Hemepath Rbc

Front 1

what is characterized by GALLSTONES, JAUNDICE, SPLENOMEGALY, and echinocytes on PB smear?

Back 1

pyruvate kinase deficiency

Hint 1

recessive inherited
chronic hemolysis 2/2 ATP depletion
autohemolysis test + but does not normalize with glucose (like HS)

Front 2

PB smear ++ Heinz bodies (with supravital stain)

Back 2

G6PD deficiency
NADPH low - normally protects from oxidative damage

Hint 2

x-linked
oxidative stress caused by: medications, FAVA BEANS, infection

Front 3

indices:
INCREASED RBC count &
LOW MCV

Back 3

THALASSEMIA = quantitative defect in production of normal hemoglobins

Hint 3

no abnormal electrophoresis bands

beta thal --> INCREASED A2
alpha thal - normal A2

Front 4

corrected reticulocyte count

Back 4

CRC = % retics x Hct/45

Front 5

reticulocyte production index

Back 5

RPI = CRC x 1/correction factor

Hint 5

correction factor =
1 if Hct normal (45)
2 if Hct 30
3 if Hct 15

Front 6

Diagnosed by either osmotic fragility test or autohemolysis test

Back 6

Hereditary Spherocytosis

Hint 6

autohemolysis test corrects with glucose
increased MCHC, spherocytes
LDH and bilirubin increased 2/2 extravascular hemolysis

Front 7

most common red cell disorder in people of northern european descent

Back 7

Hereditary Spherocytosis

Front 8

affected RBCs characterized by diminished:
CD55 &
CD59

Back 8

PNH (paroxysmal nocturnal hemoglobinuria)

Hint 8

acquired clonal red cell disorder
defect in GPI anchors (encoded by PIG-A gene)

Front 9

classic clinical picture of PNH

Back 9

episodic hemolysis at night

chronic normocytic normochromic anemia

Hint 9

eventually MAY be progression to:
aplastic anemia
and/or AML

Front 10

acidified serum (Ham) test in PNH

Back 10

enhanced hemolysis in BOTH
heterologous and homologous serum

Front 11

acidified serum (Ham) test in CDA type II (congenital dyserythropoietic anemia)

Back 11

hemolysis in heterologous serum ONLY

due to abnormal rbc antigen, which 1/3 of normal people have Ab

Hint 11

multinucleate erythroid precursors

RARE disorder, type II most common

Front 12

most common acquired sideroblastic anemia

Back 12

refractory anemia with ringed sideroblasts
clonal stem cell defect

Hint 12

adults: macrocytic, hypochromic anemia
BM >15% rings
chromosomal abn in 25-50%

Front 13

2 major causes of acquired pure red cell aplasia

Back 13

thymoma
parvovirus B19

Hint 13

especially spindle cell/medullary cell type of thymoma

Front 14

congenital pure red cell aplasia

Back 14

Blackfan-Diamond Syndrome

Hint 14

usually evident by age 5
i antigen overexpressed on RBCs
Hb F increased
75% respond to steroids

Front 15

Fanconi Anemia

Back 15

inherited disorder
may lead to APLASTIC ANEMIA

Hint 15

aut recessive
chromosomal breakage syndrome

Front 16

Fanconi anemia

clinical manifestations

Back 16

skin pigmentation (cafe-au-lait, etc)
skeletal abnormalities (abn radii, scoliosis, etc)
horseshoe kidney
short stature
microphthalmia
mental retardation

Hint 16

aplastic anemia by age of 10
long-term: MDS or AML can develop

Front 17

chromosomal breakage syndromes

name 3 common
2 more for bonus

Back 17

Fanconi Anemia
Xeroderma pigmentosum
Atangia Telangiectasia
bonus: Bloom syndrome & Cockayne syndrome

Hint 17

can be confirmed with cytogenetic studies

Front 18

prevalence of sickle cell trait (SA) in African Americans

Back 18

10%

Hint 18

beta6glu-->val

Front 19

average lifespan of sickled red blood cells in PB

Back 19

17 days (vs. normal 120)

Front 20

seven classic sickle cell nephropathies

Back 20

gross hematuria, papillary necrosis, nephrotic syndrome, renal infarction, isosthenuria, pyelonephritis, renal medullary carcinoma

