Intrinsic Normocytic Anemia

Question 1

There are 3 defects in intrinsic Normocytic Anemia, what are they?

Answer 1

RBC membrane defect
RBC enzyme defect
Hb defect

Question 2

RBC membrane defects are?

Answer 2

Hereditary Spherocytosis

Paroxysmal Nocturnal Dyspnea

Question 3

Pathogenesis of Hereditary Spherocytosis?

Answer 3

Defect in proteins (ankyrin, band 3, protein 4.2, spectrin) interacting with RBC membrane and Plasma membrane
=>Round RBCs w/no central pallor

Question 4

Findings Suggestive of Hereditary Spherocytosis?

Answer 4

Increased MCHC and RDW

Question 5

Two Consequences of Spherocytosis?

Answer 5

Hypertrophic Splenomegaly and aplastic crisis with Parvovirus B19

Question 6

Labs of Spherocytosis?

Answer 6

+ Osmotic fragility test=>Not resistant to hypotonic solution

Question 7

Paroxysmal Nocturnal Hemogobinuria (PNH) Pathogenesis? What do these proteins normally do?

Answer 7

Pathogensis: *Acquired mutation (occurs later in life) in Impaired synthesis of GPI (DAF and MIRL)

GPI=>kills complement

Question 8

Consequence of PNH?

Answer 8

Increased complement mediated RBC lysis

Question 9

PNH Triad?

Answer 9

Hemolytic anemia, pancytopenia and venous thrombosis

Question 10

Why does it only happen at night?

Answer 10

At night, shallow breathing=> Increased CO2 retained=>resp acidosis=> complement activated

Question 11

PNH Labs? Tx?

Answer 11

CD55/59 RBCs on flow cytometry

Eculizumab

Question 12

Complication of PNH?

Answer 12

Increased incidence of acute leukemia

Question 13

Most common enzymatic disorder of RBCs?

Answer 13

G6PD def

Question 14

G6PD def. genetics?

Answer 14

X-Linked

Question 15

G6PD def MOA?

Answer 15

Decreased glutathione and increased RBC stress

Question 16

G6PD def hemolytic anemia following stress oxidants like?

Answer 16

Sulfa drugs, antimalarials, infections, fava beans

Question 17

G6PD def what cells do you get?

Answer 17

Bite Cells

Question 18

Pyruvate def. genetics?

Answer 18

AR

Question 19

Pyruvate def. MOA?

Answer 19

Decreased ATP

Question 20

HbC mnemonic?

Answer 20

HbC has LyCine and Hb Crystals

Question 21

Sickle Cell anemia MOA?

Answer 21

HbS point mutation=> single amino acid replacement in β chain (substitution of glutamic acid with valine)

Question 22

Sickle cell anemia is seen in?

Answer 22

Low O2 states

Question 23

In Low O2 states, anemic patients sickle. What does that mean?

Answer 23

Deoxygenated HbS polymerizes

Question 24

Newborns are protected from Sickling because they have increased?

Answer 24

HbF

Question 25

Therefore Tx for Sickle cell is?

Answer 25

Hydroxyurea (increased HbF)

Question 26

Sickle cell anemia x-ray?

Answer 26

Crew cut on skull-x-ray due to marrow expansion

Question 27

Sickle cell trait are asym because they have HBs

Answer 27

50%

Renal Medulla

Question 28

Complication of Sickle Cell Disease? MCC of death?

Answer 28

1. Increased risk of infection by encapsulated organisms (SHiNE SKis)=>MCC of death
2. Salmonella osteomyeltitis
3. AA infant will have dactylitis (painful swelling)