Sickle cell disease

Question 1

inheritance pattern of sickle cell disease

Answer 1

Autosomal recessive

Question 2

SCD diagnostic methods

Answer 2

1. sickling test ( does not differentiate between carrier and disease)
2. hemoglobin electrophoresis

Question 3

when does HbS polymerization occur

Answer 3

upon deoxygenation

Question 4

what is the effects of hemolysis

Answer 4

eads to chronic anemia and nitric oxide depletion/releasing heme

Question 5

Sickle RBCs lead to (3 points)

Answer 5

1. Vaso-occlusion
2. Promote inflammation
3. Injure endothelium (vasculopathy)

Question 6

severe SCD is associated with (_) Wbc

Answer 6

higher

Question 7

Neutrophil interacts with Sickle RBCs promoting

Answer 7

vaso- occlusion.

Question 8

Neutrophils are activated with increased adhesive properties to endothelium

Answer 8

(P- and E-selectins)

Question 9

Activated platelets bind to

Answer 9

neutrophils to form aggregates (P- selectin dependent)

Question 10

what promote adhesion of Sickle
RBCs to endothelium.

Answer 10

Platelets are activated in SCD

Question 11

what are Sickle cell acute crises triggers

Answer 11

 Hypoxia
 Altitude
 Dehydration ( severe exercise) — always keep hydrated
 Infection
 Stress ( procedure/surgery)

Question 12

what is a cornerstone for management of SCD complications

Answer 12

Transfusion therapy

Question 13

Acute Painful crises
( General Management )

Answer 13

 IV Hydration
 Pain Control ( NSAIDS/OPIODS)
 Oxygen if indicated
 Transfusion if indicated

Question 14

Oral penicillin reduces incidence of

Answer 14

pneumococcal sepsis

Question 15

Discontinuation of penicillin prophylaxis can be considered at age

Answer 15

5 yrs

Question 16

what reduces frequency of painful episodes, ACS, transfusions, hospitalizations

Answer 16

hydroxyurea

Question 17

SCD patients develop splenic dysfunction as early as

Answer 17

3 months

Question 18

Increased risk for septicemia and meningitis ( 3organisms)

Answer 18

 Streptococcus Pneumoniae
 H. Influenzae type B
 Neisseria meningitidis

Question 19

Osteomyelitis (2organisms)

Answer 19

 Salmonella species
 Staphylococcus aureus

Question 20

Preventive Measures

Answer 20

1. Newborn screening/parental education
2. Prophylactic penicillin by 2 months of age
3. Immunizations

Question 21

An acutely enlarging spleen and hemoglobin level dropping more than 20 g/L below the patient’s baseline value

Answer 21

Splenic Sequestration

Question 22

Splenic Sequestration Clinical manifestations:

Answer 22

 Weakness, pallor, tachycardia, irritability
 Left abdominal pain, splenomegaly
 Can progress to shock and death

Question 23

Induces HbF expression in RBCs
Reduction in neutrophil count
Suppresses neutrophil activation
Reductions of adhesion of sickle RBCs to endothelium
Increases nitric oxide

Answer 23

Management of SCD Hydroxyurea

Question 24

The only curative therapy for SCD.

Answer 24

Stem Cell Transplantation

Question 25

what is the most common variant of sickle cell disease

Answer 25

Homozygous sickle cell anemia (HbSS)

Question 26

what is Typically the earliest manifestation of sickle cell disease

Answer 26

Dactylitis

Question 27

Most common acute complication of sickle cell disease

Answer 27

Vasoocclusive crises (sickle cell pain crisis)

Question 28

when do we see Howell-Jolly bodies

Answer 28

occur with splenic dysfunction

Question 29

what indicates the presence of hemolysis

Answer 29

Reticulocytosis

Question 30

Possible adverse effects of hu

Answer 30

Darkening of skin and nailbeds Myelosuppression An atypical form of macrocytosis (nonmegaloblastic anemia)