Sickle Cell

Question 1

sickle cell is a mutation in?

Answer 1

hemoglobin B chain that leads to hemoglobin S formation which polymerizes when it is deoxygenated

Question 2

Deoxygenated hemoglobin S causes what

Answer 2

sickling of RBCs that leads to blood vessel occlusion and ischemia

Question 3

most common form of sickle cell

Answer 3

homogenous HbSS

Question 4

diagnosis of sickle cell

Answer 4

hemoglobin separation studies and genetic studies

Question 5

infants with confirmed sickle cell disease should receive what prophylactically

Answer 5

antibiotic prophylaxis against pneumococcal infection

Question 6

pathophysiology of sickle cell

Answer 6

point mutation in the B globin gene on chromosome 11

glutamic acid is replaced with Valine

Question 7

sickling of hemobglobin S occurs in deoxygenated states what are some states like this

Answer 7

hypoxia , infections, dehydration, acidosis, and stress

Question 8

clinical features of sickle cell

Answer 8

painless gross hematuria due to renal papillary necrosis

dactylitis <5 years old

vasooclusive crises: throbbing pain in the limbs, chest and back

infection: osteomyelitis, sepsis

splenic sequestration, aplastic crisis

pigmented stones

Question 9

osteomyelitis in sickle cell is often caused by?

Answer 9

salmonella spp

Question 10

sepsis in sickle cell is most often caused by?

Answer 10

streptococcous pneumoniae

Question 11

CBC findings of sickle cell

Answer 11

cresent shaped sickled RBCs

howell-jolly bodies (basophillic remnants of DNA found in immature RBC that cant be taken out by the spleen)

Question 12

infants and children with sickle cell should recieve antibiotic prohylaxis against pneumococcal disease until what age?

Answer 12

5 years of age

Question 13

what drug is used in sickle cell to minimize disease related complications

Answer 13

hydroxyurea

Question 14

for infants and children with sickle cell what is used to screen for stroke

Answer 14

an annual (yearly) transcranial doppler from 2 months until 16 years old

Question 15

what immunizations should people with sickle cell definitely get?

Answer 15

pneumococcal and meningococcal

Question 16

what is the daily prophylactic antibiotic given to kids 2 months until 5 years old with sickle cell

Answer 16

daily penicillin

Question 17

first line therapy for sickle cell

Answer 17

hydroxyurea

3 or more pain episodes a year

symptomatic anemia

acute chest syndrome

Question 18

MOA of hydroxyurea

Answer 18

stimulates erythropoiesis and increased fetal hemoglobin

Question 19

when would you do an allogeneic bone marrow transplant in someone with sickle cell

Answer 19

if they have a hisotry of stroke or abnormal transcranial doppler

recurrent episodes of pain and or ACS

works better if done before age 16

Question 20

when are exchange transfusions used in sickle cell

Answer 20

to prevent and treat vasoocclusive events

Question 21

when are simple transfusions used in sickle cell

Answer 21

to manage acute anemia in sickle cell disease

Question 22

how do you treat vasoocclusive crises aka sickle cell pain crisis

Answer 22

manage their pain

ensure hydration and administer oxygen if needed

Question 23

what are the vasoocclusive events that may occur in sickle cell disease

Answer 23

stroke or splenic sequestration

Question 24

how do you treat stroke in sickle cell disease

Answer 24

exchange transfusion

Question 25

how does splenic sequestration present in sickle cell disease

Answer 25

abrupt left upper quadrant pain, splenomegaly, hypotension, hypovolumeic shock

anemia

Question 26

what are the supportive findings of splenic sequestration

Answer 26

anemia with a Hb drop of greater than 2 with reticulocytosis

thrombocytopenia

Question 27

treatment of splenic sequestration

Answer 27

IV fluid resuscitation

RBC exchange transfusion

Question 28

Aplastic crisis in sickle cell disease is caused by

Answer 28

an infection with parvovirus B19 causing red blood cell aplasia and a drop in hemoglobin and reticulocytopenia

Question 29

patients with sickle cell disease are at high risk of infection most commonly by

Answer 29

encapsulated bacteria

Question 30

what is the first line antibiotic to treat infections in sickle cell disease

Answer 30

IV third generation cephalosporins like ceftriaxone

Question 31

fetal complications in sickle cell disease

Answer 31

increased risk of fetal growth restriction, low birth weight, preterm delivery, stillbirth

Question 32

what is acute chest syndrome

Answer 32

a complication of sickle cell disease that causes new chest infiltrate and respiratory symptoms

chest pain, dyspnea, hypoxia

• high risk of mortality

Question 33

skeletal complications of sickle cell disease

Answer 33

avascular osteonecrosis (interrupted blood supply to bone leads to death of bone tissue)

Question 34

individuals with sickle cell trait are less likely to develop ?

Answer 34

malaria