Heme Flashcards
(108 cards)
1
Q
What runs on each lane?
A
2
Q
What runs on each lane?
A
3
Q
What runs on each lane?
A
4
Q
What runs on each lane?
A
5
Q
What shifts the oxygen dissociation curve to the right? Left? What does it mean?
A
- Right: More oxygen to the tissue
- Fever
- Acidosis
- Increased 2,3 DPG
- Low affinity Hb
- Left: Less oxygen to the tissue
- High affnity Hb
- Hypothermia
- Alkalosis
- Decreased 2,3 DPG
6
Q
What conditions increase the osmotic fragility? Decrease?
A
- Increase (Pts curve to the right)
- Hereditary spherocytosis, elliptocytoisis, pyropoikilocytosis
- Decrease (Pts curve to the left)
- aplha and beta thalassemia
- Sickle cell disease
- Hemoglobin C
Anything that increases the SA of RBC will make it more fragile and decrease the SA wil make is less fragile.
7
Q
Name the AMLs with recurrent genetic abnormalities (4)
A
t(8;21) (Favorable)
i16 (Favorable)
t(15;17) (Favorable)
t(9;11) (intermediate)
8
Q
Which AML with reccurent geneitic abnormality has positive CD19?
A
t(8;21)
9
Q
Which AML with reccurent geneitic abnormality has the highest rate of KIT mutation in replasped cases?
A
t(8;21)
10
Q
Which AML with reccurent geneitic abnormality has large granules and auer rods?
A
t(8;21)
11
Q
Which AML with reccurent geneitic abnormality has abnormal eos?
A
i16
12
Q
Eos in AML with i16 stain with?
A
alpha naphthyl acetate esterase
13
Q
Which AML with reccurent geneitic abnormality is negative for HLA-DR and CD34?
A
t(15;17)
14
Q
Which AML with reccurent geneitic abnormality has a monoblastic differentiation and has a poor/intermediate prognosis?
A
t(9;11)
15
Q
Whats the criteria for RAEB 2?
Blood:
BM:
A
Blood: 5-19 % BLASTS
BM: 10-19% BLASTS
16
Q
Name the MD/MPN
A
CMML
aCML
JMML
17
Q
Which MD/MPN has hepatosplenomaegaly, anemia, thrombocytopenia, marrow dysplasia and absolute monocytosis of >1x109 /L
A
CMML
18
Q
JAK 2 V617F seen most freq in?
A
PV
19
Q
Blueberry muffin babies refers to?
A
Congenital acute leukemia
(AML vast majority is monocytic/monoblastic befor the age of 4 weeks)
20
Q
Expression of CD25 in systemic mastocytosis correlates with?
A
CKIT mutation
21
Q
MCV=?
A
MCV = HCT x 10/RBC
22
Q
Chloroacetate esterase stains?
A
aka Leder stain
granulocytic cells
mast cells
abnormal eos
23
Q
bcl-1 aka
A
cyclin D1
24
Q
CD4
A
Helper T
monocytes
histiocytes
dendritic cells
25
whats FMC 7?
ab against a particular epitope of CD20
26
Markers for Megs?
CD41 and CD61
GPIIb/IIIa complex
27
Name the genetic assoc
CML
BL
CLL/SLL
FL
MCL
MALT
LPL
ALCL
MDS
CML t(9;22) BCR/ABL
BL t(8;14) cMyc/IgH
CLL/SLL del 13q, 11q, +12
FL t(14;18) BCL2/IgH
MCL t(11;14) BCL1/IgH
MALT t(11;18) MLT/API2
LPL t(9;14) PAX5/IgH
ALCL t(2;5) ALK/NPM
MDS -5, -5q, -7, -7q, -8
28
What are the recurrent genetic abnormalities assoc with poor prognosis in ALL?
t(9;22) 190kd
t(v;11) MLL overexpress FLT3, and usualy absent CD10
Hypodiploid
t(1;19) E2A-PBX1
29
Name recurrent genetic abnormalities assoc with eos in ALL?
t(5;14) IL3-IGH
30
Which B lymphoma has the most freq bm involvment? pattern?
FL 30-40%
paratrabecular
31
Which B lymphoma has a nodular involvment of BM?
Intersitial?
_Nodular_
Mantle 10-20%
MZL 5%
_Interstitial_
Lymphoplasmacytic lymphoma
32
Which lymphomas express EMA? What cell expresses EMA?
ALCL
NLPHL
Primary effusion lymphoma
T cell rich B cell lymphoma
Plasma cell
33
What T cell lymphoma is associated with hypercalcemia?
ATCL
34
CD 25 is characteristically expressed in which lymphomas?
Hairy Cell
ATCL
35
Which lymphomas has t(11;14)?
