Heme Flashcards
(328 cards)
1
Q
Erythrocytes Microscopic Anatomy
A
small and biconcave
do not contain mitochondria or a nucleus
hemoglobin: four globin proteins and iron
Cl/HCO3 antiporter
2
Q
Erythrocytes Origins
A
bone marrow
3
Q
Erythrocytes` Maturation
A
in blood
4
Q
Erythrocytes function
A
oxygen transport
transport of carbon dioxide
5
Q
Erythrocytes` regulation
A
erythropoietin
low oxygen levels, increased levels of androgens
need iron, copper, zinc, folate, and B12
6
Q
Erythrocytes synthesis
A
EPO -> bone marrow and iron is released from storage to red marrow -> stem cell -> erythroblast -> reticulocyte -> RBC
7
Q
Erythrocytes degradation
A
120 days broken down in liver and spleen
globin -> amino acids
heme -> biliverdin -> bilirubin
iron -> bound to transferrin -> ferritin
8
Q
Thrombocytes Microscopic Anatomy
A
anucleate, roughly disc-shaped small cytoplasmic fragments
dense granules: CASH Ca, ADP, Serotonin, Histamine
alpha granules:
9
Q
Thrombocytes Origins
A
bone marrow
10
Q
Thrombocytes Maturation
A
bone marrow
11
Q
Thrombocytes function
A
platelet plug
12
Q
Thrombocytes regulation
A
thrombopoietin from kidney
13
Q
Thrombocytes synthesis
A
thrombopoietin from kidney -> myeloid stem cells -> megakaryoblast -> megakaryocytes -> platelets
14
Q
Thrombocytes degradation
A
8-10 phagocytized by macrophages
15
Q
Neutrophil Microscopic Anatomy
A
segmented nuclei
leukocyte alkaline phosphatase, collagenase, lysozyme, lactoferrin, proteinase, acid phosphatase, myeloperoxidase, beta-glucuronidase
16
Q
Basophil Origins
A
bone marrow
17
Q
Neutrophil Maturation
A
mature in bone marrow and release into blood 2 days after maturation
18
Q
Neutrophil function
A
phagocytosis
19
Q
Neutrophil regulation
A
presence of bacteria
colony -stimulating factors
20
Q
Neutrophil synthesis
A
colony -stimulating factors bind multipotent stem cell -> myeloid stem cell -> band -> neutrophil
21
Q
Eosinophil Microscopic Anatomy
A
2 lobed nucelli w/ red granules
antihistamine, peroxidase, major basic protein, eosinophil cationic protein, eosinophil-derived neurotoxin
22
Q
Eosinophil Origins
A
myeloid stem cell
bone marrow
23
Q
Eosinophil Maturation
A
bone marrow
24
Q
Neutrophil degradation
A
circulate for 6-10 h move into tissue 2-6 days and then apoptosis by macrophages
25
Eosinophil regulation
T cell
| colony -stimulating factors
26
Eosinophil synthesis
colony -stimulating factors bind to stem cell -> myeloid stem cell -> eosinophil-basophil progenitor -> myeloblast -> eosinophil
27
Eosinophil degradation
6 days
28
Monocyte Origins
myeloid stem cells
29
Monocyte Maturation
bone marrow
30
Monocyte function
phagocytize
| attract other leukocytes
31
Basophil Maturation
blood
32
T lymphocyte function
attack foreign or diseased cells
33
Basophil regulation
IgE, IL-13, IL-4
| colony -stimulating factors
34
Basophil synthesis
colony -stimulating factors bind to stem cell -> myeloid progenitor -> eosinophil-basophil progenitor -> myeloblast -> basophil
35
NK function
capable of recognizing cells that do not express “self” proteins on their plasma membrane
36
Monocyte Origins
myeloid stem cells
| bone marrow
37
Monocyte Maturation
blood
38
Monocyte function
turns to macrophage
phagocytize
attract other leukocytes
39
Monocyte regulation
IL-3, stem cell factor, granulocyte-macrophage colony-stimulating factor, and macrophage colony-stimulating factor
40
Monocyte synthesis
colony -stimulating factors to stem cell -> myeloid -> granulocyte-monocyte progenitor -> monoblast -> promonocyte -> monocyte -> macrophage
41
Monocyte degradation
months
42
T lymphocyte Microscopic Anatomy
one large nucleus
| receptors on membrane
43
T lymphocyte Origins
bone marrow
44
T lymphocyte function
CD8: kill target cells
CD4: activating other immune cells, releasing cytokines, and helping B cells to produce antibodies.
45
T lymphocyte regulation
infection or foreign substance
46
T lymphocyte synthesis
stem cell -> lymphoid progenitor -> small lymphocyte -> T lymphocyte
47
B lymphocytes Microscopic Anatomy
large nucleus
48
B lymphocytes Microscopic Anatomy
large nucleus
| receptors on membrane
49
B lymphocytes function
produce antibodies, antigen-presenting cells, supporting other mononuclear cells
50
B lymphocytes synthesis
hematopoietic stem cell -> pro-B cell -> pre B cell -> immature B cell -> transitional/regulatory b cell -> naive be cell
51
NK Microscopic Anatomy
large, granular, perforin and granzyme
52
NK Origins
lymphoid stem cells
| bone
53
NK function
capable of recognizing cells that do not express “self” proteins on their plasma membrane,
54
NK regulation
IL-12
55
NK synthesis
Hematopoietic stem cell -> lymphoid progenitor -> NK
56
Hematopoiesis
reg: interleukins, colony -stimulating factors, erythropoietin, thrombopoietin
57
Hematopoiesis
reg: interleukins, colony -stimulating factors, erythropoietin, thrombopoietin
Formation of WBC and RBC
58
Hemostasis
1. nerve in surrounding area detect the injury and reflexive contraction/vasoconstriction
2. endothelin is secreted by endothelial cells which causes smooth muscle to constrict
3. damage endothelium releases von Willebrand's Factor that binds to exposed collagen
4. platelets circulating bind to the VWF via GP1B receptor
5. platelet changes shape, releases vWF, serotonin, and Ca, ADP, thromboxane A2
6. this attracts more platelets and activate other platelets that haven't bound to vWF, ADP and thromboxane A2 bind to platelets and activate them
7. platelets can bind to collagen, platelets can bind fibrinogen via GPIIB/IIIA linking two platelets together
8.
