Hematology Flashcards
1
Q
Neutrophilic Chemotactic Agents
A
C5a, IL-8, LTB4, kallikrein, platelet-activating factor
2
Q
What binds CD14 on macrophage?
A
Lipid A from bacterial LPS –> septic shock
3
Q
Basophilia
A
CML
4
Q
What prevents mast cell degranulation?
A
Cromalyn sodium
5
Q
Primary target of HIV?
A
CD4+
6
Q
Which Ig crosses placenta?
A
IgG
7
Q
ABO Hemolytic Disease of Newborn
A
Type O mom –> anti-A and anti-B IgG cross placenta –> mild jaundice in neonates that are type A, B, or AB
8
Q
What do Weibel-Palade bodies produce?
A
P-selectin
vWF
9
Q
Ristocetin?
A
- Activates vWF to bind GpIb
- Failure of agglutination with ristocetin assay = vWF disease and Bernard-Soulier Syndrome
10
Q
Acatnthocytes = “spur cells”
A
Liver disease, abatelipoproteinemia (cholesterol dysregulation)
11
Q
Basophilic stippling
A
Lead poisoning
12
Q
“Bite cell”
A
G6PD Deficiency
13
Q
Echinocyte = “burr cell”
A
Renal/liver DZ, pyruvate kinase deficiency
14
Q
Ringed Sideroblast
A
Sideroblastic anemia - increased Fe in mt
15
Q
Schistocyte = “helmet cell”
A
DIC
TTP/HUS
HELLP
Mechanical hemolysis
16
Q
Spherocyte (no central pallor)
A
Hereditary spherocytosis (spectrin, ankyrin) Drug- and infection-induced hemolytic anemia
17
Q
Target Cell (decreased cytoplasm or increased membrane)
A
HbC Disease
Asplenia
Liver DZ
Thalssemia
18
Q
Heinz Bodies
A
G6PD Deficiency (Hb precipitation)
19
Q
Howell-Jolly Bodies
A
Functional hyposplenia or asplenia
20
Q
Plummer Vinson Syndrome
A
Fe deficient anemia + esophageal webs + dysphagia
- and atrophic glossitis (beefy red tongue)
21
Q
Labs in Fe deficient anemia?
A
Decreased iron Increased TIBC (transport) Decreased ferritin (decreased Fe stores)
22
Q
Alpha Thalassemia Mutation
A
- Alpha-globin gene deletion –> decreased alpha-globin synthesis
- Cis: both deletions on same Chr (Asian)
- Trans: deletions occur on separate Chr (African)
- 4 allele deletion = no alpha-globin –> excess gamma-globin forms gamma4 = Hb Barts
- 3 allele deletion = very little alpha-globin –> excess beta-globin forms beta4 (HbH)
23
Q
Beta-Thalassemia Mutation
A
- Point mutation in splice site and promotor sequence –> defective mRNA –> beta-globin synthesis decreased
24
Q
How is beta-thalassemia minor confirmed?
A
Increased HbA2 on electrophoresis
25
What does peripheral smear look like of beta-thalassemia major?
Microcytic, hypochromic anemia
Target cells
Anisopoikilocytosis
26
Rx for beta-thalassemia major?
Blood transfusion --> risk of secondary hemochromatosis
27
Presentation of beta-thalassemia major?
"Crew cut" on skull x-ray
"Chipmunk" facies
Extramedullary hematopoeisis --> hepatosplenomegaly
28
Electrophoresis of beta-thalassemia major?
Increased HbF (alpha2gamma2)
29
What are beta-thalassemia major patients at increased risk for?
Parvovirus-B19 induced aplastic crisis
30
Lead poisoning enzymes
| - Microcytic anemia
Ferrochelatase and ALA dehydratase
31
Buzzwords for lead poisoning
```
BASOPHILIC STIPPLING
Led lines on gingivae (Burton lines)
Sideroblastic anemia
Wrist/foot drop
Increased protoporphyrin
```
32
Treatment of lead poisoning
Dimercaprol and EDTA are 1st line
| Succimer in kids
33
Sideroblastic Anemia Mutation
| - Microcytic anemia
X-linked defect in S-ALA synthase gene (rate-limiting step in protoporphyrin synthesis)
- Requires B6 as cofactor
34
Causes of sideroblastic anemia?
- Genetic
- Acquired (myelodysplastic syndrome)
- Reversible (alcohol, lead, B6 deficiency, copper deficiency, Isoniazid)
35
Sideroblastic anemia labs?
- Increased iron
- Normal/decreased TIBC
- Increased ferritin
- RINGED SIDEROBLAST (iron-laden Prussian blue-staned mt)
- basophilic stippling
- Decreased protoporphyrin
36
Treatment of sideroblastic anemia?
