Sickle Cell

Question 1

What CBC results will be seen bc of the hemolytic anemia?

Answer 1

anemia, high retic count, increased RDW, sometimes increased WBCs and platelets

Question 1

What is normal progression of hemoglobins on the beta chain from fetus to adult?

Answer 1

epsilon, gamma, delta, beta

Question 1

What is Hydroxyurea?

Answer 1

an oral chemo agent

Question 2

_____ occurs in a person with one sickle cell gene and one normal gene.

Answer 2

Sickle cell trait

Question 3

_____ occurs in persons who have two abnormal β-globin genes; at least one of these genes has the sickle mutation.

Answer 3

Sickle cell disease

Question 3

What is the treatment for iron overload?

Answer 3

a chelation agent

Question 4

What is the acute, severe swelling of the hands and feet, usually in sickle cell infants called?

Answer 4

hand-foot syndrome

Question 6

How is sickle cell inherited?

Answer 6

auto. recessive

Question 6

Name 3 complications of hemolysis in sickle cell.

Answer 6

1) aplastic crisis 2) growth retardation or delay 3) bilirubin gallstones

Question 6

What can occur after several transfusions?

Answer 6

iron overload

Question 7

What findings will be seen in Sickle Cell on the peripheral smear?

Answer 7

sickle forms, schistocytes, polychromasia

Question 8

What are the 3 major treatments of sickle cell?

Answer 8

1) bone marrow transplant 2) Hydroxyurea therapy 3) transfusion

Question 9

Where are the hemoglobin beta genes located?

Answer 9

chromosome 11

Question 10

What does normal hemoglobin A2 consist of?

Answer 10

alpha2-delta2

Question 11

What is the predominant hemoglobin after age 2?

Answer 11

HbA

Question 13

When deoxygenated, sickle hemoglobin polymerizes into _____ which distort the shape of the RBC into a “sickle form.”

Answer 13

14-strand helical fibers

Question 14

How long do sickle RBCs last in circulation?

Answer 14

20 days

Question 15

Retinal vessel damage can lead to ____ and ____.

Answer 15

retinal detachment; blindness

Question 16

Sickle cell disease occurs in persons who have two abnormal β-globin genes; at least one of these genes has _____.

Answer 16

the sickle mutation

Question 17

What is normal progression of hemoglobins on the alpha chain from fetus to adult?

Answer 17

zeta, alpha

Question 18

What is acute chest syndrome?

Answer 18

sickle RBCs become trapped in the lungs- damage endothelium- fluid leaks in- can’t breathe

Question 20

What abnormal chemistry findings will be seen in sickle cell anemia?

Answer 20

increased bilirubin, LDH, AST

Question 21

Why do skin ulcers occur in sickle cell anemic?

Answer 21

microvascular ischemia and poor healing

Question 22

When large numbers of sickle RBCs become abruptly trapped in the spleen, causing severe anemia and shock, ______ has occurred.

Answer 22

splenic sequestration

Question 22

Nearly all patients with sickle cell anemia (HbSS) chronically occlude the spleen’s microcirculation, resulting in “autoinfarction” (destruction) of the spleen by the age of \_\_\_.

Answer 22

5

Question 23

What are the beta globin genes in sickle cell disease?

Answer 23

HbSS

Question 24

In what locations can sickles be formed in sickle cell train?

Answer 24

renal medulla

Question 25

How is sickle cell diagnosed?

Answer 25

gel electrophoresis (separation) of the hemoglobins

Question 26

What is sickle cell crisis?

Answer 26

when a stressor, coupled with BV damage and constriction, causes sickling and pain

Question 26

What does normal hemoglobin A1 consist of?

Answer 26

alpha2-beta2

Question 28

Name locations that sickle cells tend to adhere and cause vascular occlusion.

Answer 28

1) spleen 2) CNS 3) lungs 4) kidney 5) retina 6) femoral and humeral head 7) ankle skin (ulcers)

Question 29

What is strain on the R side of the heart called?

Answer 29

cor pulmonale

Question 31

What is splenic sequestration?