59
Hemostasis Primary
1. nerve in surrounding area detect the injury and reflexive contraction/vasoconstriction
2. endothelin is secreted by endothelial cells which causes smooth muscle to constrict
3. damage endothelium releases von Willebrand's Factor that binds to exposed collagen
4. platelets circulating bind to the VWF via GP1B receptor
5. platelet changes shape, releases vWF, serotonin, and Ca, ADP, thromboxane A2
6. this attracts more platelets and activate other platelets that haven't bound to vWF, ADP and thromboxane A2 bind to platelets and activate them
7. platelets can bind to collagen, platelets can bind fibrinogen via GPIIB/IIIA linking two platelets together
60
Secondary Hemostasis
1. trauma Factor III in the smooth muscle binds active factor VII w/ Ca forming a VIIa-TF complex on membrane
2. cleaves factor X to Xa
3. cleaves factor 5 to 5a then binds together which activates Factor II to Factor IIa uses Ca as cofactor
4. IIa activates platelets, factor 5, factor 8, and IX, cleaves factor I to Ia, activates XIII to XIIIa
6. fibrin forms long protein chains holding platelets together
7. XIIIa forms cross links bw fibrin chains
8. XII + phosphate cleaves into XIIa
9. XIIa cleaves factor XI into XIa + Ca cleaves IX
10. IXa binds to VIIIa cleaving X into Xa
61
Iron Deficiency Anemia def
decrease in healthy RBC due to deficiency in iron
62
Iron Deficiency Anemia cause
```
Chronic bleeding (cancer, menses, h pylori, hookworms, etc)
Malnutrition
Absorption disorders
Gastrectomy/surgery
Pregnancy, childhood
```
63
Iron Deficiency Anemia path
↓ iron -> impaired hemoglobin production -> bone marrow pumps out small and pale RBC -> ↓ O2 to tissue -> ↑ BM activation -> ↑ poikilocytosis (shape) and anisocytosis (size) -> defective mitochondrial enzymes
64
Iron Deficiency Anemia comp
Plummer-Vinson syndrome (triad of IDA, esophageal webs, dysphagia)
65
Iron Deficiency Anemia comp
Plummer-Vinson syndrome (triad of IDA, esophageal webs, dysphagia)
Glossitis
esophageal webs
66
Iron Deficiency Anemia clinical
Fatigue, conjunctival pallor, palpitation, pica, spoon nails (koilonychia), SOB, hair loss
67
a-Thalassemia def
genetic disorder decadency in alpha chains in hemoglobin
68
a-Thalassemia cause
a-globin gene deletions on chromo 16, decreased a-globin synthesis
69
a-Thalassemia cause
a-globin gene deletions on chromo 16, decreased a-globin synthesis
autosomal recessive
70
a-Thalassemia path
```
Cis or trans deletion on chromosome that results in absent/reduced alpha globin chains
1 gene carrier
2 genes mild anemia
3 genes hemoglobin H
4 genes incompatible for life
```
71
a-Thalassemia RF
Cis deletion - Asian populations
Trans deletion - African populations
areas of high incidence of malaria
72
a-Thalassemia comp
chronic tissue hypoxia, leg ulcers, high output heart failure, hypermetabolic state, gallstones, bone marrow hyperplasia, bone marrow widens structural malformations, iron deposition in liver, myocardium, pancreas, and kidney
73
Lead Poisoning-Related Anemia cause
lead exposure
74
Lead Poisoning-Related Anemia def
anemia due to lead poisoning
75
Lead Poisoning-Related Anemia RF
contaminated water, lead paint, industrial emissions (smelters, refiners, battery manufacturing, recycling) , lead-glazed ceramics
76
Lead Poisoning-Related Anemia comp
developmental delays, learning difficulties, chronic kidney disease, HTN, low libido, infertility, SIADH,
77
Lead Poisoning-Related Anemia clinical
fatigue, dyspnea, activity intolerance, abdominal pain, headache, difficulty concentrating, muscle/joint pain, confusion, ataxia
78
Beta Thalassemia def
deficiency or absence in the beta chains
79
Lead Poisoning-Related Anemia clinical
fatigue, dyspnea, activity intolerance, abdominal pain, headache, difficulty concentrating, muscle/joint pain, confusion, ataxia
80
Beta Thalassemia cause
mutation in beta globins
1: carrier
2: mild anemia
81
Beta Thalassemia path
genetic mutation -> absent/lack beta chains -> unstable hemoglobin
82
Beta Thalassemia comp
chronic tissue hypoxia, leg ulcers, high output heart failure, hypermetabolic state, gallstones, bone marrow hyperplasia, bone marrow widens structural malformations, iron deposition in liver, myocardium, pancreas, and kidney
83
Beta Thalassemia RF
FH, Mediterranean, middle eastern, southeast Asian, African genetic descent
84
Autoimmune Hemolytic Anemia def
low levels of RBC due to destruction of them
85
Autoimmune Hemolytic Anemia cause
autoantibodies against antigens on RBCs surface at or below body temp
86
Autoimmune Hemolytic Anemia path
Warm: IgG to Rh on RBC at normal body temp, antibody fixes complement + binds to RBC membrane -> antibody-coated RBCs destroyed extravascular by macrophages in spleen, liver
Cold: IgM, I, i, P
antibodies activate direct complement system attack, intravascular, complement-mediated
87
Autoimmune Hemolytic Anemia RF
immune deficiencies, malignancies, certain drugs, measles, varicella, mycoplasma, H. influenza, lymphoproliferative disorders, autoimmune disorders,
88
Autoimmune Hemolytic Anemia RF
immune deficiencies, malignancies, certain drugs, measles, varicella, mycoplasma, H. influenza, lymphoproliferative disorders, autoimmune disorders, exposure to cold
89
Autoimmune Hemolytic Anemia comp
venous thromboembolism, cholelithiasis, renal insufficiency, cardiac comp (older)
90
Autoimmune Hemolytic Anemia clinical
pallor, fatigue, activity intolerance, bounding pulses, tachycardia, pulmonary congestion,
cold: hemoglobinuria, jaundice, pain in legs and back, anemia, acrocyanosis, Raynaud's, anemia after infx
