1. PRESENTED BY:
INUSAH ADAMS
(Ternopil State Medical Univ.)
30/11/13

2. PLAN OF PRESENTATION
 DEFINITION
 EPIDEMIOLOGY
 ETIOLOGY
 PATHOPHYSIOLOGY
 SIGNS &SYMPTOMS
 SYNDROMES
 DIAGNOSIS/INVESTIGATIONS
 DIFFERENTIALS
 TREATMENT
 COMPLICATIONS
 PROGNOSIS

3. Question
20 year old male patient was rushed into your
office on account of severe pain both lower
limbs and knee joints. On examination the
patient is clinically jaundiced with a temperature
of 380C
 What essential laboratory test would you
request immediately?
 Name two probable diagnoses
 What treatment would you initiate to help
this patient?
 Mention three pathophysiological
processes which could cause pain in such
patients.

4. What is sickle cell
disease/anemia?
It is a severe hereditary form of anaemia
in which a mutated form of hemoglobin
distorts the red blood cells into a
crescent shape at low oxygen levels.
It is an autosomal recessive form of
inheritance

5. Epidemiology of sickle cell
disease
 Incidence:

6 to 9 million infants are born each year with sickle cell
disease in Africa
 Sickle cell disease occurs 1 in 600 African-American infants
 1 in 12 people in Africa have sickle cell trait
Prevalence (race)
 Highest in African, African-American, Mediterranean (Italian,
Sicilian, Greek), Middle Eastern, East Indian, Caribbean, and
Central or South American descent
Age
 Affected patients characteristically are asymptomatic until
approximately 4 to 6 months of age
 Median age at death is approximately 42 years for men and
48 years for women
Sex:
 Ratio of male to female is 1:1

6. What is the etiology of sickle cell
disease?
Gene mutation
substitution of valine for glutamic acid in position
6 of the β-globin chain of Hb.

 HbAA-
normal person
 HbAS- sickle cell trait (they have a normal life
span)
 HbSS- sickle cell disease/anemia

7. Pathology con’t

8. Factor that provoke sickle cell
crisis (malaria)
 Infections
 Sudden
temperature changes
 Dehydration
 Extreme activity

9. Inheritance pattern
(autosomal recessive)
.

10. What is the pathophysiology of
sickle cell disease?
 Low
oxygen tension
a. Acidosis
b. Dehydration
c. Infections
d. Changes in temperature
 Polymerization (clumping) of Hb
 Sickling of RBCs causing obstruction of
blood vessels (vaso-occlussive crisis)
 Ischemia (low O2 to tissues)
 Infarction and tissue necrosis
 Tissue death

11. Pathophysiology of SCD

12. What is the clinical presentation of
SCD?
 Signs of Anemia (pallor then later jaundice)
 Episodes of pain in chest, abdomen, joints
and bones.
 Dactylitits (hand-foot syndrome): Swelling in
the hands or feet, painful
 Chronic leg ulcers (lateral malleoli)
 Delayed growth
 Poor vision (infarction of retina)
 Splenomegaly then autosplenectomy by age
4yrs
 Frequent infections caused by encapsulated
bacteria (strep. Pneumoniae, Neisseria
meningitides, H. influenza virus, klebsiella)
 priapism

13. What are the syndromes of
SCD?
 Vaso-occlusive
crisis (pain syndrome)
 Splenic
sequestration (congestion) crisis
 Aplastic
crisis (anemia syndrome)
 Hemolytic
crisis (the life span of sickled
RBC is 20days, jaundice syndrome)

14. Diagnosis of SCD?
CBC: low Hb, low RBC, reticulocytosis, high
ESR
 Biochemical blood test: high unconjugated
bilirubin, low haptoglobin, high LDH
 Sickling test: sickle cell shaped RBCs
 Hb electrophoresis
 Liver function test
 Blood film for malaria parasites
 ECG
 Serological blood test to detect infection
 Abdominal ultrasound may reveal
splenomegaly in infants or autosplenomegaly
in older children


15. Peripheral blood smear
(Normal Vs. Sickle Red Cells)

16. Differential diagnosis of SCD?
DISEASE
PRESENTATIONS/INVESTIGATIONS
1. G6PD deficiency
X-link recessive, Heinz bodies can be seen
in red blood cells on a blood film;
2. Acute pancreatitis
(acute abdomen)
Epigastric pain, high amylase and lipase
High diastase activity
3. Osteomyelitis
Persistent pain localized to one area,
especially in a febrile patient, suggests the
possibility of osteomyelitis.
4. Gout
Swelling and painful big toe, high uric acid
in blood, urate crystal in joints

17. Blood smear of G6PDD and
SCD
.

18. Hand-foot syndrome
gout

19. Can we treat SCD?






No cure
Rehydration therapy (N/S)
Analgesics
NSAIDs
Narcotics
Hydroxyurea (it increases production of HbF)
10mg/kg/day
 Folic acid supplements
 Treatment of infections (antibiotics, antimalarial)
 Oxygen
 Blood transfusion if aplastic anemia develops
 Warmth

Other adjuvant medications (sedatives, anxiolytics) May
increase efficacy of analgesics

20. Prevention of SCD/crisis
 Genetic
screening and counseling
 Prevention of infections
 Avoiding high altitude places
 Avoid extreme activity (physical
overexertion, stress)
 Have sufficient rest, warmth, and
increased fluid intake.
 Vaccination against encapsulated bacteria
 Avoid extreme changes in temperature
 Avoid smoking and alcoholism
 Frequent check ups every 3-6mths

21. Possible complications of SCD?
 Congestive
heart failure (most common
cause of death in SCD)
 Dactylitis
 Avascular necrosis of hip or shoulder
 Pulmonary hypertension
 Osteomyelitis caused by salmonella
 Stroke
 Retinopathy
 Splenic sequestration and autosplenomegaly
 Aplastic anemia
 Priapism
 Leg ulcers

22. Complications due to
treatment
Narcotic dependence
 Iron overload (hemochromatosis) from
chronic transfusions
 Peptic ulcer from NSAIDs usage


23. Prognosis of SCD?
 Patients
who have 3 vaso-occlusive
crisis three times a year die by age 35
 Patients with fewer crisis die at in their
50s

24. Case history (Pasco)
20 year old male patient was rushed into your
office on account of severe pain both lower limbs
and knee joints. On examination the patient is
clinically jaundiced with a temperature of 380C
 What essential laboratory test would you
request immediately?
 Name two probable diagnoses
 What treatment would you initiate to help
this patient?
 Mention three pathophysiological processes
which could cause pain in such patients.

25. What essential laboratory test
would you request
immediately?
FBC
Sickling test
Hemoglobin electrophoresis
G6PD
Clotting profile
Blood films for malaria parasites
LFTs

26. Name two probable diagnoses
 Sickle
Cell Disease
 G6PD deficiency
 Malaria

27. What treatment would you
initiate to help this patient?
 IV
fluids for hydration
 Supplemental oxygen
 Analgesia
 Look for and treat any infection

28. Mention three pathophysiological
processes which could cause
pain in such patients.
 Vaso-occlusive
crisis
 Sequestration crisis
 Hemolytic crisis
 Aplastic Crisis