Heme Flashcards
What runs on each lane?

What runs on each lane?
What runs on each lane?
What runs on each lane?
What shifts the oxygen dissociation curve to the right? Left? What does it mean?
- 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
What conditions increase the osmotic fragility? Decrease?
- 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.
Name the AMLs with recurrent genetic abnormalities (4)
t(8;21) (Favorable)
i16 (Favorable)
t(15;17) (Favorable)
t(9;11) (intermediate)
Which AML with reccurent geneitic abnormality has positive CD19?
t(8;21)
Which AML with reccurent geneitic abnormality has the highest rate of KIT mutation in replasped cases?
t(8;21)
Which AML with reccurent geneitic abnormality has large granules and auer rods?
t(8;21)
Which AML with reccurent geneitic abnormality has abnormal eos?
i16
Eos in AML with i16 stain with?
alpha naphthyl acetate esterase
Which AML with reccurent geneitic abnormality is negative for HLA-DR and CD34?
t(15;17)
Which AML with reccurent geneitic abnormality has a monoblastic differentiation and has a poor/intermediate prognosis?
t(9;11)
Whats the criteria for RAEB 2?
Blood:
BM:
Blood: 5-19 % BLASTS
BM: 10-19% BLASTS
Name the MD/MPN
CMML
aCML
JMML
Which MD/MPN has hepatosplenomaegaly, anemia, thrombocytopenia, marrow dysplasia and absolute monocytosis of >1x109 /L
CMML
JAK 2 V617F seen most freq in?
PV
Blueberry muffin babies refers to?
Congenital acute leukemia
(AML vast majority is monocytic/monoblastic befor the age of 4 weeks)
Expression of CD25 in systemic mastocytosis correlates with?
CKIT mutation
MCV=?
MCV = HCT x 10/RBC
Chloroacetate esterase stains?
aka Leder stain
granulocytic cells
mast cells
abnormal eos
bcl-1 aka
cyclin D1
CD4
Helper T
monocytes
histiocytes
dendritic cells
whats FMC 7?
ab against a particular epitope of CD20
Markers for Megs?
CD41 and CD61
GPIIb/IIIa complex
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
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
Name recurrent genetic abnormalities assoc with eos in ALL?
t(5;14) IL3-IGH
Which B lymphoma has the most freq bm involvment? pattern?
FL 30-40%
paratrabecular
Which B lymphoma has a nodular involvment of BM?
Intersitial?
Nodular
Mantle 10-20%
MZL 5%
Interstitial
Lymphoplasmacytic lymphoma
Which lymphomas express EMA? What cell expresses EMA?
ALCL
NLPHL
Primary effusion lymphoma
T cell rich B cell lymphoma
Plasma cell
What T cell lymphoma is associated with hypercalcemia?
ATCL
CD 25 is characteristically expressed in which lymphomas?
Hairy Cell
ATCL
Which lymphomas has t(11;14)?
Mantle
Multiple myeloma
CLL, Good and bad prognosis
Good: isolated 13 q and mutated IGHV
Bad: unmuated aka germline IGHVm ZAP 70, CD38, del 11, del 17
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)
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
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
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
Name that disease and gene!
AR
Neonates
No megs in BM
Thrombocytopenia –> pancytopenia
Thumb and raidal anomalies
Congenital amergakryocytic thrombocytopenia
CMPL 1p34
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.
Name that disease and gene!
Exocrine pancreatic insufficiency
bone marrow dysfunction
skeletal abnormalities
short stature.
• Shwachman-Diamond syndrome
○ Shwachman-Bodian-Diamond (SBDS) gene (7q11)
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
Eczema, thrombocytopenia, immune deficiency
Wiskott-Aldrich syndrome
Kikuchi characterized by?
Necrosis with No neutrophils
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
ANK1 is affected in?
Hereditary spherocytosis
Flow-eosin 5 test is used for?
Hereditary spherocytosis
In Hereditary elliptocytosis, how much elliptocytes do you need?
25%
Spectrin alpha chain defect in?
Hereditary elliptocytosis
Band 3 protein defect is seen in? Protective against?
