Sickle Cell

Question 1

Which type of Sickle cell disease hemoglobin is associated with a glutamic acid to glutamine mutation?

Answer 1

D puNjab= 121 gly->Glu

“iraN, iNdia, pakistan”

Question 2

Sickle Cell anemia and Sickle-B0 thalassemia have very similar clinical lab values. How can they be distinguished?

Answer 2

Sickle cell anemia has a normal MCV whereas Sickle-B0 Thal has a small MCV.

They both have [Hb] of 6-9 and retic counts of 5-30%

Question 3

Sickle Hb C and Sickle-B+ thalassemia have very similar clinical lab values. How can they be distinguished?

Answer 3

Hb-C has Normal MCV.

B+ has small MCV

Also Hb C has a Hb count of 10-12.
B+ is 11-13

Both have 3-5% retic counts.

Question 4

The MCV of all B thalassemia traits are_________

Answer 4

low

Question 5

What is Sickle trait? Is it benign?

Answer 5

Having one copy of the Sickle cell gene.

There are an increasing number of complications associated with carrying the trait.

Question 6

What is acute chest syndrome?

Answer 6

It is a vaso-occlusive crisis caused by sickle cell accumulation in the pulmonary vessels.

Question 7

In the past, many patients with SCD died of….

Answer 7

Infections.

Dysfunctional spleen (splenic infarction).

Succeptible to Strep, Influenza, and Meningococcus.

Question 8

T/F Sickle-B+ patients are at high risk for stroke.

Answer 8

False:

Only the more severe SS or SB0 phenotypes are at a high risk for stroke.

Question 9

What is the leading cause of death in Adults with SCD?

Answer 9

Sickle Lung Disease:

Progresses from obstructive to restrictive lung disease and pulmonary hypertension.

Question 10

T/F Serum Creatinine is a NOT good measure for Glomerular filtration in SS patients

Answer 10

True.

Hyperfiltration messes with the lvls.

Question 11

If you only see F hemoglobin on a newborn screen that means…

Answer 11

The baby has B0 thal or colley’s.