Hint 20

isosthenuria = urine specific gravity is same as plasma (kidneys can't concentrate or dilute)

Front 21

renal tumor associated with sickle cell disease, sickle cell trait, and SC dz

Back 21

medullary carcinoma

Front 22

sickle cell trait electrophoresis

Back 22

35-45% HbS
50-55% HbA
1-3% HbA2
<1% HbF

Hint 22

60:40 ratio A:S

Front 23

tests for sickle cell

Back 23

dithionite solubility (Sickledex)

metabisulfite sickling test

Hint 23

lysed RBCs incubated with dithionate -- precipitates HbS

metabisulfite promotes Hb deoxygenation

Front 24

when ALPHA thal is coinherited with sickle cell trait, what happens to the PERCENTAGE of HbS?

Back 24

DECREASED %
single cell deletion - 30-35% HbS
two gene deletion - 25-30% HbS

Front 25

when BETA thal is coinherited with sickle cell trait, what happens to the PERCENTAGE of HbS?

Back 25

INCREASED % of HbS
>50%

Front 26

SC disease

Back 26

double heterozygosity for HbS and HbC

50% HbS

Hint 26

manifestations b/w SS and SA

PB smear: mild sickling, abundant TARGET cells

Front 27

lifespan of SC cells

Back 27

27 days
vs. 17 days for SS
vs. 120 normal

Front 28

sickle-associated diseases that are MORE common in SC

Back 28

avascular necrosis of bone &
proliferative retinopathy

Front 29

hemoglobin A2 prime in HPLC

Back 29

minor peak in S area

Hint 29

in looking for elevated A2 for beta thal trait, must ADD A2 and A2 prime

Front 30

HbC trait

Back 30

beta6glu--> lys
40-50% in C band (HbA2 and HbC)

Hint 30

asymptomatic, scattered target cells

Front 31

HbC disease

Back 31

90% HbC
7%HbF, 3% HbA2, no HbA
hemolytic anemia, splenomegaly, numerous TARGET cells

Hint 31

hexagonal or rod-shaped CRYSTALS, especially after splenectomy

Front 32

HbE

Back 32

beta26glu--> lys
common in SE Asia
thalassemic indices, numerous targets

Front 33

HbD&G

Back 33

clinically normal

Hint 33

cellulose (normal): runs with HbS
citrate (acid): runs with HbA

Front 34

HbLepore

Back 34

Mediterranean, esp Italy
Suspect when there is a band <30% (~15%) at HbS
HbF may be as high as 20%

Hint 34

fusion b/w gamma and beta genes

Front 35

Hb Constant Spring (CS)

Back 35

thalassemic indices

Hint 35

gene is unstable, insufficient

Front 36

high oxygen affinity hemoglobins

Back 36

Hb Chesapeake & Hb Denver

cannot be resolved on electrophoresis

clue: erythrocytosis on CBC

Hint 36

left shifted oxygen dissociation curves

Front 37

Unstable hemoglobins

peripheral smear findings

Back 37

Heinz bodies
Bite cells

Hint 37

examples: Hasharon, Koln, Zurich, Hammersmith (only one a/w severe hemolysis)

Front 38

Methemoglobin

Back 38

Hi
OXIDIZED
FERRIC 3+
instead of usual ferrous 2+

Hint 38

incapable of combining with oxygen

Front 39

At what level does cyanosis result from Hi (methemoglobinuria)?

Back 39

10% of total Hb or
1.5g/dL

Hint 39

normal 1.5%

Front 40

treatment for methemoglobinemia

Back 40

methylene blue

reduces Hi to Hb

Front 41

sulfhemoglobin (SHb)

Back 41

formed when Hb is oxidized in the presence of sulfur --> if further oxidized, precipitates to form Heinz bodies

Hint 41

SHb cannot transport oxygen
cannot be reduced to Hb

Front 42

At what level does cyanosis result from SHb (Sulfhemoglobin)?

Back 42

3-4% of total Hb or
0.5g/dL

Hint 42

normal <1%

Front 43

Hemoglobion alpha genes are located on what chromosome?

Back 43

16

Front 44

Hemoglobion beta genes are located on what chromosome?

Back 44

11p15.5