91
Autoimmune Hemolytic Anemia clinical
pallor, fatigue, activity intolerance, bounding pulses, tachycardia, pulmonary congestion,
cold: hemoglobinuria, jaundice, pain in legs and back, anemia, acrocyanosis, Raynaud's, anemia after infx
92
Glucose-6-Phosphate Dehydrogenase Deficiency cause
inherited, X-linked of G6PD
93
Glucose-6-Phosphate Dehydrogenase Deficiency path
inadequate G6PD, GSH -> oxidative stress -> build-up of free radicals, peroxides -> precipitation of hemoglobin -> disruption of cell membrane -> ↑ cellular rigidity -> extravascular hemolysis, accelerated removal of damaged RBCs by reticuloendothelial system in spleen; intravascular hemolysis may also occur
94
Glucose-6-Phosphate Dehydrogenase Deficiency path
inadequate G6PD, GSH -> oxidative stress -> build-up of free radicals, peroxides -> precipitation of hemoglobin -> disruption of cell membrane -> ↑ cellular rigidity -> extravascular hemolysis, accelerated removal of damaged RBCs by reticuloendothelial system in spleen; intravascular hemolysis may also occur
95
Glucose-6-Phosphate Dehydrogenase Deficiency comp
favism
96
Glucose-6-Phosphate Dehydrogenase Deficiency clinical
pallor, jaundice, dark urine, abdominal/back pain, renal insufficiency,
97
Hemolytic Disease of the Newborn def
anemia of the newborn from destruction of RBCs
98
Hemolytic Disease of the Newborn cause
Rh, A, B, AB, O blood groups
99
Hemolytic Disease of the Newborn path
fetomaternal hemorrhage exposes maternal circulation to antigens present on fetal RBCs -> maternal sensitization -> formation of maternal IgG antibodies against fetal RBCs -> IgG antibodies small enough to cross placenta -> antibody attachment to fetal cells -> agglutination -> microcirculatory impairment -> hemolysis, destruction of RBCs by macrophages in reticuloendothelial system
100
Hemolytic Disease of the Newborn RF
blood group incompatibility, fetomaternal hemorrhage
101
Hemolytic Disease of the Newborn comp
anemia, hyperbilirubinemia, kernicterus, growth restriction, hydrops fetalis, erythroblastosis fetalis
102
Hemolytic Disease of the Newborn clinical
ABO: hyperbilirubinemia, anemia
Rh: hyperbilirubinemia, kernicterus, pallor, lethargy, tachycardia, tachypnea, subcutaneous edema, pleural/pericardial effusion, ascites, shock
103
Hereditary Spherocytosis def
RBC membrane defect
104
Hereditary Spherocytosis cause
autosomal dominant
| autosomal recessive
105
Hereditary Spherocytosis path
mutation of genes encoding for proteins that secure RBC membrane skeleton to plasma membrane -> membrane destabilization -> rigidity, resistance to deformability -> hemolysis
106
Hereditary Spherocytosis comp
transient aplastic crisis caused by parvovirus B19
megaloblastic anemia
neonatal icterus, non-immune hydrops fetalis
107
Hereditary Spherocytosis clinical
Mild: anemia, splenomegaly, jaundice, modest reticulocytosis, normal hemoglobin, adolescents/adults
Moderate: anemia, reticulocytosis, hyperbilirubinemia, infants/children
Severe: anemia, hyperbilirubinemia, splenomegaly,
108
Hereditary Spherocytosis RF
northern European descent
109
Paroxysmal Nocturnal Hemoglobinuria def
hematologic stem cell disorder
110
Paroxysmal Nocturnal Hemoglobinuria cause
X-linked, PIGA mutation,
111
Paroxysmal Nocturnal Hemoglobinuria path
PIGA gene mutated -> ↓ glycosylphosphatidylinositol -> ↑ susceptibility to complement activity -> complement-mediated intravascular hemolysis
112
Paroxysmal Nocturnal Hemoglobinuria path
PIGA gene mutated -> ↓ glycosylphosphatidylinositol -> ↑ susceptibility to complement activity -> complement-mediated intravascular hemolysis
113
Paroxysmal Nocturnal Hemoglobinuria comp
smooth muscle dystonia, vasospasm, abdominal pain, esophageal spasm, erectile dysfunction, venous or arterial thrombosis, chronic kidney disease, BM failure, neisserial infx
114
Paroxysmal Nocturnal Hemoglobinuria clinical
dark urine, hemolysis, pallor, fatigue, exertional dyspnea
115
Pyruvate Kinase Deficiency def
deficient pyruvate kinase
116
Pyruvate Kinase Deficiency cause
autosom
117
Pyruvate Kinase Deficiency cause
autosomal recessive mutation of pyruvate kinase-LR
118
Pyruvate Kinase Deficiency path
pyruvate kinase deficiency-related block in glycolysis -> accumulation of 2,3-bisophospglucerate -> shifts oxyhemoglobin dissociation curve to right -> improved oxygen delivery to tissues -> better tolerance of hemolytic anemia -> ATP deficiency, apoptosis of erythroid progenitors in spleen
119
Pyruvate Kinase Deficiency RF
white people of Northern European descent, Asian people of Chinese descent, genetically-isolated communities of Swiss/German descent
120
Pyruvate Kinase Deficiency comp
pigmented gallstone formation, iron overload-associated organ damage, megaloblastic anemia related to folate deficiency, neonatal icterus/non-immune hydrops fetalis, transient aplastic crisis induced by parvovirus B19
121
Pyruvate Kinase Deficiency clinical
pallor, SOB, activity intolerance, jaundice, splenomegaly,
122
Sickle cell anemia def
hemolytic anemia caused by mutation of beta globin
123
Sickle cell anemia cause
mutation of beta globin
HbSS: homozygous for HbS
HbSC: heterozygous for HbS + abnormal hemoglobin C
HbSA: heterozygous HbS + hemoglobin A
HbS beta thalassemia: heterozygous HbS + 1 beta thalassemia gene
124
Sickle cell anemia path
point mutation of beta globin gene -> produces hemoglobin S -> RBC polymerize, deform into sickle/crescent-shaped forms when deoxygenated
125
Sickle cell anemia RF
