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MCC > Quiz 1 > Flashcards

Quiz 1 Flashcards

1
Q

Define anemia:

A

A decrease in the body’s ability to carry oxygen

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2
Q

What are some symptoms an anemic patient might notice?

A

Symptoms related to oxygen carrying capacity; like shortness of breath, palpitations and fatigue

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3
Q

About how long will a RBC remain in circulation? Where does it go to be destroyed?

A

3 months; the spleen

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4
Q

Hgb levels in an adult male below what level may be indicative of anemia?

A

13.5 g/dL

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5
Q

Hgb levels in an adult female below what level may be indicative of anemia?

A

12.0 g/dL

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6
Q

A nutritional deficiency may be indicated by what finding on a CBC?

A

A high RDW

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7
Q

A B12 or folate deficiency may be indicated by a CBC finding of an MCV above what level?

A

110

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8
Q

A CBC finding of an MCV below 70 may suggest what condition?

A

Thalassemia

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9
Q

What product is made in the first step in heme synthesis?

A

Delta- aminolevulinic acid (delta-ALA)

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10
Q

What enzyme is responsible for creating CO?

A

Heme oxygenase

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11
Q

What is the main goal of secondary hemostasis?

A

Make fibrin

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12
Q

What is the most important ECM component for platelet adhesion?

A

Collagen

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13
Q

What effect do ADP and TxA2 have after binding platelet surface receptors?

A

Promotion of granule release from platelets

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14
Q

What is the goal of primary hemostasis?

A

Formation of a platelet plug

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15
Q

What is a factor inhibitor (in context of a mixing study)?

A

An antibody directed against a clotting factor

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16
Q

Coagulation: Short & Lucky

A

Extrinsic pathway: 7 activates X

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17
Q

Coagulation: TENET

A

Intrinsic pathway: Twelve -> Eleven -> Nine -> Eight -> Ten

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18
Q

What cofactor is used by factor X in the coagulation cascade?

A

Factor V

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19
Q

What is the primary purpose of thrombin?

A

To convert fibrinogen to fibrin

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20
Q

Approximately how small of a deletion can be detected by FISH?

A

1Mb

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21
Q

aCGH or array CGH can provide how small of a resolution for genetic testing?

A

50-100 kb, sometimes less

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22
Q

What does the acronym SpPin stand for?

A

Specificity in a Positive test result help to rule IN a test

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23
Q

What does the acronym SnNout stand for?

A

Sensitivity in a Negative test result helps to rule OUT a test

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24
Q

delta-ALA synthase synthesizes delta-ALA from what two substrates?

A

succinyl-CoA and glycine

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25
Q

Why can X-linked sideroblastic anemia often be cured by high doses of vitamin B6?

A

High levels of vitamin B6 encourage high levels of pyridoxal phosphate, which can stabilize the active site of delta-ALA synthase

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26
Q

What is the name of the enzyme that catalyzes the last step in heme synthesis?

A

ferrochelatase

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27
Q

If a 1 day old neonate is found to have a fever of 38.5 C, they are at risk for hypoglycemia. Why?

A

On average, humans can experience a 12% increase in metabolic rate per increase of 1C, placing neonates especially at higher risk for hypoglycemia

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28
Q

Where do enzymes bind substrates?

A

the active site

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29
Q

Of Vmax Km and kcat, which vary with enzyme concentration?

A

Vmax only

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30
Q

What are the two common mechanisms for enzyme regulation?

A

post-translational modification and binding of activators/inhibitors

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31
Q

What are the most common primary causes of hypercoagulability?

A

Favtor V Leiden, Prothrombin mutations, or increased levels of clotting factors

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32
Q

What are the components of the Virchow triad?

A

Endothelial injury, abnormal blood flow, and hypercoagulability

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33
Q

How do you calculate the likelihood ratio +?

A

Sensitivity / 1- specificity

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34
Q

How do you calculate the likelihood ratio -?

A

Specificity / 1 - sensitivity

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35
Q

Why is double-stranded DNA more soluble than single stranded DNA?

A

The hydrophobic bases are paired and not as exposed to a hydrophillic environment

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36
Q

How can PCR help detect translocations of a DNA sequence?

A

PCR will only give product if the left and right primer are on the same chromsome; thus two primers on different chromsomes will only produce product if a translocation occurs

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37
Q

What are the four most common microcytic anemias?

