7 - Hemolytic Anemia - Hereditary Causes

Question 1

inheritance pattern for hereditary spherocytosis

Answer 1

AD

Question 2

hereditary spherocytosis is generally associated with mutation in ___, which needs to interact with ____ & _____ to make the correct shape

Answer 2

ankyrin, spectrin, band 3

Question 3

in hereditary spherocytosis, the vertical or horizontal interactions are not intact?

Answer 3

vertical

Question 4

mutations in ____ will result in acanthocytic hereditary spherocytosis, while mutations in ____ result in pincered HS

Answer 4

beta spectrin

band 3

Question 5

where do spherocytes die?

Answer 5

spleen - get trapped because they arent very deformable

Question 6

what happens to MCHC in HS?

Answer 6

increased - dehydration due to inc volume to SA ratio

Question 7

what diagnostic test confirms the presence of spherocytes (not PBS)?

Answer 7

osmotic fragility - spherocytes will show increase

Question 8

clinical consequences of HS

Answer 8

hemolytic crises during infections
aplastic crises w/ parvo B19
gallstones
jaundice w/ indirect hyperbilirubinemia
folate deficiency
rarely: pulm HTN, leg ulcers

Question 9

HS treatment

Answer 9

folate supplementation

splenectomy - falling out of favor

Question 10

pathophys of HE

Answer 10

faulty horizontal interactions due to mutation in beta or alpha spectrin genes
membrane is not as elastic and more plastic > once it stretches, it stays stretched

Question 11

what causes blebbing, and what hereditary anemia is it associated with?

Answer 11

HE

mutated spectrin isnt heat stable - precipitates and forms blebs

Question 12

inheritance pattern for HE

Answer 12

AD

Question 13

subtype of HE with bizarre blebbing and microspherocytes

Answer 13

hereditary pyropoikilocytosis

Question 14

Heinz bodies

Answer 14

hemoglobin aggregates attached to the membrane stained with crystal violet
assoc with G6PD deficiency, also alpha thalassemias

Question 15

blister cells are assoc with ____. Why do they look that way?

Answer 15

G6PD deficiency

oxidized Hb doesnt take up dye in Wright’s stain

Question 16

how do you diagnose G6PD deficiency

Answer 16

measure levels of G6PD 4 mos AFTER episode - during/right after an episode, only the young normal cells with be left

Question 17

G6PD deficiency is assoc w/ what ethnicity?

Answer 17

african american

Question 18

compounds assoc w/ oxidant hemolysis in G6PD deficiency?

Answer 18

antimalarials
sulfonamides/sulfones
nitrofuratoin
methylene blue
naphthalene
rasburicase

Question 19

G6PDD inheritance pattern

Answer 19

x linked

Question 20

2 PBS findings in G6PDD

Answer 20

blister cells

Heinz bodies

Question 21

PK deficiency PBS finding

Answer 21

echinocytes - can’t make ATP > can’t maintain Na-K gradient