areas where there are mosquitoes that carry malaria
126
Sickle cell anemia comp
ischemia/infraction, stroke, transient ischemic attack, seizures, MI, dysrhythmias, cardiomyopathy, HF, thromboembolism, leg ulcers, sudden death, acute chest syndrome, pulmonary HTN, priapism, pregnancy complications, osteoporosis, proliferative retinopathy, retinal detachment, multiorgan failure
127
Sickle cell anemia clinical
fatigue, activity intolerance, exertional dyspnea, hypersplenism, pain, vaso-occlusion, dactylitis, increased risk of infx,
128
Hemolytic normocytic anemia
hemolytic disease of newborn, G6PD, autoimmune hemolytic anemia, hereditary spherocytosis, paroxysmal nocturnal hemoglobinuria, pyruvate kinase deficiency, sickle cell anemia,
129
Macrocytic anemia
megaloblastic anemia, sideroblastic anemia,
130
Microcytic Hypochromic anemia
iron deficiency, lead poisoning, thalassemia, sideroblastic anemia, late chronic disease anemia
131
Iron deficiency lab findings
```
low serum iron
low ferritin
high iron binding capacity
hypochromic
microcytic
```
132
Lead poisoning lab findings
```
low serum iron
low ferritin
high iron binding capacity
hypochromic
microcytic
```
133
Thalassemia lab findings
```
normal or high iron
normal or high ferritin
normal iron binding capacity
hypochromic
microcytic
```
134
normocytic normochromic anemia
anemia of chronic disease, aplastic anemia, Autoimmune Hemolytic Anemia, paroxysmal nocturnal hemoglobinuria, fanconi anemia
135
Anemia of chronic disease def
deficient RBC production due to chronic disease
136
Anemia of chronic disease cause
infx, cancer, diabetes, autoimmune,
137
Anemia of chronic disease path
systemic inflammation -> ↑ circulation cytokines, IL-1, IL-6, TNF alpha, IFN beta, IFN gamma -> ↑ hepcidin secretion by liver -> ↓ iron absorption from GI tract, ↓ iron sequestration in reticuloendothelial system -> ↓ iron available for erythropoiesis -> ↓ secretion erythropoietin -> ↓ erythrocyte lifespan
138
Anemia of chronic disease labs
normochromic normocytic
low serum iron
high ferritin
139
Anemia of chronic disease labs
normochromic normocytic
low serum iron
high ferritin
low serum transferrin saturation
140
Aplastic anemia def
bone marrow hypoplasia/aplasia
141
Aplastic anemia cause
Fanconi anemia, Shwachman-Diamond syndrome, SLE, graft-versus-host disease, paroxysmal nocturnal hemoglobinuria, chemotherapy, carbamazepine, phenytoin, indomethacin, sulfonamides, Epstein-Barr, HIV, hepatitis, herpes, solvents, benzene, pesticides, radiation, idiopathic
142
Aplastic anemia comp
impaired blood immunity, hemostasis, oxygen-carrying capacities
143
Aplastic anemia path
bone marrow hypoplasia/aplasia, hematopoietic cell loss -> ↓ production of cell lineages -> peripheral pancytopenia
144
Aplastic anemia clinical
shorter lifespan, ↑ infx, neutropenia-related sepsis, gingival nares, ecchymosis, petechiae, heavy menstrual flow, occult blood in stool, intracranial hemorrhage, pallor, fatigue, dyspnea, activity intolerance, cardiorespiratory compromise
145
Aplastic anemia clinical
shorter lifespan, ↑ infx, neutropenia-related sepsis, gingival nares, ecchymosis, petechiae, heavy menstrual flow, occult blood in stool, intracranial hemorrhage, pallor, fatigue, dyspnea, activity intolerance, cardiorespiratory compromise
146
Diamond-Black Anemia def
inherited bone marrow failure syndrome
147
Diamond-Black Anemia cause
autosomal dominant
148
Diamond-Black Anemia path
genetic mutation -> ribosomopathy -> impaired hematopoiesis -> RBC aplasia -> macrocytic normochromic anemia
149
Diamond-Black Anemia RF
FH
150
Diamond-Black Anemia comp
myelogenous leukemia, myelodysplastic syndrome, solid tumors
151
Diamond-Black Anemia clinical
anemia at birth, pallor, tachycardia, apnea, lethargy, low birth weight, low-set ears, micrognathia, high-arched/cleft palate, broad nasal bridge, short neck, congenital glaucoma, cataracts, strabismus, duplex/bifid, flat thenar eminence, horseshoe or absent kidney, ventricular/atrial septal defect, coarctation of aorta,
152
Diamond-Black Anemia clinical
anemia at birth, pallor, tachycardia, apnea, lethargy, low birth weight, low-set ears, micrognathia, high-arched/cleft palate, broad nasal bridge, short neck, congenital glaucoma, cataracts, strabismus, duplex/bifid, flat thenar eminence, horseshoe or absent kidney, ventricular/atrial septal defect, coarctation of aorta,
153
Fanconi anemia def
inherited bone marrow failure syndrome
154
Fanconi anemia cause
mutation of several genes responsible for DNA repair
| VACTERL-H
155
Fanconi anemia path
impaired cellular repair of DNA cross-links -> impaired regulation of cell cycle, genomic instability -> hematopoietic stem cell loss -> macrocytic-normochromic anemia -> bone marrow aplasia -> pancytopenia
156
Fanconi anemia comp
blood and solid tumor malignancies, life-threatening infx, bleeding tendencies, hypothalamic-pituitary axis disruption, congenital anomalies
157
Fanconi anemia clinical
increased bruising, bleeding, frequent infx, pallor, SOB, exercise intolerance, microcephaly, congenital heart disease, imperforate anus, conductive deafness, hypogenitalia, café-au-lait spots
158
Fanconi anemia labs
macrocytic normochromic anemia, pancytopenia
159
Megaloblastic anemia def
anemia characterized by formation of large RBCs
160
Megaloblastic anemia cause
cobalamin and/or folate deficiency due to diet, malabsorption, medications, surgery, pancreatic insufficiency, alcoholism
161
Megaloblastic anemia path
