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Hematology MLT > Microcytic and Macrocytic Anemias > Flashcards

Microcytic and Macrocytic Anemias Flashcards

1
Q

What amount of ingested iron is absorbed?

A

10%

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2
Q

Iron is stored as ?

A

Ferritin and homosiderin

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3
Q

Absorbed iron is converted from ?

A

Ferric (Fe3+) to Ferrous (Fe2+)

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4
Q

What factors affect iron absorption?

A

GI tract health
Diet (5% daily intake maintains RBCs)
Current iron stores
Erythropoietic need

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5
Q

Identify iron needs in children and adults?

A

Adults 95% iron is recycled for RBC production

Children 70% iron recycled for RBC production

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6
Q

Why are the iron needs of children higher than adulta?

A

Children have a higher iron demands because of growth spurts.

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7
Q

What can cause IDA?

A

Increased iron demans - growth spurts, prenancy, nursing
iron intake - diet / conditions causing iron malabsorbtion
Blood loss - GI bleeding, excessive periods, hemolysis

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8
Q

Unusual symptoms associated with IDA? (3)

A

Pica - eating weird shit
Chelitis - swollen/ swelling around lips
Koileneychea - spooning of nail beds

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9
Q

What is the iron profile in IDA?

A

decreased iron
decreased serum ferritin
decreased iron saturation
TBIC increased (more sites available for binding)

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10
Q

Describe the CBC profile in IDA? (6)

What indices is increased?

A

Decreased RBC count, Hgb, Hct, MCV, MCH, MCHC.

Increased RDW

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11
Q

How many stages are there in IDA? What happens at each stage? At which stage do symptoms start to show?

A 
3
stage 1 - depletion of iron stores 
stage 2 - ineffective erythroporesis
stage 3 - IDA
symptoms appear stage 3
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12
Q

What is the most sensitive indicator of iron stores?

A

Serum Ferritin

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13
Q

Sideroblastic Anemia

A

Iron overload

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14
Q

Describe the pathophysiology of Hereditary Hematochromatosis and what is it responsible for?

A

Faulty mechanism cause iron overload.

Iron loading starts at young age.

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15
Q

What is the gene affected in Hereditary Hematochromatosis? How is this disease inherited?

A

Abnormal HFE gene, responsible for regulating iron storage and absorption.
Autosomal recessive carried on chromosome 6; linked to HLA-A3
inherited homozygously / herterozygously
Homozygotes more prone to iron overload only 10% in hetero

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16
Q

What are some symptoms of Hereditary Hematochromatosis? (6)

A 
Cirrohsis
Hyperpigmentation
Impotence
hair loss
Tender swollen joints
cardiac arrythmias
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17
Q

Describe the iron profile of patients with Hereditary Hematochromatosis? (5)

A 
Increased serum iron 
increased ferritin
increased tranferrin saturation
TIBC normal range
Transferrin normal range
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18
Q

How is Hereditary Hematochromatosis treated?

A

Therapeutic phlebotomy

Desferyl (defroxamine) - iron chelating (binding) agent

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19
Q

What are the Thalassemia syndromes?

A

Globin chain disorder due to lack of alpha or beta globin chain systhesis.

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20
Q

How many alpha thalassemias are there?

A

4 - related to the number of genes deleted.

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21
Q

What is the most severe alpha thalassemia?

A

Bart’s Hydrops Fetalis

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22
Q

Describe the pathology, gene deletions and symptoms in Bart’s?

A 
No alpha chain synthesis
only Hgb Bart's formed ( 4 gamma chains)
has a very high affinity for oxygen
incompatible with life ; severe anemia
still birth/ spontaneous abortion
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23
Q

Describe the pathology, gene deletions and symptoms in hemoglobin H disease?

A 
3 gene deletion; 1 functioning alpha gene
Hgb H  (5 - 40%) formed and little Hgb A 
Hgb H inclusions: golf ball pitted
Symptoms: anemia, splenolmegaly and bone changes
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24
Q

Describe the pathology, gene deletions and symptoms in Alpha thalassemia trait?

