G6PD Deficiency Anemia

Question 1

what is G6PD deficiency anemia?

Answer 1

an inherited disorder of erythrocyte metabolism

Question 2

what is the Lyon hypothesis?

Answer 2

in a heterozygous female, only 1 copy of the X chromosome is active in each cell so women can express different amounts of cells with the affected X chromosome which will correspond to the level of hemolysis

Question 3

what are characteristics of G6PD deficiency anemia?

Answer 3

X-linked and results in hemolysis of RBCs commonly after fever, acute viral/bacterial infections, and diabetic acidosis

Question 4

most clinically syndeomes of G6PD deficiency anemia?

Answer 4

• acute hemolytic anemia
• neonatal jaundice
• chronic non-spherocytic hemolytic anemia

Question 5

what is acute hemolytic anemia?

Answer 5

• G6PD deficiency
• exposure to oxidative stress
• symptoms within 48 hours

Question 6

what is considered oxidative stress in a person with G6PD deficiency?

Answer 6

ingestion of certain drugs (sulfa, aspirin, anti-malarials), exposure to moth balls, ingestion of fava beans, or infection (bacterial/viral)

Question 7

what are some signs and symptoms of acute hemolytic anemia?

Answer 7

irritability
fever
nausea
diarrhea
abdominal pain
possible jaundice
possible splenomegaly
possible hepatomegaly

Question 8

this type of anemia may present in the neonatal period when neonatal jaundice is accompanied by anemia in a male?

Answer 8

chronic non-spherocytic hemolytic anemia

Question 9

would a Coombs test be negative or positive with G6PD deficiency anemia?

Answer 9

negative because it is not immune-mediated

Question 10

what will you see on a blood smear of G6PD deficiency anemia?

Answer 10

• heinz bodies
• bite cells
• poikilocytosis
• anisocytosis

Question 11

what are 3 lab tests that you would use if you suspect your patient has G6PD deficiency anemia?

Answer 11

• long wave UV fluorescent spot testing (FST)
• DNA testing (if FST is positive)
• cyanide-ascorbate test (measures ability of RBCs to prevent oxidation of Hb by ascorbate)

Question 12

how can neonatal jaundice be treated?

Answer 12

phototherapy

Question 13

the precipitation of hemoglobin can cause what on a blood smear?

Answer 13

heinz bodies

Question 14

what can precipitate a hemolytic crisis in G6PD deficiency?

Answer 14

• sulfa antibiotics
• fava beans
• nitrofurantoin
• some antimalarial drugs