A

iron deficiency anemia (IDA), anemia of chronic disease (ACD), thalassemias, and sideroblastic anemia

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38
Q

What is the expected MCV for a microcytic anemia?

A

less than 80

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39
Q

What chief issue underlies a sideroblastic anemia?

A

Deficiency in protoporphyrin

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40
Q

What is the most common nutritional deficiency in the world?

A

iron deficiency

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41
Q

Where does absorption of iron occur?

A

the duodenum

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42
Q

What transporter do enterocytes use to move absorbed iron into the blood?

A

ferroportin

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43
Q

Where does transferrin principally transport iron?

A

the liver as well as bone marrow macrophages

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44
Q

What 4 lab tests provide the best measurements of iron status?

A

serum iron, serum ferritin, TIBC, and % saturation

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45
Q

What is a normal % saturation level for transferrin?

A

about 33%

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46
Q

Rank ferric iron (Fe3+), ferrous iron (Fe2+) and heme iron from most to least bioavailable

A

Heme iron > ferrous iron > ferric iron

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47
Q

When ferritin in the body decreases, what will increase to compensate?

A

TIBC (transferrin)

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48
Q

Is the very early stage of IDA normocytic or microcytic?

A

Normocytic

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49
Q

What are three clinical features of IDA?

A

Anemia, koilonychia, and pica

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50
Q

What condition is indicated by the following lab findings?

A

Iron deficiency anemia

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51
Q

What is FEP?

A

Free erythrocyte protoporphyrin

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52
Q

Why would FEP be elevated in IDA?

A

Inability to produce sufficient heme groups results in an excess of protoporphyrin rings floating freely

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53
Q

How is IDA treated?

A

Treating the cause of the iron deficiency (hookworm, cancer, etc) or supplemental iron (ferrous sulfate)

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54
Q

What is Plummer-Vinson syndrome?

A

IDA additionally associated with esophageal web and atrophic glossitis; pt presents with anemia, dysphagia and a beefy-red tongue

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55
Q

What condition is described by chronic inflammation causing Hepcidin to sequester iron in storage sites, limiting iron transfer from macrophages to erythroid precursors?

A

Anemia of chronic disease

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56
Q

Why is Hepcidin upregulated in ACD?

A

The body responds to chronic inflammation by hiding the iron from perceived pathogen invasion

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57
Q

What condition would be associated with the following lab findings?

A

Anemia of chronic disease

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58
Q

How would ACD be treated?

A

Treat the underlying cause of disease, occasionally EPO treatment can be helpful (like in cancer patients)

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59
Q

Defects in production of heme (Fe or protoporphyrin) will lead to what type of anemia?

A

microcytic

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60
Q

What enzyme catalyzes the first step of heme synthesis?

A

ALA synthase

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61
Q

What is the substrate and product of the reaction with ALA synthase?

A

succinyl CoA; ALA

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62
Q

What cofactor is especially necessary for ALA synthase function?

A

vitamin B6

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63
Q

What enzyme is responsible for catalyzing the reaction between protopoyrphyrin and Fe?

A

ferrochelatase

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64
Q

Where does the final step of heme synthesis occur in the cell?

A

the mitochondria

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65
Q

How does protoporphyrin deficiency lead to ringed sideroblasts?

A

Iron is brought into the mitochondria, and deficient protoporphyrin leads to trapped excess iron, which accumlates in the mitochondria (which surround the nucleus) leading to a ring structure

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66
Q

What is the most common form of congenital sideroblastic anemia?

A

A congenital defect in ALA synthase

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67
Q

What are the most common causes of acquired sideroblastic anemia?

A

alcoholism, lead poisoning, and vitamin B6 deficiency

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68
Q

What condition would be associated with the following lab findings?

A

Sideroblastic anemia

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69
Q

Why is ferritin found to be high in sideroblastic anemia?

A

Iron overloaded cells will lyse, and macrophages will eat the excess iron, and store it as ferritin; these findings are SIMILAR in hemochromatosis

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70
Q

What condition would be associated with the following lab findings?

A

Thalassemia (need more information to specify which)

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71
Q

What specific type of disease are thalassemia carriers protected against?

A

Plasmodium falciparum malaria

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72
Q

Which subunits comprise fetal hemoglobin (HbF)?