A

2 gene deletion ( 4 functional chains)
Some Hgb Bart’s formed
mild anemia
many microcytic and hypochomic cells

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25
Describe the pathology, gene deletions and symptoms in Silent carrier of alpha THA?
1 gene deletion (3 functional genes) Hematologically normal slightly microcytic peripheral smear will have some elliptocytes and target cells
26
Cooleys / Mediterranean Anemia
Beta THA Major
27
Describe the cause of Beta THA major?
little / no beta chain synthesis
28
What hemoglobin is produced in beta THA major?
Hgb F
29
How is beta THA major treated? (4)
Transfusion iron chelation bone marrow transplant stem cell transplant
30
Symptoms of Beta THA Major? (3)
Facial changes, bossing/ protrusion of skull fail to thrive jaundice
31
What Hgb is present in elevated amounts in beta THA minor?
Hgb A2
32
What is the genetic defect in beta THA minor?
One abnormal beta gene
33
What are the known clinical manifestation of beta THA intermedia? (3)
develops later in life minor bone changes larger spleens
34
What differentiates Alpha THA from IDA?
MCV much lower than IDA | RDW more severe.
35
What differentiates Beta THA minor from IDA?
MCV much lower | RBC count is elevated
36
Except for low MCV, what is a diagnostic clue for Silent Alpha THA?
elliptocytes on smear
37
What are diagnostic clues for beta THA major?
High NRBCs | target cells, fragments on smear
38
Describe what a megaloblastic anemia and what a macrocyctic anemia?
meglaoblastic anemia is the result of a B12 or folic acid deficiency and MCV exceeds 110 fL
39
Explain the role of B12 and Folic acid in DNA synthesis?
DNA sythesis depends on TTP (thymidine triphosphate) TTP needs methyl group from MTH (methyl tetrahydrofolate) or folic acid. B12 is the cofactor that transfers the methyl group
40
If TTP is not made what is it replaced by and what does this lead to?
DTP, leading to nuclear fragmentation, destruction and impaired cell division.
41
What are the characteristics of megaloblasts compared to normoblasts?
RBC precursors larger Nuclear structure less condensed (normoblast c: n ratio decreases, nucleus more compact) Cytoplasm is basophilic and bluer chromatin open waved (condensed in normoblast) ***Asychronous maturation between nucleus and cytoplasm)
42
Describe ineffective erythroporesis related to megaloblastic anemias? Ratio prcursors RETIC count Bilirubin and LDH
M:E ratio 1:1 or 1:3 Megaloblastic precursors hemolyse before maturation complete in bone marrow. Reticulocytopenia (low RETIC count) Bilirubin and LDH elevated
43
The peripheral smear in ineffective erythroporesis related to megaloblastic anemias?
Peripheral smear lacks NRBCs
44
Describe WBC changes in peripheral smear in MA?
Hypersegmented neutrophils (>5 lobes)
45
Describe the CBC in MA? (4)
Pancytopenia (low WBC count) Low RBC count Low PLT count MCV initially high
46
RBC inclusions seen in MA?
BS | HJB (more fragmented and larger)
47
What happens to the RDW in MA?
``` RDW increased SCHISTOS TDS TC MACRO MACRO-OVALO ```
48
Where is B12 absorbed?
Illeum
49
What is needed for B12 absorbtion?
Intrinsic Factor (IF)
50
Where is B12 stored?
Liver; takes years to deplete
51
What is the MDA for folic acid?
200 micrograms
52
What is the MDA for B12?
20 micrograms
53
Where is folic acid absorbed?
Small inntestine
54
Folic acis is stored long term or short term?
short term; takes months to deplete
55
Describe B12 transport to bone marrow into red cells?
Ingested and separated by saliva enzymes In stomach combines with IF B12-IF complex transported to ileum B12 absorbed and IF degraded B12 transported to plasma; complexes with transcobalamin II (TCII) TCII transports B12 to circulation and transfers to liver, bone marrow and other tissues