Stomatocytic type of Hereditary elliptocytosis
P vivax
What type of RBC do you get with defects in the Na/K permeability?
Hereditary stomatocytosis
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
G6PD belongs in what pathway?
Pentose phosphate pathway
How is G6PD and Pyruvate kinase deficiency inhereited?
G6PD : X linked recessive
Pyruvate Kinase : AR rescessive
Name drugs that induces hemolysis in G6PD
Methylene blue
sulfa containing drugs
nitrofurantoin
primaquine
Pyruvate kinase is in what pathway?
Embden-Meyerhof (Glycolysis) pathway
Name the chains!
HbA
A2, B2
Name the chains!
HbA2
A2 D2
Name the chains!
HbF
A2 Y2
Alpha chain is on chromosome?
16
Beta chain is on chromosome?
11
Name the beta chain variant!
glu–> val on position 6
S
Name the beta chain variant!
Glu—> Lys on position 6
C
Name the beta chain variant!
glu–> Lys on position 26
E
Metabisulfite and dithionate tests are screening tests for?
HbS
SS rbc’s have a lifespan of?
17 days
Instead of the A1c, what do you test for in SS pts?
Fructosamine
Thalassemic red cell indices can be seen in?
Hb E
Hb Constant spring
Hb Lepore
What hemoglobin is the results of delta and beta gene fusion?
Hb Lepore
How long is the alpha chain? beta chain? CS?
Alpha: 141
Beta: 146
CS: 172
Methemoglobin (Hi) is due to?
Hb with Fe+++ (ferric state)
What are some drugs that increase Hi?
Nitrites, quinones, phenacetin, sulfonamides
What can measure Hi? what cant?
Cooximeter is capable of measuring methemoglobin
ABG and pulse ox cant
This is the same with HbCo
How do you treat Hi?
methylene blue
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
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%
MCV/RBC count of <13 favors? >15?
<13 : thalassemia
>15: IDA
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
(-a/) or alpha thalassemia 2 is seen in?
African americans
(– –/) or alpha thalassemia 1 is seen in?
Asians
M pneumonia infection is associated with anti?
I
EBV infection is associated with anti?
i
PNH is the results of ?
PIG-A mutation on X chromosome which causes decreased glycosyl phosphatidyl inositol (GPI) anchors
GPI anchored protein functions
to deflect complement mediated destruction
In PNH, cells have diminished expression of?
CD55 :decay accereating factor
CD59: membrane inhibitor of reactive lysis
AchE
CD16
CD48
What does Fluorescent aerolysin (FLAER), obtained from Aeromonas hydrophila bind?
GPI
ZPP is elevated in?
IDA
Fe + Protoporphyrin IX = Heme
Without Fe the protoporphyrin increases and binds to zinc forming ZPP
Whats a cofactor in methyl transfer reaction?
(dUMP to dTMP in DNA synthesis)
Folate
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
Elevated urinary FIGLU (formiminoglutamic acid) indicates?
folate deficiency
Elevated urinary methylmalonic acid indicates?
B12 deficiency
X linked sideroblastic anemia is due to?
ALAS2 gene
Name 4 erythropoietin (EPO) producing neoplasms
Uterine Leiomyoma
RCC
Cerebellar hemangioblastoma
HCC
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
Reider cells ( small mature lymphocytes with clefted nuclei) associated with?
Pertussis
Which cytokine stimulates eosinophils?
IL-5
Felty triad
RA
Splenomegaly
Neutropenia
What should you consider with monocytopenia?
Hairy cell leukemia
Quinidine is associated with autoantibody against GP__
GP IX
as in GPIb/V/IX complex aka CD42
ITP is caused by autoantibodies against?
GPIb, GPIIb(CD41), GPIIIa(CD61)
Neutrophila (with all ages present), blasts <20%, marrow dysplasia, cytogentic abnormalities, absence of philadelphia chromosom
aCML
cytogenetics seen in aCML?
+8 or del 20q
some has JAK2
Name the MPN
CML
PV
ET
PMF
CEL
CNL
Mastocytosis
BCR is on chromosome
22
u-BCR break point with located where and what is it assocciated with?
230
thrombocytosis and leukemic neutrophils
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