A
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73
Q

Which subunits comprise HbA?

A
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74
Q

Which subunits comprise HbA2?

A
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75
Q

What are the three normal types of hemoglobin?

A

HbF, HbA, HbA2

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76
Q

How many alleles of alpha hemoglobin exist in a normal genome? Where are they located?

A

4 (two per chromsome); chromsome 16

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77
Q

What is the most common genetic mutation causing alpha-thalassemia?

A

gene deletion

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78
Q

What is a cis deletion in alpha-thalassemia?

A

When 2 copies of the alpha HgB allele that are knocked out are on the same chromosome

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79
Q

What is a trans deletion in alpha-thalassemia?

A

When 2 copies of the alpha HgB allele that are knocked out are on opposite chromosomes

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80
Q

In what geographic population are cis deletions in alpha-thalassemia seen?

A

Asians

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81
Q

In what geographic population are trans deletions in alpha-thalassemia seen?

A

Africa

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82
Q

Is the cis or trans deletion in alpha thalassemia associated with a more severe risk of anemia in offspring? why?

A

Cis deletion; because both deletions are on one chromsome, and that chromsome could pass both deletions on to offspring

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83
Q

What characteristics would be seen in alpha thalassemia with a 3 gene deletion?

A
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84
Q

What comprises HbH? What is the pathology?

A

a tetramer of beta-chain HgB; defective alpha chains/lack of alpha chains leads to tetramerization of beta-chain dimers

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85
Q

What occurs in a 4 gene deletion of the alpha thalassemia alleles?

A
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86
Q

What is Hb Barts?

A

a tetramer of gamma HgB chains

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87
Q

How many beta hemoblogin alleles exist in the normal human genome? Where are they located?

A

two (one on each chromsome); chromsome 11

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88
Q

What are characteristics of beta thalassemia minor (B/B+)?

A
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89
Q

What are normal hemoglobin concentrations in an adult?

A

HbA- 96.5%
HbA2- 2.5%
HbF- 1%

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90
Q

What electrophoresis findings would be significant in beta-thalassemia minor?

A

HbA2 increased to about 5%

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91
Q

What are common characteristics of beta-thalassemia major (Bo/Bo)?

A
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92
Q

Lack of beta HgB will lead to a tetramer of what type of HgB?

A

an alpha tetramer

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93
Q

What are two significant effects of alpha HgB tetramerization?

A

ineffective erythropoiesis and and extravascular hemolysis (destruction by spleen)

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94
Q

What is Massive erythroid hyperplasia?

A

expansion of hematopoeisis into marrow of skull and facial bones (extramedullary hematopoeisis) clinical appearance is nicknamed “chipmonk face”

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95
Q

What is parvovirus B19?

A

a virus that infects and shuts down erythroid precursors (usually lasts 1-2 weeks)

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96
Q

How is parvovirus B19 different with thalassemic patients (especially beta thalassemia major)?

A

It may cause an aplastic crisis (there is extra dependence on RBC product)

97
Q

How is thalassemia treated?

A

Chronic transfusions are often necessary (which has a secondary risk of hemochromatosis)

98
Q

In addition to the blood smear findings for beta thalassemia minor, what else is notable for a blood smear from a beta thalassemia major patient?

A

nucleated RBCs

99
Q

On average how long does it take to replete human iron stores?

A

6-12 months

100
Q

How do cells that need iron get it into the cytosol?

A

They upregulate transferrin receptors for transferrin to bind and pull iron into the cell

101
Q

What is aconitase?

A

A protein that responds to Fe to regulate mRNAs with an iron regulatory element (IRE)

102
Q

What affinity does aconitase have in a low iron environment?

A
103
Q

What role does aconitase have on ferritin production in a low iron environment?

A
104
Q

What affinity does aconitase have in a high iron environment?

A
105
Q

What role does aconitase have on ferritin production in a high iron environment?

A
106
Q

What role does aconitase have on transferrin receptor production in a low iron environment?

A
107
Q

What role does aconitase have on transferrin receptor production in a high iron environment?

A
108
Q

Mutations in what gene make up the majority of hereditary hemochromatosis cases?

A

HFE

109
Q

By what principal cytokine does inflammation lead to an upregulation of hepcidin?