56
What protein transports B12 into circulation and to liver and bone marrow?
Transcobalamin II
57
How is folic acid transported into tissues?
Absorbed in small intestine reduced to methyl tetrahydrofolate (MTH) by dihydrofolate reductase - moved to tissues when inside - methyl group released to combine with homocystein
58
Symptoms of MA?
Glossitis Neurologic Mania (personality changes) Demyelination of peripheral nerves
59
Dietary B12 deficiency is rare except?
Vegetarians / infants nursed by vegetarian mums who do not supplement diet
60
Causes of B12 deficiency?
Cobalamin/ intestinal malabsorbtion food malabsorbtion by helobacter pylori Blind loop syndrome (basteria take b12) Fish tapeworm - Diphylobothrium latum competes for B12
61
Causes of folic acid deficiency?
``` Pregnancy elderly alcoholics malabsorbtion syndrome - tropical sprue Drug/ chemo drugs affect DNA synth ```
62
What is Pernicious Anemia?
Lack Intrinsic Factor needed for B12 absorption
63
How is B12 deficiency tested for?
Radioimmunoassay
64
What is the test for Folic acid deficiency?
Chemiluminescence - measures folate stored
65
How is B12 deficiency differentiated from Folic acid deficiency in the Lab?
Serum methlymalonic acid (MMA) and homocystein. | Both elevated in B12 deficiency, can detect mild B12 deficiency.
66
How is IF affected in Pernicous anemia?
Can be blocked, neutralized, not secreted: Gastrectomy Atrophic gastritis Antibodies against IF
67
What do IF antibodies do in PA?
Block B12-IF complex preventing absorption in ileum
68
Differentiate anemias that are macrocytic but not megaloblastic?
Megaloblastic Features: Macrocytes are large and oval lack hypochromia - normochromic
69
Non-megaloblastic RBC morphology?
Round hypochromic macrocytes | blue tinged macrocytes seen in neonate response to anemic stress
70
Causes of non-megaloblastic anemia?
Alcoholism Hypothyroidism Liver Disease
71
Hereditary Spherocytosis is common in what group of people?
N. Europe
72
What is the % inheritance of Hereditary Spherocytosis?
75% Auto dominant | 25% Auto recessive
73
What is deficient in Hereditary Spherocytosis?
Membrane proteins Spectrin and Ankyrin on protein band 3 protein band 4.2
74
Where are spherocytes found in Hereditary Spherocytosis?
Peripheral circulation | In spleen only
75
What is wrong with Sperocytes?
Cell membrane can only stretch 3% (normal is 117%) Ion transport both active and passive is disrupted unable to deform in microvasculature
76
Describe osmotic fragility testing?
Cells tested at varying salt concentrations Normal RBCs reach equilibrium Solution become more hypotonic (less salt & more water) ---> water influx some hemolysis.
77
What do normal RBCs lyse at in Osmotic fragility test?
0.85% NaCl
78
What do sperocytes lyse at in osmotic fragility test?
0.65% NaCl
79
What membrane proteins are affected in Hereditary Stomatocytosis?
Spectrin Stomatin Some ankryin
80
What happens to stomatocyte cells?
membrane only expand 3% | Na+ and K+ active transport fucked up
81
What is the inhertitance pattern of Hereditary Stomatocytosis?
Auto dominant, but rare disorder
82
Stomatocytes are also seen in what kind of individuals?
Lacking Rh antigens - Rh Null disease
83
What is the protein deficiency in Hereditary Eliptocytosis? What regions is this associated with?
Spectrin | associated with alpha and beta regions
84
What is the inheritance for Hereditary Eliptocytosis?
Auto. Dominant
85
4 Subtypes of Hereditary Eliptocytosis?