B6 (pyridoxine)
37
Which tapeworm can cause B12 deiciency?
Diphyllobothrium latum
38
Which spinal pathways are involved in subacute combined degeneration (B12 deficiency)?
Spinocerebellar (ataxia)
Lateral corticospinal tract (voluntary movement)
Dorsal column (P, vibration, fine touch, proprioception)
39
Orotic Aciduria Defect
| - Macrocytic anemia
UMP Synthase defect --> can't convert orotic acid to UMP (de novo pyrimidine synthesis pathway)
- AR
40
Treatment of orotic aciduria?
Uridine monophosphate
41
Presentation of orotic aciduria?
- Kids
- FTT, developmental delay, megaloblastic anemia refractory to folate or B12
- NO hyperammonemia
42
Diamond-Blackfan Anemia
Rapid-onset anemia within 1st year of life due to intrinsic defect in erythroid progenitor cells
43
Intravascular Hemolysis Findings
- Mechanical hemolysis
- Paroxysmal nocturnal hemoglobinuria
- Microangiopathic hemolytic anemias
- Decreased haptoglobin (binds Hb, Hb is released into circulation)
- Increased LDH
- Schistocytes and reticulocyts on smear
44
Extravascular Hemolysis Findings
- Macs in spleen clear RBCs
- Spherocytes
- Increased LDH
- Increased unconjugated bilirubin --> jaundice
45
Anemia of Chronic Disease MOA
- Increased hepcidin (IL-6)
| - Decrease release of iron from Macs, decreased iron absorption from gut
46
Anemia of Chronic DZ Findings
- Decreased iron
- Decreased TIBC
- Increased ferritin
47
Aplastic Anemia Findings
- Decreased reticulocyte count
- Increased EPO
- Pancytopenia
48
What does bone marrow look like in aplastic anemia?
- Hypocellular bone marrow with fatty infiltration
49
What is Fanconi anemia?
- DNA repair defect --> bone marrow failure
| - Short stature, increased incidence of tumors/leukemia, cafe-au-lait spots, thumb/radial defects
50
What cells does parvovirus B19 infect?
Progenitor RBCs --> temporarily halts erythropoiesis
| - Significant anemia in setting of preexisting marrow stress
51
Hereditary spherocytosis defect?
- RBC membrane skeleton and plasma membrane defect (ankyrin, spectrin)
52
Hereditary spherocytosis findings?
- Spherocytes
- Increased MCHC
- Splenomegaly
- Aplastic crisis (parvovirus B19)
53
What is the test for hereditary spherocytosis?
Osmotic fragility test + (glycerol)
54
G6PD deficiency defect?
- X-linked recessive defect in G6PD --> decreased NADPH --> decreased glutathione --> increased RBC susceptibility to oxidant stress (sulfa drugs, antimalrials, infections, fava beans)
55
G6PD Deficiency Findings?
- Back pain, hemoglobinuria
| - Heinz bodies, bite cells
56
Pyruvate Kinase deficiency defect?
AR
| Defect in pyruvate kinase --> decreased ATP --> rigid RBCs --> extravascular hemolysis
57
HbC Disease mutation
- Glutamic acid --> lysine in Beta-globulin
| - Extravascular hemolysis
58
HbC blood smear?
Hemoglobin crystals inside RBCs
| Target cells
59
Paroxysmal nocturnal hemoglobinuria defect?
Impaired synthesis of GPI anchor for decay-accelerating-factor that protects RBC membrane from complement --> increased complement-mediated intravascular RBC lysis
- Acquired in hematopoietic stem cell
60
PNHb triad?
- Coombs negative hemolytic anemia
- Pancytopenia
- Venous thrombosis
61
Labs in PNHb?
CD55/59 negative RBCs
62
Treatment of PNHb?
Eculizumab (terminal complement inhibitor)
63
Sickle Cell Anemia Defect
Point mutation - glutamic acid --> valine (neutral) --> extravascular and intravascular hemolysis
64
Complications in sickle cell
- Crew cut on skull X-ray
- Aplastic crisis (B19)
- Autosplenectomy --> increased risk of infection by encapsulated organisms (S. pneumo, H. flu)
- Splenic infarct/sequestration crisis
- Salmonella osteomyelitis
- Painful crises (dactylitis, priapism, acute chest syndrome, avascular necrosis, stroke)
- Renal papillary necrosis and microhematuria
65
Sickle cells CoD?
- Kids: encapsulated respiratory infection
| - Adults: acute chest syndrome
66
Sickle cell rx?
Hydroxyurea (increases HbF), hydration
67
Warm AI Hemolytic Anemia
IgG
- Chronic
- SLE, CLL, certain drugs (alpha-methyldopa, penicilin)
68
Cold AI Hemolytic Anemia
IgM and complement
- Acute
- Triggered by cold
- Seen in CLL, mycoplasma pneumonia, mono
69
AI Hemolytic Anemia lab?