A

Interleukin 6 (IL-6)

110
Q

What effect would hypoxia or erythropoeisis have on hepcidin levels?

A

They would downregulate hepcidin production

111
Q

How does methotrexate affect folate useage by the body?

A
112
Q

What is leucovorin?

A

An exogenous form of activated folate that can be administered as a drug

113
Q

Which common cause of vitamin B12 deficiency is responsible for pernicious anemia?

A

Autoimmune destruction of gastric parietal cells

114
Q

Where in the body is vitamin b12 absorbed? What must it be bound to?

A

the ileum; intrinsic factor

115
Q

What effect does kidney disease have on EPO production?

A

Reduced production of EPO

116
Q

Once RBC precursors are bound by EPO, what transcription factor is recruited by the JAKs (kinases)?

A

STAT5

117
Q

What lab results would be consistant with hemolysis?

A
118
Q

What are Heinz bodies as found in G6PD?

A

precipitated denatured globin chains

119
Q

What effect do prolyl and asparagine hydroxylases have on HIF-alpha?

A

They trigger its degradation

120
Q

In hypoxic conditions, what is the action of HIF-alpha?

A

HIF-alpha is not degraded, enters the nucleus, finds HIF-beta and binds HRE, upregulating EPO production

121
Q

What effect will a substrate analog (competitive inhibitor) have on an enzyme’s Vmax and Km?

A

Vmax- no effect
Km- increase

122
Q

What are the best dietary sources for folate and vitamin B12?

A

folate: leafy greens
Vit B12: animal proteins

123
Q

What four lab tests can best assist in diagnosing a folate or vitamin B12 deficiency?

A

Folate, B12, MMA, and homocysteine

124
Q

How large is the human body’s liver stores of vitamin B12?

A

3-5 years supply

125
Q

In order to participate in DNA synthesis methyl-THF passes its methyl group to what molecule?

A

Cobalamin (B12)

126
Q

After being methylated by THF, where does methyl-cobalamin pass the methyl group?

A

to homocysteine (creating methionine)

127
Q

How does 5-FU inhibit DNA synthesis?

A

By binding to 5,10-methylene-THF and permanently inactivating Thymidylate synthase

128
Q

How does Vitamin B12 affect methyl-malonic acid?

A

Vitamin B12 catalyzes a reaction converting methyl-malonyl CoA to succinyl CoA

129
Q

What information can be gathered by high serum levels of MMA?

A

Vitamin B12 deficiency

130
Q

What problems are caused by a build up of methyl-malonic acid?

A

Permanent neurological defects

131
Q

What are common causes of B12 and folate deficiencies?

A

folate: diet
vitamin B12: loss of IF or resection of bowel involving ileum

132
Q

How is heme synthesis primarily regulated?

A

negative feedback

133
Q

What is the broad name of inherited or aquired disorders affecting heme biosynthesis?

A

Porphyrias

134
Q

In the heme biosynthetic pathway, which two enzymes are vulnerable to inhibition by lead poisoning?

A

ALA dehydratase and ferrochelatase

135
Q

How does increased acidity (decrease in pH) and increased levels of 2,3-BPG affect HgB affinity for oxygen?

A

Oxygen affinity decreases (favoring release of O2), causing a right shift in the oxygen saturation curve

136
Q

How do increased CO levels affect HgB affinity for O2?

A

They increase affinity, with a left shift curve (note that HgB is permanently bound to CO and oxygen carrying capacity rapidly decreases as levels of CO increase)

137
Q

What is the meaning of the aPTT in coagulation testing?

A

Time to fibrin clot involving the intrinsic coagulation pathway

138
Q

What is the meaning of the PT in coagulation testing?

A

Time to fibrin clot involving the extrinsic coagulation pathway

139
Q

Is plasma or serum used for the aPTT/PT testing?

A

plasma

140
Q

What is indicated by a CORRECTS result from a mixing study?

A

A clotting factor deficiency

141
Q

What is indicated by a FAILS TO CORRECT result from a mixing study?

A

Inhibition of a clotting factor(s)

142
Q

What are three contact factors than can cause aPTT prolongation without bleeding diathesis?

A

Factor VII, prekallikrein, and HMWK

143
Q

What PT/aPTT would you expect with a Hemophilia A/B diagnosis?