Common Hereditary Sperocytocis (CHE) - Auto Dom Southeast Asian Ovalocytosis (SAO) - Auto Dom Spherotic Hereditary Eliptocytosis (SHE) - Auto Dom Hereditary Pyropoikilcytosis (HP) Auto Recessive
86
Mild CHE
No clinical sysmptoms
87
Severe CHE
seen in infants more often then changes to mild in adults
88
What is a unique feature of RBCs in SAO?
2 bars across RBC centre | Cells spoon shaped
89
What group is affected by SAO?
Melanesia / malasian populationn?
90
SHE affects which group of people
N. Europeans
91
SHE symptoms?
Gall bladder disease and splenomegaly
92
What is a unique feature of HP RBCs?
Red cell budding and red cell crenantion
93
Pyruvate Kinase Deficiency is a disorder of what pathway?
Embden-Myerhof Pathway
94
Pyruvate Kinase Deficiency prevents what leading to what?
Unable to make ATP from ADP for RBC membrane function, which leads to a buildup of 2,3 diphosphoglycerate
95
as well as N. Europeans Pyruvate Kinase Deficiency affects?
Amish population of Miffin county PA
96
What is the most common enzyme deficiency in the world?
G6PD
97
What is G6PD Deficiency's mode of inheritance?
X-linked recessive
98
G6PD is needed for which pathway?
Phosphogluconate pathway
99
What does G6PD do?
Keeps gluthione in a reduced state
100
What does lack of G6PD cause?
Prevents NADH formation, which is needed to reduce gluthione which prevents oxidative stress.
101
What is a unique feature of G6PD deficiency?
Protects against malaria
102
What are the 4 clinical conditions of G6PD deficiency?
Drug induced acute hemolyt[ic anemia Favism Neonatal jaundice Congenital non-spherotic anemia
103
Diagnosis of G6PD deficiency what is important?
timing critical and not done during a hemolytic episode
104
What is the amino acid substitution in Hgb S?
Valine is subbed for glutamic acid at position 6
105
What is the inheretance for Hgb S?
Auto Dom on chromosome 11 | 1 location on each chromosome for normal or abnormal beta chain
106
What are the two types of Sickle Cell?
Reversible (blunt ends) and Irreversible (pointy ends)
107
What happens to RBCs containing Hgb S in areas of low O2?
Rigid
108
What can induce Sickling?
Hypoxia Acidocis Dehydration Exposure to cold
109
Sickle cell life span?
10 - 20 days
110
What are the 4 haplo types of Sickle cell?
Asian, Benin, Bantu, Senegal and carribean
111
What differentiates the 4 sickle cell haplo types?
Different sequence of nucleotides (polymorphisms) on DNA strands, all located in same gene cluster. Amount of Hgb F present
112
How does Hgb F affect sickle cell?
presentation is less severe
113
Clinical considerations of sickle cell?
``` Chronic hemolytic anemia Recurrent painful attacks Bacterial infections Hypercellular bone marrow Cholelithiasis (gallstone formation) ```
114
How does sickly cell affect the spleen?
``` Splenomegaly loses ability to clear abnormalities HJBs evident splenic atrophy splenic sequestration (RBCs trapped in spleen) ```
115
How does sickle cell affect the lungs?
Embolisms (Occlusions) | Pnemonia
116
What is a trademark of sickle cell?
Painful crisis (sickle cell crisis)
117
How can sickle cell affect males?
Priapsm (persistent boner)
118
How does sickle cell affect eyes?
Retinopathy blindness retinal detachment lesions
119
What are treatments for sickle cell?
Prophylactics Transfusions for 3 - 5 weeks until Hgb 9-11 g/dL Hydroxyurea
120
What is the amino acid substitution in Hgb C formation?
Lysine subbed for glutamic acid at 6th position of beta chain
121
What is the inheritance in sickle cell trait?
Hetrozygous - one normal and one abnormal gene
122
What is the inheritance in sickle cell disease?
Homozygous - both genes abnormal