impaired DNA synthesis during erythropoiesis -> uncoordinated maturation of cytoplasm and nuclei in erythroblasts -> abnormally large RBCs + deflective cells w/ fragile membranes -> RBC die prematurely -> anemia
162
Megaloblastic anemia path
impaired DNA synthesis during erythropoiesis -> uncoordinated maturation of cytoplasm and nuclei in erythroblasts -> abnormally large RBCs + deflective cells w/ fragile membranes -> RBC die prematurely -> anemia
163
Megaloblastic anemia RF
alcohol use, old age, strict diets,
164
Megaloblastic anemia clinical
fatigue, activity intolerance, pallor, tachycardia, bounding pulse, jaundice, splenomegaly, glossitis
165
Folate deficiency def
lack of folate
166
Folate deficiency cause
malnutrition, malabsorption, drugs (methotrexate, trimethoprim, phenytoin, pregnancy
167
Folate deficiency path
impaired DNA synthesis during erythropoiesis -> uncoordinated maturation of cytoplasm and nuclei in erythroblasts -> abnormally large RBCs + deflective cells w/ fragile membranes -> RBC die prematurely -> anemia
168
Folate deficiency RF
alcohol use, strict diets
169
Folate deficiency clinical
fatigue, activity intolerance, pallor, tachycardia, bounding pulse, jaundice, splenomegaly,
170
B12 deficiency def
lack of B12 in body
171
B12 deficiency cause
diet, malabsorption, intrinsic factor deficiency, gastrectomy, pancreatic insufficiency, biguanides, H2 receptor blockers, PPIs, neomycin, Diphyllobothrium latum
172
B12 deficiency path
impaired DNA synthesis during erythropoiesis -> uncoordinated maturation of cytoplasm and nuclei in erythroblasts -> abnormally large RBCs + deflective cells w/ fragile membranes -> RBC die prematurely -> anemia
173
B12 deficiency RF
diet, autoimmune, stomach
174
B12 deficiency comp
infertility, stomach cancer,, neural tube defect
B12 SINs
175
B12 deficiency clinical
reversible dementia, numbness, tingling, weakness
176
Folate deficiency comp
infertility, CVD, cancer, neural tube defects
177
What are the macrocytic hyperchromic anemias?
megaloblastic anemia, Vit B12, folate,
178
Which anemias is macrocytic normochromic?
Fanconi anemia
| Diamond-Black Anemia
179
Which anemia is microcytic or macrocytic hypochromic?
sideroblastic anemia
180
sideroblastic anemia def
anemia caused by altered mitochondrial function and defects in heme synthesis w/in erythroid cells
181
sideroblastic anemia cause
X-linked/autosomal recessive/mitochondrial inheritance, myelodysplastic syndromes, myeloproliferative neoplasms, excessive alcohol, isoniazid, chloramphenicol, copper deficiency, zinc overload
182
sideroblastic anemia path
impaired erythropoiesis, hemoglobin synthesis -> reduced iron in RBCs + defective RBCs undergo apoptosis w/in bone marrow + fewer functional RBCs in circulation -> anemia
183
sideroblastic anemia RF
genetics, alcohol, diet
184
sideroblastic anemia comp
iron overload, hemochromatosis, erythroid hyperplasia of bone marrow, increased risk of infx, acute leukemia, infx fatal
185
sideroblastic anemia clinical
fatigue, dyspnea, palpitations, pallor, mild jaundice, hepatosplenomegaly, cardiac arrhythmias, HF
186
Which anemia is Microcytic hyperchromic
hereditary spherocytosis
187
Polycythemia Vera def
increased blood cells levels due to overproduction by bone marrow
188
Polycythemia Vera cause
JAK2V617F mutation
189
Polycythemia Vera path
hematopoietic stem cell -> ↑ RBCs, platelets, basophils, eosinophils -> ↑ blood viscosity, ↑ total blood volume -> may evolve into spent phase
190
Polycythemia Vera RF
age, genetics
191
Polycythemia Vera comp
HTN, Budd-Chiari syndrome, DVT, arterial thrombosis, MI, gout, AML
192
Polycythemia Vera clinical
headache, fatigue, dizziness, dyspnea, plethora, cyanosis, pruritus, gastric ulcers, DVT, MI, portal vein thrombosis, hyperemic and inflamed extremities, bleeding gums, epistaxis, ecchymoses, GI bleed, hepatosplenomegaly, HTN
193
Polycythemia secondary def
overproduction of RBCS
194
Polycythemia secondary cause
Chronic lung disease, CHF, Carbon monoxide poisoning, obstructive sleep apnea, renal artery stenosis, tumors, drugs, adrenal cortical hypersecretion
195
Polycythemia secondary path
↓ oxygen to tissue -> ↑ EPO -> ↑ RBCs
196
Polycythemia secondary RF
genetics, meds, smoking,
197
Polycythemia secondary comp
stroke, venous thromboembolism, pulmonary HTN, Increased whole blood viscosity,
198
Polycythemia secondary clinical
fatigue, headache, and dizziness
199
Disseminated Intravascular Coagulation def
process of hemostasis gets out of control leading to overproduction of clots,
200
Disseminated Intravascular Coagulation cause
```
DIC TEAR
Delivery TEAR: obstetric
Infection
Cancer: prostate, pancreas, lung, stomach
Toxemia of pregnancy
Emboli
Abruptio placentae
Retain fetus products
```
preeclampsia, obstetric hemorrhage, retained dead fetus, critical illness, mucin-secreting adenocarcinoma, acute promyelocytic leukemia, infx/sepsis (gram - bacteria), massive tissue injury, intravascular hemolysis, shock, snakebites
201
Disseminated Intravascular Coagulation path
release of procoagulants, tissue factors, bacterial components, enzymes/major endothelial injury -> excessive activation of coagulation cascade -> thrombosis of small/medium blood vessels -> activation of fibrinolysis to resolve clots -> fibrin degradation products released into circulation -> interfere w/ platelet aggregation, clot formation
202
Disseminated Intravascular Coagulation RF
sepsis, cancer, blood transfusion reaction, pancreatitis, liver disease, surgery, anesthesia,
203
Disseminated Intravascular Coagulation comp
thromboembolism, tissue hypoxia, infraction, hypoxia of kidney, liver, lung, brain