A

Prolonged aPTT
normal PT and platelets
(Factor VIII/IX impaired activity)

144
Q

Which coagulation factor is NOT made by hepatocytes?

A

Factor VIII

145
Q

What is the aPTT/PT status for von Willebrand disease?

A

Normal (usually)

146
Q

What are chief differential dx for elevated PT alone?

A

F VII deficiency/inhibitor, therapeutic levels of warfarin, vitamin K deficiency

147
Q

What are chief differential dx for elevated PT/aPTT together?

A

Warfarin/vitamin K (high levels), common pathway inhibitor/deficiency

148
Q

What should be on the differential dx for elevated PT/aPTT with reduced platelets?

A

DIC, severe liver disease

149
Q

Which coagulation factors are vitamin K dependent?

A

Factors II, VII, IX, and X

150
Q

How does heparin act as an anticoagulant?

A

heparin potentiates antithrombin

151
Q

What active enzyme dissolves a fibrin clot?

A

plasmin

152
Q

What factors are inactivated by antithrombin?

A
153
Q

What factors are inactivated by proteins C and S?

A
154
Q

What are the three risk factors for thrombosis of Virchow’s Triad?

A

endothelial injury
abnormal blood flow
hypercoagulability

155
Q

What is the pathophysiology of Factor V Leiden?

A

An autosomal dominant point mutation in factor V makes it resistant to cleavage by protein C

156
Q

What is the essence of disseminated intravascular coagulation?

A

a massive systemic intravascular activation of coagulation

157
Q

What is meant by the fact that DIC is not a primary disease?

A

It is associated with many diseases that cause release of tissue factor or endothelial injury

158
Q

What symptoms are significant in a dx of DIC?

A

elevated D dimer, decreased fibrinogen. prolonged PT/aPTT, and decreased platelets

159
Q

What is the meaning of the pneumonic “CADET, face right” pertaining to the HgB saturation curve?

A

CO2, Altitude, 2,3-DPG (or BPG), Exercise, Temperature all involve right shift with increases

160
Q

Acute intermittent porphyria may present with what unique symptoms?

A

Diffuse abdominal pain and dark colored urine, without any focal findings

161
Q

What is the main pathology of Bernard-Soulier syndrome?

A

A deficiency in GP Ib in the primary hemostasis pathway that prevents effective platelet plug formation

162
Q

Is bleeding time more related to primary or secondary hemostasis?

A

primary hemostasis

163
Q

What characterizes an Acute Hemolytic Transfusion Reaction? (mechanism, timing, other facts)

A
164
Q

What characterizes an Allergic Transfusion Reaction? (mechanism, timing, other facts)

A
165
Q

What characterizes a Delayed Hemolytic Transfusion Reaction? (mechanism, timing, other facts)

A
166
Q

What characterizes a Febrile Non-Hemolytic Transfusion Reaction? (mechanism, timing, other facts)

A
167
Q

What characterizes a Septic Transfusion Reaction? (mechanism, timing, other facts)

A
168
Q

What characterizes a Transfusion Associated Circulatory Overload (TACO)? (mechanism, timing, other facts)

A
169
Q

What characterizes a Transfusion-Related Acute Lung Injury (TRALI)? (mechanism, timing, other facts)

A
170
Q

Does Rh factor matter in plasma donations?

A

No

171
Q

How are plasma donations different from blood donations?

A

Donating plasma results in opposite H protein protocols; i.e. type B+ can only RECEIVE blood from B or AB groups

172
Q

What is the incidence of a disease?

A

The # of new cases in a time period

173
Q

What is the prevalence of a disease?

A

The # of cases at any point in time

174
Q

What is the function of an independent T test?

A

To compare the means of two numerical variables

175
Q

What is the function of a paired T test?

A

to compare the mean of the same group at different points in time

176
Q

What is the function of a chi squared test?

A

To compare two categorical variables (i.e. survey responses)

177
Q

What pathology might these lab results indicate?

A
178
Q

What is the first step when hemolytic anemia is suspected?

A

A DAT

179
Q

Which proteins are most commonly affected in Hereditary spherocytosis?

A

Spectrin, Ankyrin, Band3

180
Q

What disease is indicated by these findings?

A

Hereditary Spherocytosis

181
Q

How can an osmotic fragility test help diagnose hereditary spherocytosis?