123
The diothnate test is based on what principle?
Hgb S precipitates
124
What is the Hgb Distribution in Sickle cell trait?
Hgb A 60% Hgb S 40% have normal lives but crisis can be triggered
125
What is a unique identifier of Hgb C Disease RBCs?
Crystals (bars of gold)
126
What is the Hgb C ratio?
Hgb A 60% Hgb C 40%
127
What is a unique identifier of Hgb SC Disease?
SC Crystals (Washington monument)
128
What is the hgb distribution in SC Disease?
hgb S 50% and hgb C 50%
129
What hgb results from a Hgb sub of lysine for glutamic acid at the 26th position of the beta globin chain?
Hgb E
130
What is the 2nd most common Hgb worldwide?
Hgb E
131
What is the distribution of Hgb in Hetrozygotes?
70% Hgb A and 30% Hgb E
132
What hgb is a beta chain variant?
Hgb D punjab
133
What hgb is a alpha chain variant?
Hgb G phila
134
What hgb variants have no hematological abnormalities?
Hgb D punjab & Hgb G phila
135
What Hgbs migrate in the same position as Hgb S at alkaline electrophoresis at pH 8.6?
Hgb G phila
136
What Hgbs migrate in the same position as Hgb C at citrate electrophoresis at pH 6.0?
Hgb O arab
137
What are the features of hemoglobin S Beta-THA?
No Hgb A | 2 bands on electrophoresis one at Hgb S and one and Hgb A2
138
What is the principle of the sickledex tube test?
Hgb S is insoluble when combined with a buffer and reducing agent Therefore it precipitates
139
What is the interpretation of the sickledex tube test?
Positive: turbid solution if Hgb S present or any other sickling Hgb present Negative: solution clear
140
The morphologic classification of anemias is based on? a. RBC b. Cause of the anemia c. Red blood cell indices d. Reticulocyte count
c. red blood cell indices.
141
Which of the following symptoms is specific for IDA? a. Fatigue b. Koilonychia c. Palpitations d. Dizziness
b. Koilonychia
142
Which of the following laboratory tests would be abnormal through each stage of iron deficiency? a. Serum Iron b. Hgb and Hct c. RBC d. Serum Ferritin
d. Serum Ferritin
143
A patient presents with microcytic hypochromic anemia with ragged-looking red blood cells in the peripheral smear and a high reticulocyte count. A brilliant cresyl blue preperation reveals inclusions that look like pitted golf balls. These inclusions are suggestive of? a. Hgb H disease b. Beta THA major c. Hereditary Hemochromatosis d. Beta THA trait
a. Hgb H disease
144
The most cost effective treatment for a patient with Hereditary Hemochromatosis? a. Desferyl chelation b. bone marrow transplant c. Therapeutic phlebotomy d. stem cell transplant
c. Therapeutic phlebotomy
145
List two sets of lab data that can distinguish IDA from Beta thallasemia trait? a. Serum Iron and RBC b. Hgb and Hct c. WBC and RDW d. Red blood cell indices and platelets
a. Serum Iron and RBC
146
``` What is the majority Hgb in Beta THA Major? a. Hgb A b. Hgb A2 c. Hgb F c . Hgb H ```
c. Hgb F
147
Of the 4 Alpha THAs, which is incompatible with life? a. A THA silent b. A THA trait c. Hgb H d. Bart's Hydrops fetalis
d. Bart's Hydrops fetalis
148
Which of the following Hgbs has the chemical confirmation Beta4? a. Hgb Barts b. Hgb Gower c. Hgb H d. Hgb Portland
c. Hgb H
149
Although there aare many complications in individuals with THA major. Which of the following is the leading cause of death? a. Splenomegaly b. Cardiac complications c. hepatitis C infections d. Pathologic fractures
b. Cardiac complications
150
Which of the following inclusions cannot be visualized by the Wright-stained peripheral smear? a. Basophilic stipling b. Hgb H inclusion bodies c. Howell-Jolly Bodies d. Heinz Bodies
d. Heinz Bodies
151