204
Hemophilia A def
a condition where clots hemostasis is impaired leading to increased bleeding
205
Hemophilia A cause
X-linked recessive mutation F8 gene
206
Hemophilia A path
quantitative/qualitative deficiency of factor VII -> insufficient activation of the intrinsic pathway -> defect in common coagulation pathway -> increased tendency for bleeding
207
Hemophilia A RF
male
208
Hemophilia A comp
intracerebral hemorrhage, stroke
209
Hemophilia A clinical
asymptomatic
easy bruising, prolonged bleeding, hematomas, muscle hematomas, hemophilic pseudotumor, GI bleeding, hematuria, severe epistaxis, joint irregularity and disability,
210
Hemophilia B def
deficiency in clotting factors
211
Hemophilia B cause
mutation of F9 on X chromosome
212
Hemophilia B path
qualitative/quantitative deficiency of coagulation factor IX -> insufficient activation of intrinsic coagulation pathway -> impaired hemostasis
213
Hemophilia B comp
intracerebral hemorrhage, stroke
214
Hemophilia B RF
genetics, male
215
Von Willebrand Disease def
defective platelet function w/ normal platelet count
216
Von Willebrand Disease cause
autosomal dominant/recessive
217
Von Willebrand Disease path
quantitative/qualitative deficiency of vWF -> impaired platelet aggregation, adhesion, dysfunction of factor VII -> deficiency in coagulation cascade -> bleeding tendency
218
Von Willebrand Disease RF
genetics
219
Von Willebrand Disease comp
severe bleeding, pregnancy probs
220
Von Willebrand Disease clinical
asymptomatic
surgery/trauma bring on
spontaneous epistaxis, easy bruising, excessive bleeding from wounds, bleeding gums, menorrhagia, GI bleeding, internal/joint bleeding
221
Immune Thrombocytopenic Purpura def
autoimmune condition where body makes antibodies to thrombocytes/platelets
222
Immune Thrombocytopenic Purpura cause
Acute: children after viral infx
Chronic: females of reproductive age, no underlying trigger, or by hepatitis C, HIV, lupus
223
Immune Thrombocytopenic Purpura path
IgG antibodies from the spleen -> bind to GPIIb/IIIa on platelet -> target for destruction of platelets in spleen
224
Immune Thrombocytopenic Purpura clinical
asymptomatic
| purpura (red/purple spots small)
225
Immune Thrombocytopenic Purpura RF
women, no vaccination,
226
Immune Thrombocytopenic Purpura comp
hemorrhage
227
Immune Thrombocytopenic Purpura clinical
asymptomatic
purpura (red/purple spots small)
epistaxis
228
Vitamin K Deficiency def
lack of Vit K
229
Vitamin K Deficiency cause
exclusive breastfeeding, medication, lack of Vit K1 prophylaxis at birth, malabsorption, low intake, diseases of SM intestine, liver, gallbladder, pancreas
230
Vitamin K Deficiency path
↓ phylloquinone ( vit K) -> ↓ bile salts make fat soluble vitamin soluble -> ↓ incorporation into GI micelles -> ↓ absorbed by small intestine -> ↓ integrated into chylomicrons -> ↓ transported to portal circulation -> ↓ liver use to synthesize coagulation factors, other essential proteins
231
Vitamin K Deficiency RF
infants: no K1 prophylaxis, immature liver, low K stores, sterile gut, maternal ingestion of coumarin-like anticoagulants/some anticonvulsants/antibiotics,
adults: prolonged diarrhea, antibiotics, low intake, TPN administration
232
Vitamin K Deficiency comp
intracranial hemorrhage, impaired bone mineralization, vascular calcium deposits
233
Vitamin K Deficiency clinical
low bone density signs, gingival bleeding, epistaxis, easy bruising, hematuria, melena, umbilical stump/circumcision site bleeding, vomiting, seizures
234
Acute Lymphoblastic Leukemia (ALL) def
uncontrolled proliferation of partially developed white blood cells/lymphoblasts, cancer
235
Acute Lymphoblastic Leukemia (ALL) cause
B cell: translocation (12,21) and (9,22) Philadelphia chromosome
T cell: NOTCH1 mutation
abnormal chromosome number
236
Acute Lymphoblastic Leukemia (ALL) path
mutations -> loss ability to differentiate into mature blood cells -> stuck in blast cells -> don't function effectively and divide uncontrollably -> other cells get crowded out -> leading to anemia, thrombocytopenia, and leukopenia -> blast cells spill into blood travel to thymus, lymph nodes, liver, spleen to enlarge
237
Acute Lymphoblastic Leukemia (ALL) RF
young age
down syndrome
radiation exposure
alkylating chemotherapy
238
Acute Lymphoblastic Leukemia (ALL) comp
intracranial hemorrhage
239
Acute Lymphoblastic Leukemia (ALL) clinical
Fever, fatigue, SOB, pallor, bruising, petechiae, epistaxis, Bone pain, Hepatosplenomegaly, lymphadenopathy, easy bleeding, inc infx, thymus enlargement
240
Acute Myeloblastic Leukemia (AML)
| def
uncontrolled proliferation of myeloblasts, cancer
241
Acute Myeloblastic Leukemia (AML) cause
chromosomal translocations (15, 17), myelodysplastic syndrome
242
Acute Myeloblastic Leukemia (AML) path
mutations -> loss ability to differentiate into mature blood cells -> stuck in blast cells -> don't function effectively and divide uncontrollably -> other cells get crowded out -> leading to anemia, thrombocytopenia, and leukopenia -> blast cells spill into blood travel to thymus, lymph nodes, liver, spleen to enlarge
243
Acute Myeloblastic Leukemia (AML) RF
down syndrome
radiation
alkylating chemotherapy
244
Acute Myeloblastic Leukemia (AML) comp
DIC
245
Acute Myeloblastic Leukemia (AML) clinical
easy bleeding, inc infx, Fever, fatigue, SOB, pallor, bruising, petechiae, epistaxis, Bone pain, swelling of gums
246
Chronic Myelogenous Leukemia (CML) def
cancer rapid proliferation of mature granulocytes/precursors