A

The test places cells in a hypotonic solution, where extra membrane is required to absorb water. Spherocytes lack this and will lyse

182
Q

What is the preferred treatment for hereditary spherocytosis?

A

splenectomy

183
Q

What are Howell-Jolly bodies?

A

extra fragments of RBC nuclear materieal normally removed by the spleen

184
Q

What is the genetic mutation that causes sickle cell anemia?

A

An autosomal mutation where a glutamic acid is replaced with valine

185
Q

How is sickle cell disease characterized?

A

Two abnormal beta genes resulting in > 90% HbS in RBCs

186
Q

When RBCs are deoxygenated, or in the T state, what takes place with a person with sickle cell disease?

A

The HbS molecules polymerize into a rigid sickle-shape

187
Q

What 3 main physiological environments can increase sickling risk in SCD?

A

Hypoxemia
Dehydration
Acidosis

188
Q

What treatment helps to increase HbF levels in patients with SCD?

A

hydroxyurea

189
Q

What is dactylitis?

A

Swollen hands and feet due to vaso-occlusive infarcts of tissue (common sign in infants)

190
Q

What are three notable consequences of autospenectomy/splenectomy?

A

-Increased risk of infection with encapsulated organisms
-Increased risk of Salmonella paratyphi osteomyelitis
-Howell-Jolly bodies

191
Q

What is acute chest syndrome?

A

Vaso-occlusion in pulmonary microcirculation; presents with chest pain, SOB, and often precipitated by pneumonia Most common cause of SCD death in adults

192
Q

What is the difference between sickle cell disease and sickle cell trait?

A

Sickle cell trait involves only one mutated gene; they will have less than 50% HbS (sickling only occurs at > 50%)

193
Q

What is the major exception where someone with sickle cell trait may experience sickling?

A

The renal medulla, where extreme hypoxia and hypertonicity cause sickling, which can lead to microinfarctions

194
Q

What is the purpsoe of metabisulfite?

A

It will cause cells with any amount of HbS to sickle

195
Q

Results from this gel electrophoresis would be indicative of what pathology?

A

Sickle Cell Disease

196
Q

Results from this gel electrophoresis would be indicative of what pathology?

A

Sickle Cell Trait

197
Q

What is the condition Hemoglobin C?

A

AR mutation in beta chain converting glutamic acid to lysine (SCD is valine)

198
Q

What is the object highlighted in the picture?

A

A hemoglobin C crystal

199
Q

What is Paroxysmal Nocturnal Hemoglobinuria?

A

An aquired defect in myeloid stem cells resulting in absent GPI, which holds DAF and MIRL to the RBC membrane (which protect from complement) *platelets and leukocytes also at risk

200
Q

Why is PNH exacerbated/triggered at night?

A

Shallow breathing at night -> mild respiratory acidosis 0> activates complement which lyses RBCs, WBCs, and platelets

201
Q

What are major signs of intravascular hemolysis?

A

hemobloginemia, hemoblinuria

202
Q

What are two tests that can be used to diagnose PNH?

A

acidified serum test, or flow cytometry to detect lack of CD55 (DAF)

203
Q

What is the main danger of PNH?

A

Thrombosis, due to destroyed platelets releasing cytoplasmic contents to induce thrombotic events

204
Q

What is G6PD deficiency?

A

Deficiency of G6PD -> less NADPH to regenerate Glutathione -> more oxidative stress on RBCs

205
Q

What are the two clinical variants of G6PD?

A

African variant (mild)
Mediterranean variant (severe)

206
Q

What sources of oxidative stress may induce intravasuclar hemolysis in G6PD deficient patients?

A

Infections
Drugs (primaquine, sulfa drugs, dapsone)
Fava beans

207
Q

How do you screen for G6PD?

A

a Heinz preparation (used to see Heinz bodies); afterwards an enzyme study can confirm deficency (can’t be done til after hemolytic episode)

208
Q

What are the two types of autommune hemolytic anemia?

A

Warm AIHA
Cold AIHA

209
Q

What characterizes Warm AIHA?

A

IgG binds RBCs in warm central body, and part of membrane is consumed by splenic macrophages, this leads to less membrane > spherocytes

210
Q

What characterizes Cold AIHA?

A

RBCs are bound in colder temperatures (fingers/toes) are complement is fixed, and results in hemolysis

211
Q

What is the treatment for AIHA?

