Sickle cell

Question 1

SS disease is AR/AD?

Answer 1

AR

Question 2

SSD disease of what gene?

Answer 2

beta globin gene - glu-> val

Question 3

When do RBC sickle?

Answer 3

deoxygenated, after many cycles, remains sickle -> removed by splene

Question 4

Differentiate SS trait, SS disease, and SS cell anemia

Answer 4

SS trait = S + A(normal)
SSD = S + X (not normal, beta 0, beta +, C)
SS cell = S + S

Question 5

Asian sickle cell gene vs african

Answer 5

aa/– vs a-/a-

Question 6

CBC of sickle cell disease

sickle cell; SC, SB thals

Answer 6

Howell-Jolly –> DNA/RNA cannot be removed by spleen
Target cells and Hbg Cyrstals in SC disease
Target + microcytosis in SB0 or SB + thal
Sickle cell

Question 7

Sickle trait

Answer 7

generally no consequence in Hct, Hgb, ret, size, and clinical severity

Rarely - hypoxic stress

Question 8

Name all type of sickle cell disease/traits from most severe to lease

Answer 8

SS/SB0; SB+, SC; AS

Question 9

Sickle cell disease therapies

Answer 9

Folate, penicilin, bone marrow transplantation, hydroxyurea, transfusion therapy