Mantle
Multiple myeloma
36
CLL, Good and bad prognosis
Good: isolated 13 q and mutated IGHV
Bad: unmuated aka germline IGHVm ZAP 70, CD38, del 11, del 17
37
Whats the most common genetic abnormality of DLBCL?
BCL 2 or 6 rearrangments
BCL2 on Chrom 18 --\> more common in GCB t(14;18)
BCL6 on Chrom 3 --\> more common in ABC type t(3;14)
38
Name that disease and Gene!
AR chromosomal breakage syndrome
South Africans
Anemia/thrombocytopenia --\> aplastic anemia
Cafe au lait spots
Thumb and raidal anomalies
Short stature
Microcephaly
Fanconi anemia
FANCA chrom 19
FANCC chrom 9
FANCG chrom 9
39
Name that disease and gene!
AD
Anemia
Increased I antigen on RBC
elevated ADA
HbF increased
Thumb and radial anomalies
short stature
cardiac defects
Diamond Blackfan
DBA1/RPS19 Chrom 19
40
Name that disease!
Positive HAM's test
Erythroid precurosrs with internuclear bridges
AR
High I and i antigen on RBC
Anemia
Congenital dyserythropoietic anemia
Type 2 (HEMPAS) most common
41
Name that disease and gene!
AR
Neonates
No megs in BM
Thrombocytopenia --\> pancytopenia
Thumb and raidal anomalies
Congenital amergakryocytic thrombocytopenia
CMPL 1p34
42
Name that disease and gene!
AD
Neutropenia --\> aplastic anemia
Recurrent fever, cerical lymphadenopathy, oral ulcers, gingivitis, sinusitis, pharyngitis
Kostman syndrome
ELA2 (neutrophil elastase) 19p13
Cycline neutropenia/benign familial neutropenia has smiliar presentation and same mutation but the neutrophil counts cycles every 21 days from zero to normal.
43
Name that disease and gene!
Exocrine pancreatic insufficiency
bone marrow dysfunction
skeletal abnormalities
short stature.
• Shwachman-Diamond syndrome
○ Shwachman-Bodian-Diamond (SBDS) gene (7q11)
44
Microtubule polymerization defect (lysosomal trafficking regulator gene [LYST])
○ Anemia and neutropenia, recurrent infection (defect in phagocytosis), platelet dysfunction (first-wave aggregation only), oculocutaneous albinism, and neurologic defects
○ Abnormally giant granules in granulocytes that range in color from gray to red
Chédiak-Higashi syndrome
45
Eczema, thrombocytopenia, immune deficiency
Wiskott-Aldrich syndrome
46
Kikuchi characterized by?
Necrosis with No neutrophils
47
macrothrombocytopenia
sensorineural hearing loss
cataracts
nephritis
polymorphonuclear Döhle-like bodies.
defect in the MYH9 gene on chromosome 22
May-Hegglin anomaly
Others in the MYH9 family are
Fechtner, Sebastian, and Epstein syndromes
48
ANK1 is affected in?
Hereditary spherocytosis
49
Flow-eosin 5 test is used for?
Hereditary spherocytosis
50
In Hereditary elliptocytosis, how much elliptocytes do you need?
25%
51
Spectrin alpha chain defect in?
Hereditary elliptocytosis
52
Band 3 protein defect is seen in? Protective against?
Stomatocytic type of Hereditary elliptocytosis
P vivax
53
What type of RBC do you get with defects in the Na/K permeability?
Hereditary stomatocytosis
54
Name the associated CML phase
Leukocytosis, thrombocytosis, Low LAP, elevated B12
Progressive basophila (\>20%), blasts 10-20%, thrombocytosis (\>1 mil) or penia (\<100k), clonal cytogenetic progression
\>20% blasts, chloroma,
Chronic
Accelerated
Blast
55
G6PD belongs in what pathway?
Pentose phosphate pathway
56
How is G6PD and Pyruvate kinase deficiency inhereited?
G6PD : X linked recessive
Pyruvate Kinase : AR rescessive
57
Name drugs that induces hemolysis in G6PD
Methylene blue
sulfa containing drugs
nitrofurantoin
primaquine
58
Pyruvate kinase is in what pathway?
Embden-Meyerhof (Glycolysis) pathway
59
Name the chains!
HbA
A2, B2
60
Name the chains!
HbA2
A2 D2
61
Name the chains!
HbF
A2 Y2
62
Alpha chain is on chromosome?
16
63
Beta chain is on chromosome?
11
64
Name the beta chain variant!
glu--\> val on position 6
S
65
Name the beta chain variant!
Glu---\> Lys on position 6
C
66
Name the beta chain variant!
glu--\> Lys on position 26
E
67
Metabisulfite and dithionate tests are screening tests for?
HbS
68
SS rbc's have a lifespan of?