A

cessation of offending drug, steroids, IVIG (distracts spleen), spenectomy (last resort)

212
Q

Patients with mycoplasma pneumoniae or mononucleosis are at risk for developing what type of AIHA?

A

Cold AIHA

213
Q

How does the DAT (Coombs) determine AIHA?

A

An anti-IgG antibody is added to patient RBC, and agglutination will occur if RBCs are coated with IgG (positive test)

214
Q

How is Microgangiopathic hemolytic anemia characterized?

A

A vascular pathology causes RBC destruction as they pass through circulation; this produces schistocytes

215
Q

What are the 3 major conditions that fall under microangiopathic hemolytic anemia?

A

TTP
HUS
DIC

216
Q

How is Thrombotic Thrombocytopenic Purpura characterized?

A

ADAMTS13 levels are greatly decreased (<10%) causing vWF multimers to be undegraded

217
Q

What are major signs or symptoms of TTP?

A

RBC fragments in blood, ADAMTS13 levels <10%, presenting with thrombocytopenia, fever, neuro sx

218
Q

What are major symptoms of HUS?

A

RBC fragments in blood, renal failure, bloody diarrhea

219
Q

What is the name of the highlighted molecule in the picture?

A

a schistocyte

220
Q

What proteins are most involved in Alzheimer’s disease?

A

beta-amyloid and Tau

221
Q

What proteins are most involved in Parkinsons disease?

A

alpha-synuclein

222
Q

T/F: Hemoglobin bound to no oxygen is said to be in the R-state or relaxed conformation

A

False; it is the T-state or tight conformation

223
Q

Does fetal hemoglobin have a low or high affinity for 2,3 DPG (BPG)? Why is this?

A

very low affinity; this encourages materal delivery of oxygen to the fetus

224
Q

What are two similarities between sickle cell disease and amyloid?

A

They are both diseases of protein folding

They are both diseases of specific protein aggregation

225
Q

What are two differences between sickle cell disease and amyloid?

A

HbS tetramer still maintains native structure and alpha-helical fold, while amyloid involves polymerization of beta-sheets.

HbS occurs in hemoglobin, while amyloid can occur in many protein types, mutated or not

226
Q

What is pictured in this histology slide? What stain is being used?

A

A ringed sideroblast (prussian blue stain)

227
Q

What treatment is often viable for x-linked sideroblastic anemia?

A

High-doses of vitamin B6

228
Q

SCD is most often caused by what type of mutation in what gene?

A

a missense mutation (E->V) in the beta-globin gene

229
Q

If hemolytic anemia is suspected, what is the first step to be taken?

A

DAT (Coombs test)

230
Q

In suspected hemolytic anemia with a negative DAT, what is the next step in diagnoses?

A

Blood smear

231
Q

What causes paroxysmal nocturnal hemoglobinuria (PNH)?

A

Mutation in PIGA gene causes faulty synthesis of GPI anchor, in whose absence complement is activated against RBCs

232
Q

What lab indications might be indicative of PNH?

A

Extremely high (1000s) ALT and AST

Lack of CD 55 and CD 59 on RBCs

233
Q

What are the major differences in symptoms between TTP and HUS?

A

TTP: ‘Pentad” Fever, thrombocytopenia, MAHA, neurologic symptoms, renal insufficiency

HUS: preceding bloody diarrhea, renal failure (more prominant than TTP)

234
Q

What are the differences in treatment of HUS and TTP?

A

TTP: excellent response to plasma exchange

HUS: treatment other than plasma exchange usually required

235
Q

Since hemoglobinopathies (like SCD) are difficult to detect with FISH, what other molecular methods can be used to detect deletions or point mutations?

A

HPLC; which can detect globin changes

236
Q

What a major effect of chronic kindey disease on RBC production?

A

CKD can lead to underproduction of EPO

237
Q

Who can a B+ bloodtype patient receive plasma from?

A

B, AB

238
Q

What is the most common transfusion reaction? What is the etiology?

A

Allergic reations; preformed IgE antibodies directed against plasma proteins in donor; severity ranges from hives to anaphylaxis

239
Q

What is the biggest worry in transfusion medicine (TM)? What is the etiology?

A

Hemolytic event; IgM activation of complement against RBC surfaces due to mistyping

MCC (10 decks)

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