247
Chronic Myelogenous Leukemia cause
Philadelphia chromosome t(9,22) BCR-ABL gene
trisomy of chromosome
doubling of Philadelphia chromosome
248
Chronic Myelogenous Leukemia path
mutation -> tyrosine kinase is one -> rapid division of myeloid cells -> spill into blood -> liver spleen cause to swell
249
Chronic Myelogenous Leukemia RF
adult age, radiation, benzene
250
Chronic Myelogenous Leukemia comp
Recurrent infections, bleeding
251
Chronic Myelogenous Leukemia clinical
chronic: asymptomatic, fatigue, weight loss, fever,
accelerated phase: pallor, SOB, splenomegaly, hepatomegaly, lymphadenopathy, recurrent infx, bleeding, petechiae, ecchymoses,
blast crisis: bone pain, fever, anemia, significant splenomegaly, inc bleeding, basophilia
252
Chronic Lymphocytic Leukemia def
cancer, proliferation of mature, functionally abnormal B lymphocytes in bone marrow and don't die
253
Chronic Lymphocytic Leukemia path
mutation -> interfere w/ B cell receptors -> activate tyrosine kinase (bruton's tyrosine kinase and other) -> prevent maturation and slow death - move to lymph nodes
254
Chronic Lymphocytic Leukemia clinical
fatigue, SOB, pallor, bruising, petechiae, epistaxis, fever, pneumonia, sepsis, lymphadenopathy
255
Burkitt’s Lymphoma def
B lymphocyte tumor
256
Burkitt’s Lymphoma cause
chromosomal translocation t(8,14)
257
Burkitt’s Lymphoma path
translocation -> Myc gene moved adjacent to IgH promoter sequence -> upregulation of Myc gene -> Myc gene simulates cell growth, metabolism -> increased cell division
258
Burkitt’s Lymphoma RF
EBV infection, Africa
259
Burkitt’s Lymphoma clinical
“Starry sky” appearance
260
Hodgkin Lymphoma def
cancer arising from B-cells
261
Hodgkin Lymphoma cause
nodular sclerosis
262
Burkitt’s Lymphoma clinical
“Starry sky” appearance (b-cells w/ no cytoplasm and tingible-body macrophages w/ dead neoplastic cells)
extranodal involvement at jaw (Africa) or ileocecal junction
263
Subtypes of Classical Hodgkin Lymphoma
nodular sclerosis: most common, nodules surrounded by collagen, lacunar cell
mixed cellularity: b lymphocytes, plasma cells, eosinophils, lymphocytes, neutrophils, histocytes, immunocompromised
lymphocyte-rich: lymphocytes surrounding Reed-Sternberg cells, best prognosis
lymphocyte-depleted: lack of normal lymphocytes, abundance of Reed-Sternberg cells, immunocompromised
264
Hodgkin Lymphoma cause
mutation in DNA
265
Hodgkin Lymphoma path
mutation -> cell growth and division
266
Hodgkin Lymphoma RF
20, 60s< EBV
267
Hodgkin Lymphoma comp
second cancer
268
Hodgkin Lymphoma clinical
spread to nearby lymph nodes in a contiguous manner
swollen lymph nodes that are painless, rubbery, non-erythematous, nontender including cervical
supraclavicular and axillary
fever, weight loss, night sweats
Reed-Sternberg cells (binucleated neoplastic B cells)
269
Non-Hodgkin Lymphoma def
cancer of the B or T cells
270
Non-Hodgkin Lymphoma cause
chromosomal translocation (14, 18) BCL2 gene, BCL-6 and BCL-2 mutation, Human T-Lymphotropic Virus, chromosomal translocation (11, 14) BCL1 gene
271
Non-Hodgkin Lymphoma path
mutations -> uncontrolled cell division
272
Non-Hodgkin Lymphoma RF
old age, smoking, FH,
273
Non-Hodgkin Lymphoma comp
metastases, respiratory problems
274
Non-Hodgkin Lymphoma clinical
swollen lymph nodes that are painless, rubbery, non-erythematous, nontender in bone marrow, GI tract, spinal cord, fever, weight loss night sweats
275
Subtypes of Classical Hodgkin Lymphoma
nodular sclerosis: most common, nodules surrounded by collagen, lacunar cell, young age,
mixed cellularity: b lymphocytes, plasma cells, eosinophils, lymphocytes, neutrophils, histocytes, immunocompromised
lymphocyte-rich: lymphocytes surrounding Reed-Sternberg cells, best prognosis
lymphocyte-depleted: lack of normal lymphocytes, abundance of Reed-Sternberg cells, immunocompromised, rare, 30-37
276
Nodular Lymphocyte Predominant Hodgkin Lymphoma
abnormal b cells express CD20 & CD 45 and don't express CD15 & CD30
popcorn cells, large number of lymphocytes cluster around popcorn cells forming nodules
277
Follicular Lymphoma cause
chromosomal translocation (14, 18) BCL2 gene
278
Mantel cell Lymphoma RF
male
279
Marginal Zone Lymphoma RF
older people, H. pylori, hepatitis C
280
Follicular Lymphoma clinical
waxing/waning lymphadenopathy
281
Diffuse Large B-cell lymphoma def
b cell lymphoma, aggressive growth of b cells, most common in adults
282
Diffuse Large B-cell lymphoma cause
BCL-6 and BCL-2 mutation
283
Mantel cell Lymphoma cause
chromosomal translocation (11, 14) BCL1 gene
284
Adult T-cell Lymphoma def
proliferation of T cell
285
Adult T-cell Lymphoma cause
Human T-Lymphotropic Virus
286
Adult T-cell Lymphoma path
Human T-Lymphotropic Virus RNA -> DNA -> incorporates into T cell DNA -> cancer
287
Adult T-cell Lymphoma clinical
severe hypercalcemia, bone lesions
288
Mycosis Fungoides clinical
patch or plaque like lesions that look like fungal infection, Pautrier micro abscesses in the epidermis
289
Lymphoplasmacytic Lymphoma
bone marrow, lymph nodes, spleen, Waldenstrom macroglobulinemia
290
Adult T-cell Lymphoma cause
Human T-Lymphotropic Virus
291
Adult T-cell Lymphoma clinical
severe hypercalcemia, bone lesions
292
Mycosis Fungoides clinical
patch or plaque like lesions that look like fungal infection, Pautrier micro abscesses in the epidermis, erythroderma
293
Subtypes of Non-Hodgkin Lymphoma B cell
```
Lymphoplasmacytic Lymphoma
Marginal Zone Lymphoma
Mantel cell Lymphoma
Diffuse Large B-cell lymphoma
Follicular Lymphoma
```
294