17 days
69
Instead of the A1c, what do you test for in SS pts?
Fructosamine
70
Thalassemic red cell indices can be seen in?
Hb E
Hb Constant spring
Hb Lepore
71
What hemoglobin is the results of delta and beta gene fusion?
Hb Lepore
72
How long is the alpha chain? beta chain? CS?
Alpha: 141
Beta: 146
CS: 172
73
Methemoglobin (Hi) is due to?
Hb with Fe+++ (ferric state)
74
What are some drugs that increase Hi?
Nitrites, quinones, phenacetin, sulfonamides
75
What can measure Hi? what cant?
Cooximeter is capable of measuring methemoglobin
ABG and pulse ox cant
This is the same with HbCo
76
How do you treat Hi?
methylene blue
77
At what percentage does Hi cause cyanosis? what about SHb (sulfhemoglobin)
Hi: 10 % or 1.5 G/dl
SHb: 3-4% or 0.5 G/dl
78
Whats the level of HbCO?
Normal
Smoker
Mild symptoms
Severe
Coma/death
Normal : 0.4 -2%
Smoker 2-6 %
Mild: 10-20%
Severe 20-50%
Coma/death \>50%
79
MCV/RBC count of \<13 favors? \>15?
\<13 : thalassemia
\>15: IDA
80
Whats the difference between delta/beta thalassemia and Hb Lepore?
Delta/beta : deletion of delta and beta
Normal A2, F at 15-20%
Hb Lepore: fusion of delta beta
Normal A2, F slightly elevated
band in the S lane
81
(-a/) or alpha thalassemia 2 is seen in?
African americans
82
(-- --/) or alpha thalassemia 1 is seen in?
Asians
83
M pneumonia infection is associated with anti?
I
84
EBV infection is associated with anti?
i
85
PNH is the results of ?
PIG-A mutation on X chromosome which causes decreased glycosyl phosphatidyl inositol (GPI) anchors
86
GPI anchored protein functions
to deflect complement mediated destruction
87
In PNH, cells have diminished expression of?
CD55 :decay accereating factor
CD59: membrane inhibitor of reactive lysis
AchE
CD16
CD48
88
What does Fluorescent aerolysin (FLAER), obtained from Aeromonas hydrophila bind?
GPI
89
ZPP is elevated in?
IDA
Fe + Protoporphyrin IX = Heme
Without Fe the protoporphyrin increases and binds to zinc forming ZPP
90
Whats a cofactor in methyl transfer reaction?
(dUMP to dTMP in DNA synthesis)
Folate
91
How is B12 absorbed?
Binds to R factor in the stomach
Released from R factor in the duodenum by pancreatic enzymes
binds to gastric derived Intrinsic factor
Absorbed in the ileum
binds to transcobalamin 1 and 2 in enterocytes
92
Elevated urinary FIGLU (formiminoglutamic acid) indicates?
folate deficiency
93
Elevated urinary methylmalonic acid indicates?
B12 deficiency
94
X linked sideroblastic anemia is due to?
ALAS2 gene
95
Name 4 erythropoietin (EPO) producing neoplasms
Uterine Leiomyoma
RCC
Cerebellar hemangioblastoma
HCC
96
Name that syndrome
Young adult female who smokes
Indented to bilobed lymphocyte with abundant pale cytoplasm
polyclonal IgM hypergammaglobulinemia
No cytopenia
HLA-DR7+
Syndrome of persistent polyclonal B lymphocytosis
97
Reider cells ( small mature lymphocytes with clefted nuclei) associated with?
Pertussis
98
Which cytokine stimulates eosinophils?
IL-5
99
Felty triad
RA
Splenomegaly
Neutropenia
100
What should you consider with monocytopenia?
Hairy cell leukemia
101
Quinidine is associated with autoantibody against GP\_\_
GP IX
as in GPIb/V/IX complex aka CD42
102
ITP is caused by autoantibodies against?
GPIb, GPIIb(CD41), GPIIIa(CD61)
103
Neutrophila (with all ages present), blasts \<20%, marrow dysplasia, cytogentic abnormalities, absence of philadelphia chromosom
aCML
104
cytogenetics seen in aCML?
+8 or del 20q
some has JAK2
105
Name the MPN
CML
PV
ET
PMF
CEL
CNL
Mastocytosis
106
BCR is on chromosome
22
107
u-BCR break point with located where and what is it assocciated with?
230
thrombocytosis and leukemic neutrophils
108
Name the MPN
Hgb \>18.5M or 16.5F; splenomegaly, hypercellular marrow, low erythropoietin
BM: intrasinusoidal hematopoiesis
\>450K plts
PV
PMF
ET
JAK2 V617F seen in all cases of PV, and 50% of cases in ET and PMF