+ Coombs
70
Microangiopathic Anemia
- Obstructed/narrowed vessel lumina
- DIC, TTP/HUS, SLE, malignant HTN
- SCHISTOCYTES
71
Describe Parvovirus B19
SS nonenveloped DNA
| linear and small
72
Acute Intermittent Porphyria E?
Porphobilinogen Deaminase
| - Increased porphobilinogen, S-ALA, coporphobilinogen in urine
73
Presentation of acute intermittent porphyria?
- Painful abdomen
- Port wine colored urine
- Polyneuropathy
- Psych disturbances
- Precipitated by drugs, alcohol, starvation
74
Rx for acute intermittent porphyria?
Glucose and heme --> inhibits ALA-synthase
75
Porphyria cutanea tarda E?
Uroporphyrinogen decarboxylase
| - Urophoryrin elevated in urine (tea-colored urine)
76
Porphyria cutanea tarda presentation?
Blistering cutaneous photosensitivity
77
Labs in Hemophilia?
Increased PTT
78
Treatment for hemophilia?
Desmopressin (vWF and factor VII)
- Factor VIII concentrate (A)
- Factor IX concentrate (B)
- Factor XI concentrate (C)
79
Vitamin K deficiency Labs?
Increased PT and PTT
80
Difference between cogulation factor inhibitor or hemophilia?
PTT does NOT correct upon mixing normal plasma with patient plasma due to inhibitor (vs. hemophilia A)
81
Liver failure's effect on hemotology?
- Decreased production of coag factors
- Decreased activation of Vit K
- Followed using PT
82
Bernard-Soulier Syndrome
| - QUALITATIVE Platelet Prob
- Decreased GpIb --> defect in platelet-to-vWF adhesion
- Large platelets ("big suckers")
- Increased BT
83
Glanzmann Thromasthenia
| - QUALITATIVE Platelet Prob
- Decreased GpIIb/IIIa --> defect in platelet-to-platelet aggregation
- Increased BT
84
Hemolytic Uremic Syndrome Labs
| - QUANTITATIVE platelet prob (decreased PC and BT)
- Thrombocytopenia, microangiopathic hemolytic anemia, acute renal failure
- KIDS w/ DIARRHEA (STEC O157:H7)
- Rx: plasmapharesis
85
Immune Thrombocytopenia
| - QUANTITATIVE platelet prob (decreased PC and BT)
Anti-GpIIb/IIIa Ab --> splenic mac consumption of platelet-Ab complex
- Viral illness
- Increased megakaryocytes
- Rx: steroids, IVIG, splenectomy
86
Thrombotic Thrombocytopenic Purpura
| - QUANTITATIVE platelet prob (decreased PC and BT)
- Inhibition/deficiency of ADAMTS 13 = vWF metalloprotease --> decreased degradation of vWF --> large vWF multimers --> increased platelet adhesion --> increased platelet aggregation and thrombosis
87
Labs on TTP?
Schistocytes, increased LDH
88
Sx of TTP?
Pentad: neuro sx + renal sx + fever + thrombocytopenia + microangiopathic hemolytic anemia (schistocytes)
89
von Willebrand Disease Labs
- Increased BT (decreased platelet-to-vWF adhesion)
- Increased PTT (intrinsic, vWF carries/protects factor VIII)
- Abnormal ristocetin test (no platelet aggregation)
90
vWF Disease Genetics
AD
91
vWF Disease Rx
Desmopressin (releases vWF stored in endothelium [WP bodies])
92
DIC Labs
- Decreased platelet count
- Increased BT
- Increased PT
- Increased PTT
- Increased D-dimer (increased fibrin degradation products)
- Schistocytes
- Decreased fibrinogen
- Decreased factors V and VIII
93
DIC Pathogenesis
Widespread activation of clotting --> deficiency of clotting factors --> bleeding state
94
Antithrombin Deficiency Labs
- Normal PT and PTT
- Diminishes increasing PTT following heparin administration
- Also acquired through nephrotic syndrome
95
Factor V Leiden Defect
Mutant factor V (G--> A DNA point mutation near cleavage site) --> resistant to degradation by protein C
- Most common cause of hypercoagulability in Caucasians
- Normal PT, unchanged when Protein C is added
96
Protein C/S Deficnecy
- Decreased ability to inactivate Va and VIIIa --> increased risk of THROMBOTIC SKIN NECROSIS WITH HEMORRHAGE AFTER WARFARIN ADMIN
97
Prothrombin Gene Mutation
Mutation in 3' untranslated region --> increased production of prothrombin --> increased plasma levels and venous clots