Answer 31

when large numbers of sickle RBCs become abruptly trapped in the spleen, causing severe anemia and shock

Question 31

Why is Hydroxyurea used to treat sickle cell pts?

Answer 31

fetal hemoglobin produced interferes with sickle hemoglobin polymerization

Question 31

What does normal hemoglobin F consist of?

Answer 31

alpha2-gamma2

Question 32

What is priapism?

Answer 32

sustained, painful erections

Question 33

What is hand-foot syndrome?

Answer 33

acute, severe swelling of the hands and feet, usually in sickle cell infants

Question 33

What is a limitation for bone transplants in sickle cell patients?

Answer 33

finding a match- less than 20% have a donor avail

Question 34

What is the average lifespan of a sickle cell pt?

Answer 34

50-60

Question 35

How much HbF is seen at a normal birth?

Answer 35

60-90%

Question 36

What does Hydroxyurea do?

Answer 36

it induces production of fetal hemoglobin in persons older than 12 mos

Question 38

Sickled RBCs cause damage to the lung microvasculature, leading to \_\_\_\_\_.

Answer 38

pulmonary arterial hypertension (PAH)

Question 39

Why do sickle cells have a propensity to adhere to one another?

Answer 39

membrane injury, retention of surface adhesion molecules

Question 40

How much HbA is seen at a normal birth?

Answer 40

10-40%

Question 42

What are the beta globin genes in sickle cell trait?

Answer 42

HbAS

Question 44

How are the kidneys affected by sickle cells?

Answer 44

tubules damaged, leading to inability to concentrate urine (to prevent dehydration); glomerular damage

Question 47

When \_\_\_\_\_\_, sickle hemoglobin polymerizes into 14-strand helical fibers which distort the shape of the RBC into a “sickle form."

Answer 47

deoxygenated

Question 49

Sickle cell disease occurs in persons who have two abnormal \_\_\_\_\_; at least one of these genes has the sickle mutation.

Answer 49

β-globin genes

Question 50

What is aplastic crisis?

Answer 50

a sudden drop in hemoglobin from compromised bone marrow

Question 51

When are the RBCs more likely to sickle?

Answer 51

hypoxia, dehydration, inflammation, infection, or other stresses

Question 52

What causes aplastic crisis in children?

Answer 52

Parvovirus B19

Question 53

What is the predominant hemoglobin in sickle cell trait?

Answer 53

hemoglobin A

Question 54

In what instances can sickles be formed in sickle cell trait?

Answer 54

exertion at altitude coupled with dehydration

Question 55

How do bone infactions occur in sickle cell?

Answer 55

chronic ischemia leads to necrosis

Question 55

How much HbA2 is seen at a normal birth?

Answer 55

less than 1%

Question 56

Nearly all patients with sickle cell anemia (HbSS) chronically occlude the spleen’s microcirculation, resulting in “\_\_\_\_\_\_\_” (destruction) of the spleen by the age of 5.

Answer 56

autoinfarction

Question 57

Nearly all patients with sickle cell anemia (HbSS) chronically occlude the spleen’s \_\_\_\_\_\_, resulting in “autoinfarction” (destruction) of the spleen by the age of 5.

Answer 57

microcirculation

Question 58

What can potentially cure sickle cell disease?

Answer 58

bone marrow transplant

Question 59

What are the requirements for a bone marrow transplant donor?

Answer 59

HLA-matched, full sibling, unaffected

Question 60

Where does iron overload affect the body?

Answer 60

liver and heart

Question 61

Sickle cell trait occurs in a person with \_\_\_\_\_.

Answer 61

one sickle cell gene and one normal gene

Question 62

What are the 3 main sickle cell clinical manifestations?

Answer 62

1) chronic hemolytic anemia 2) chronic RBC adhesion/vascular occlusion 3) acute RBC adhesion/vascular occulusion

Question 63

What is a risk patients with sickle cell face because of RBCs damaging the CNS?

Answer 63

stroke

Question 64

Where are the hemoglobin alpha genes located?

Answer 64

chromosome 16

Question 65

What finding is characteristic of aplastic crisis?

Answer 65

low retic count