BLI 8 - Normocytic Anemia (Siddiqui)

Question 1

Spectrin Ankyrin Band 3 Protein 4.2

Answer 1

Hereditary spherocytosis

Question 2

Northern European ancestry

Answer 2

Hereditary spherocytosis

Question 3

G6PD deficiency: severe

Answer 3

Mediterranean variant

Question 4

MC erythrocyte enzyme defect 1:10 African-American males

Answer 4

G6PD deficiency

Question 5

RI < 2%

Answer 5

Defective production (bone marrow suppression)

Question 6

Abdominal and low back pain

Red or dark urine

Heinz bodies

Bite cells

Answer 6

G6PD deficiency

Question 7

Northern European Pennsylvania Amish

Answer 7

Pyruvate Kinase Deficiency

Question 8

Chronic hemolytic anemia with echinocytes on peripheral smear

Answer 8

Pyruvate Kinase Deficiency

Question 9

Associated with: Aplastic anemia AML MDS

Answer 9

Paroxysmal nocturnal hemoglobinuria

Question 10

Low haptoglobin

High LDH

High unconjugated bili

Hemoglobinemia

Hemogloinuria

Hemosiderinuria

Answer 10

Hemolytic anemia - intravascular hemolysis

Question 11

When should G6PD activity never be tested?

Answer 11

acute hemolytic episode –> false negative risk older cells are selectively destroyed and surviving young cells have normal G6PD activity

Question 12

Denatured hemoglobin within RBC

Answer 12

Heinz bodies

Question 13

Glutathione in reduced state

Answer 13

RBC protection against ROS

Question 14

X linked recessive loss of cell protection against ROS

Answer 14

G6PD deficiency

Question 15

Splenomegaly Jaundice Pigmented gallstones

Answer 15

Hemolytic anemia - extravascular hemolysis

Question 16

Destruction of RBC within vessels

Answer 16

Intravascular hemolysis

Question 17

CD55 (DAF) CD59 (MIRL)

Answer 17

Paroxysmal nocturnal hemoglobinuria

Question 18

Increased osmotic fragility Increased MCHC

Answer 18

Hereditary spherocytosis

Question 19

2nd most common enzymatic deficiency

Answer 19

Pyruvate Kinase Deficiency

Question 20

Drugs that induce hemolysis in G6PD deficient individuals

Answer 20

Primaquine Sulfonamides Nitrofuradantoin Dapsone

Question 21

Anemia with increased RI due to (2):

Answer 21

Blood loss - acute/chronic Increased destruction (hemolytic) - intrinsic/extrinsic

Question 22

G6PD deficiency: mild

Answer 22

African variant

Question 23

Aplastic crisis (Parvo B19)

Answer 23

Hereditary spherocytosis

Question 24

G6PD deficiency leads to what kind of hemolysis?

Answer 24

Intravascular

Question 25

RI >/= 2%

Answer 25

Decreased RBC survival (blood loss or hemolysis)

Question 26

Complement-mediated intravascular hemolysis

Answer 26

Paroxysmal nocturnal hemoglobinuria

Question 27

Inherited defects in RBC membrane

Answer 27

Hereditary spherocytosis

Question 28

Still in the process of synthesizing Hb

Answer 28

polychromasia

Question 29

Anemia with decreased RI due to:

Answer 29

Impaired proliferation (hypoproliferation) - IDA, Macrocytic, ACD, myelophthisic, aplastic anemia

Question 30

Destruction of RBC in spleen, liver, or lymph node

Answer 30

Extravascular hemolysis

Question 31

Acquired defect in myeloid stem cells PIGA gene on Chrom. X

Answer 31

Paroxysmal nocturnal hemoglobinuria

Question 32

Absent GPI anchors

Answer 32

Paroxysmal nocturnal hemoglobinuria

Question 33

MC cause of mortality in Paroxysmal nocturnal hemoglobinuria

Answer 33

Thrombophilia –> acute thrombotic event & die