Beta Thalassemia Hb E

Question 1

This hemoglobinopathy is a mutation that impairs the rate of synthesis of beta globin chains and is quantitative

Answer 1

B-thalassemia

Question 2

Where is beta thal/Hg E most commonly found?

Answer 2

Southeast Asia

Question 3

What is the approximate worldwide percentage of severe beta thal attributed to beta thal/Hb E?

Answer 3

50%

Question 4

What normal hemoglobin does HGB E co-migrate with on both cellulose acetate and citrate gel?

Answer 4

HGB A2

Question 5

How is hydroxyurea used in the treatment of Beta thal/Hb E?

Answer 5

Increases y-chain production 2-9x (Hb F) therefore decreasing the a-chain imbalance and ineffective erythropoiesis

Question 6

Common lab values in beta-thal/Hb E? (Know how to differentiate from other values?)

Answer 6

Liver failure due to secondary hemochromatosis, decreased RBCS/HGB/HCT/MCHC, marked targets, aniso, elevated serum Fe/ferritin/Fe saturation/EPO, abnormal HGB migrating on gel

Question 7

This hemoglobinopathy is lysine–>glutamic acid substitution at 26th codon of the beta chain and is qualitative.

Answer 7

Hemoglobin E