Subtypes of Non-Hodgkin Lymphoma T cell
Mycosis Fungoides
| Adult T-cell Lymphoma
295
Multiple Myeloma def
cancer of plasms cells in bone marrow
296
Multiple Myeloma cause
t(14, 11), t( 14,6), deletion of gene TP53 tumor suppressor on chromosome 17
297
Multiple Myeloma RF
alcohol consumption, obesity, radiation, FH
298
Multiple Myeloma comp
amyloidosis, renal failure, death, UTIs, pneumonia, hyper-viscosity syndrome
299
Multiple Myeloma path
bone marrow cells, myeloma cells secrete cytokines, IL6, NF-kB -> promote proliferation, survival myeloma cells -> bone resoprtion, monoclonal free light chains, inhibited hematopoiesis, and IL1beta, TNFalpha -> bone lesions, renal disease, anemia, and high calcium
300
Multiple Myeloma clinical
CRAB (calcium, renal disease, anemia, bone lesions)
confusion, somnolence, constipation, N, thirst, fatigue, pallor, fever, infections, bleeding, bone lesions, pain, fractures, spinal cord compression, paresthesia, Bence Jones, Tamm-Horsfall proteins
301
Babesiosis def
infection of RBC by Babesia microti, ducani, or divergems
302
Babesiosis cause
Ixodes scapularis tick, contaminated blood transfusion
303
Babesiosis def
infection of RBC by Babesia microti, ducani, or divergems
304
Babesiosis RF
endemic area, May-September, blood transfusions, >50, male, asplenia, malignancy, HIV/AIDS, immunosuppressive drugs, coinfection w/ Borrelia and/or Anaplasma, premature birth
305
Babesiosis comp
CHF, noncardiac pulmonary edema, acute respiratory distress syndrome, splenic infarct, splenic rupture, septic shock, MI, disseminated intravascular coagulation, death
306
Babesiosis clinical
asymptomatic, fatigue, fever, chills, headache, myalgia, arthralgia, anorexia, N, cough, hypotension, poor prefusion, pulmonary edema, acute renal failure, disseminated intravascular coagulation
307
Babesiosis clinical
asymptomatic, fatigue, fever, chills, swears, headache, myalgia, arthralgia, anorexia, N, cough, hypotension, poor prefusion, pulmonary edema, acute renal failure, disseminated intravascular coagulation
maltese cross
308
Plasmodium species (Malaria) def
single cell parasites that get spread by mosquitoes
309
Plasmodium species (Malaria) cause
P. falciparum, P. vivax, P. malariae, P. ovale, P. knowlesi
310
Plasmodium species (Malaria) cause
P. falciparum (few days), P. vivax, P. malariae (few weeks), P. ovale, P. knowlesi
311
Plasmodium species (Malaria) path
P-infected female anopheles mosquito hunts for a blood meal in evening -> Plasmodium is in a sporozoite stage in salivary gland -> mosquito's proboscis piece skin sporozoites spill into bloodstream -> liver start asexual reproduction called schizogony -> over 1-2 weeks P. falciparum, malariae, knowlesi multiply asexually & mature to merozoites -> 1 mon-years P. ovale and vivax go dormant -> merozoites bind to duffy receptor on all different stages of RBC --> asexual reproduction 2-3 days -> trophozoite -> late trophozoite -> hemozoin/schizont -> replication -> release into RBC -> some turn into gametocytes and taken up by mosquitos -> mature and fuse into a zygote in gut -> ookinete -> oocyst rupture releasing sporozoites -> into salivary gland
312
Plasmodium species (Malaria) clinical
paroxysm of fevers P. falciparum (variable), P. vivax (48 h), P. malariae (72), P. ovale (48), P. knowlesi (24 h)
313
Plasmodium species (Malaria) comp
death, organ failure, cerebral malaria (altered mental status, seizure, coma), diarrhea, jaundice, vomiting, liver failure
314
Plasmodium species (Malaria) clinical
paroxysm of fevers P. falciparum (variable, worst infx), P. vivax (48 h), P. malariae (72), P. ovale (48), P. knowlesi (24 h)
fatigue, headaches, jaundice, splenomegaly,
Susan just headed for fiji
315
Schistosomiasis def
parasitic flatworms that cause damage in the mesenteries of the bladder
316
Schistosomiasis cause
Schistosoma haematobium, S. japonicum, and S. mansoni
317
Schistosomiasis path
Schistosoma eggs are eleminated in feces or urine into water -> eggs hatch and release miracidia -> miracidia penetrate snail tissue -> sporocyst develop in snail -> free-swimming cercariae released from snail into water -> cercariea penetrates skin -> cerciarea loses tails during penetration and becomes shcistocomulae -> migration to liver through circulation -> adult form -> migration to mesenteric venules/vesical venous plex -> egg deposit -> inflammation -> fibrosis
318
Schistosomiasis RF
male, rural areas, contact w/ fresh water bodies in endemic areas
319
Schistosomiasis comp
bacteremia, infertility, intestinal obstruction, nephrotic syndrome, renal failure, cardiomegaly, acute myelopathy
320
Schistosomiasis clinical
Acute: pruritic papular/urticarial rash of legs/feet, fever, urticaria, chills, arthralgia, myalgia, headaches, angioedema, dry cough, abdominal pain, diarrhea
chronic: abdominal pain, poor appetite, diarrhea, hepatosplenomegaly, portal HTN, ascites, dyspnea, cor pulmonale, hematuria, pyuria, dysuria, frequency, seizures, sensory/motor impairment, cerebellar syndrome
321
Plasma cell Microscopic Anatomy
clock face chromatin distribution and eccentric nucleus,
322
Plasma cell Origins
spleen and lymph node
323
Plasma cell Maturation
bone marrow
324
Plasma cell function
large amounts of antibody specific to particular antigens
325
Plasma cell regulation
transcription factors
326
Plasma cell synthesis
antigen-activated B in spleen and lymph node -> plasmablast -> plasma cells
327
Plasma cell degradation
2-3 days
328
How does hepcidin effect iron levels in body?
inhibits ferroportin-1
