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Clinical Medicine Final Exam > Genetics > Flashcards

Flashcards in Genetics Deck (11)
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1

what is the pathophysiology of sickle cell anemia?

mutation of the beta-globulin gene, that changes the RBC structure leading to tissue ischemia

2

is sickle cell anemia, autosomal recessive or autosomal dominant?

autosomal recessive

3

sickled RBC life span:

10 - 20 days

4

normal erythrocytes life span:

90-120 days

5

what ethnicity is most affected?

African American

6

Name three symptoms of sickle cell anemia.

- fatigue
- muscle pain (ischemia)
- anxiety

7

Name two signs of sickle cell anemia.

- jaundice
- icterus

8

Diagnostic tests:

1. peripheral blood smear
2. hemoglobin electrophoresis

9

Name three most concerning sequela for sickle cell.

1. hemorrhagic stroke
2. MI
3. severe retinopathy

10

t/f: sickle cell can not be cured

f

11

how is sickle cell cured?

bone marrow treatment