sequestration
 Acute sickle chest syndrome is a feared complication
and the most common cause of death after puberty
 Presents with dyspnea, falling Po2, chest pain and
pulmonary infiltrates on CXR
 Hepatic and splenic sequestration may lead to severe

12. 3. Aplastic crisis:
 Occurs as a result of infection with parvovirus
B19
 Typically preceded by fever and or
gastrointestinal symptoms and several family
members may fall ill over a period of days
 Due to transient arrest of erythropoiesis,
leading to abrupt reductions in hemoglobin
concentration and red cell precursors in the
bone marrow, and a markedly reduced
number of reticulocytes in the peripheral blood
( <1.0 % and retic count <10,000)

13. 4.Haemolytic crisis:
 Characterized by an increased rate of haemolysis
with a fall in Hb but rise in reticulocytes and
usually accompany a painful crisis

14. EVALUATION
 History
 Suggestive of sickle cell disease
 Family hx, recurrent transfusions, jaundice, hematuria,
chronic leg ulcers,etc
 Suggestive of the precipitating cause
 clinical exam
 Signs of sickle cell disease
 Signs of sickle cell crisis
 Signs of a precipitant eg infection, dehydration,etc

15.  Diagnosis of sickle cell crisis is usually clinical
 If a patient has symptoms that are severe enough
to warrant hospitalization, laboratory tests should
include a complete blood count, reticulocyte
count and urinalysis.
 If fever is present, a chest radiograph may be
obtained, and urine, sputum and blood may be
analyzed for a possible source of infection.

16.  Hb- drop of >2gm/dl indicates a hematological
crisis.If retic count N= sequestration, low=
aplastic, high= hemolytic
 WBC- leukocytosis expected in all patients; >
20,000 with left shift suggests
infection;leukopenia suggests parvovirus infection
 Platelet count often elevated.If low consider
hypersplenism
 PBF –sickle shaped RBCs along with target cells
and nucleated RBCs. Concurrent microcytosis
suggests sickle beta-thalassemia
 If SCD is uncertain – sickling test; Hb

17. ACUTE MANAGEMENT OF
PAIN
1. Pain management:
Opiates-
 Morphine, fentanyl, pethidine
Newer approaches
 Potent NSAIDs eg ketoralac –good for bone pain;
inj/po ; GI effects
 Opiod receptor-binding agents eg tramadol
 Other Nsaids used as pain improves
 Epidural anesthesia

18. 2. Fluid therapy
IV fuids in severe painful crisis – 5% dextrose and
normal saline: 1-2 times maintainance.Does not
relieve the pain.
3. Treatment of infection:
 Broad spectrum antibiotics
 Acute chest syndrome S. pneumoniae, H.
influenzae type b, Mycoplasma pneumoniae, and
Chlamydia pneumoniae .
 Osteomyelitis- salmonella and s. aureus

19. 4. Transfusion therapy(therapeutic)
Acute stroke- partial exchange
Acute chest syndrome – partial exchange
Acute multi-organ failure- partial exchange
Acute symptomatic anemia,
Aplastic crisis,
Reticulocytopenia (most commonly associated with
Parvovirus B19 infection, but can occur with any
infection),
Pre-operative settings,
Hepatic or splenic sequestration.

20.  Simple transfusion is used for single transfusions
to restore oxygen carrying capacity or blood
volume
 Partial exchange transfusions are recommended
for acute emergencies and for chronic transfusion
because of the improved viscosity effects and
reduced iron burden with this approach
 Hb should not be raised much above 10 g/dL
because of increases in viscosity and the risk of
vasoocclusive episodes.

21. 5. Oxygen administration:
 Oxygen therapy has not been shown to affect the
duration of a pain crisis or to be useful in patients
with acute chest syndrome whose Pao2 is in the
normal .
 Oxygen should be administered only if
hypoxemia is present.

22. LONG TERM MANAGEMENT
Infection control and prophylaxis
 Instructions regarding early recognition of infection.
Fever should be considered a medical emergency
requiring prompt medical attention and treatment with
antibiotics.
 Immunization against Streptococcus pneumoniae,
Haemophilus influenzae type B, hepatitis B virus, and
influenza .
 The response to the pneumococcal capsular
polysaccharide vaccine is generally poor , but receipt
of ongoing penicillin prophylaxis does not appear to
interfere with an IgG response to reimmunization .
 Vaccination with the new conjugate pneumococcal
preparation may be superior in patients with SCD

23. Prophylactic penicillin — Penicillin V should be
given 125 mg po BD within 3 months of birth until
2-3 yrs of age then 250 mg BD until the age of
five.
 After five years of age some parents, after
consultation with their clinicians, may elect to stop
penicillin prophylaxis, while others will continue.
Paludrine 3mg/kg od monthly
Routine treatment and evaluations
Folic acid is given orally in a dose of 1 mg/day

24. Hydroxyurea:
has been definitively shown to reduce the
incidence of acute painful episodes,
transfusions, and hospitalization rates
 Increases HbF as a result of stress erythropoiesis induced
by its myelosuppressive effect
 Indications:(children older than 6 years):
 Frequent painful episodes
 History of acute chest syndrome
 History of other severe vasoocclusive events
 Severe symptomatic anaemia
 Start at 15mg/kg, increase to max 25mg/kg provided no
side effects

25. Bone marrow transplant:
 Allogeneic BMT from matched sibling donor
cures 85% of children with SCD less than 16
yrs of age
 5-10% die due to causes related to BMT
 10% experience graft rejection with the return
of SCD
 Indications:(complex)
 Stroke
 Recurrent acute chest syndrome
 Recurrent vaso-occlusive episodes