Which of the following functions most affects spherocytes as they travel trough circulation? a. tend to form inclusion bodies b. less deformable and more sensitive to low glucose in the spleen c. they tend to be sequestered in the spleen because of abnormal hemoglobin d. they form siderotic granules and cannot navigate circulation
b. less deformable and more sensitive to low glucose in the spleen
152
Many individuals with hereditary spherocytosis are prone to jaundice because of? a. Epstein-Barr Virus b. pathologic fractures c. gallstone disease d. skin pigmentation
c. gallstone disease
153
Which of the following are characteristics of HP? a. Elliptocytes with sperocytes intermixed with in peripheral smear b. Sperhocytes with polychromasia and low MCV c. Elliptocytes, spherocytes, and budding red blood cells d. Mostly elliptocytes and few other morphologies.
c. Elliptocytes, spherocytes, and budding red blood cells
154
What red blood cell morphology is formed as a result of Heinz bodies being pitted from the RBC? a. Acanthocytes b. Bite cells c. Burr cells d. Stomatocytes
b. Bite cells
155
All of the following statements are correct about G6PD deficiency EXCEPT? a. It is the most common glycolitic enzyme deficiency assciated with the pentose phosphate pathway b. It increases formation of heinz bodies c. it causes Hgb to be oxidized from ferrous to ferric state d. It is transmitted on a mutant gene on the X chromosome
c. it causes Hgb to be oxidized from ferrous to ferric state
156
Which of the following factors contributes to the the pathophysiology of sickling? a. Increased iron concentration b. Hypochromia c. Fava beans d. Dehydration
d. Dehydration
157
Which of the following statements pertains to the the most clinically significant Hgb variants? a. most are fusion Hgbs b. most are single amino acid subs c. most are synthetic defects d. most are extensions of the amino acid chain
b. most are single amino acid subs
158
Which of the following Hgbs ranks second in varient Hgbs worldwide? a. Hgb S b. Hgb E c. Hgb H d. Hgb C
b. Hgb E
159
``` Which of the following shows crystal "gold bars' in the peripheral smear? a. Hgb CC b. Hgb DD c Hgb EE d. Hgb SS ```
a. Hgb CC
160
Which of the following Hgb Seperation methods is used for most newborn Hgb screening? a. HPLC b. Alkaline Electrophoresis c. Isoelectric focusing d. Acid electrophoresis
c. Isoelectric focusing
161
Which Hgbs migrate to the same location at pH 8.6? a. Hgb F, Hgb H, Hgb Barts b. Hgb A2, Hgb s, Hgb C c. Hgb A2, Hgb C, Hgb E d. Hgb D, Hgb O, Hgb F
c. Hgb A2, Hgb C, Hgb E
162
All but one of the following may be seen in the peripheral smear when sickle cell crisis has occurred? a. Target cells b. NRBCs c. Polychromasia d. Moderate elliptocytes
d. Moderate elliptocytes
163
Which Hgbs travel together at pH 8.6? a. Hgb F, Hgb H, Hgb Barts b. Hgb S, Hgb D, Hgb G c. Hgb A2, Hgb C, Hgb E d. Hgb D, Hgb O, Hgb F
b. Hgb S, Hgb D, Hgb G
164
Which Hgbs migrate to the same point at pH 6.0? a. Hgb A, Hgb O, Hgb A2, Hgb D, Hgb G Hgb E b. Hgb S, Hgb D, Hgb G c. Hgb A2, Hgb C, Hgb E d. Hgb D, Hgb O, Hgb F
a. Hgb A, Hgb O, Hgb A2, Hgb D, Hgb G Hgb E
165
Which test clarifies varying degrees of anemia?
Microhematocrit
166
A non specific screening test for inflammation?
Erythrocyte sedimentation Rate
167
ESR is diagnostic in what 3 disease states?
Multiple myeloma Temporal Arteris Polymyalgia rheumatic
168
Which test is an indicator of the bone marrow's ability to produce RBCs?
reticulocyte count
169
How many RBCs screen in a reticulocyte count?
1000

Hematology MLT (5 decks)

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