Anemias (lecture 1&2) Flashcards
(286 cards)
1
Q
What is anemia?
A
Decrease in RBC mass
2
Q
Changes in red cell mass is inferred from what two things?
A
Hemoglobin concentration or hematocrit
3
Q
What is another description of anemia?
A
Insufficient red cell production and/or oxygen delivery
4
Q
What are the WHO guidelines for men and women with anemia?
A
Hemoglobin <13 g/dL in men
Hemoglobin <12 g/dL in women
5
Q
The kinetics of RBC production and destruction discloses what?
A
The etiology of anemia
6
Q
How is anemia graded?
A
1-4
7
Q
What is another way to grade anemia?
A
Mild (1), moderate (2), severe (3), life-threatening (4)
8
Q
What is the Hgb for mild/grade 1 anemia?
A
Hgb 10g/dL to lower limit of normal
9
Q
What is the Hgb for moderate/grade 2 anemia?
A
Hgb 8.0-9.9 g/dL
10
Q
What is the Hgb for severe/grade 3 anemia?
A
Hgb 6.5-7.9 g/dL
11
Q
What is the Hgb for life-threatening/grade 4 anemia?
A
Hgb <6.5 g/dL
12
Q
The RBC comprises what % of whole blood product?
A
45%
13
Q
RBC function
A
Specialized to carry oxygen to tissues and organs, full of hemoglobin, no organelles.
Facilitate CO2 elimination
14
Q
What is the RBC life span?
A
100-120 days
15
Q
How are RBCs destroyed?
A
Sensecence-hemolysis
16
Q
Retired RBCs are removed via what?
A
The RES, reticulate endothelial system
17
Q
What maintains our iron stores?
A
Scavenging by hemopexin and Haptoglobin
18
Q
New RBC production is managed by what?
A
EPO and HIF
19
Q
Hemoglobin molecule is comprised of what?
A
2 alpha-globin chains and 2 beta-globin chains
20
Q
The alpha-and beta-globin chains are bound to what?
A
Heme group which contains iron
21
Q
Hemoglobinopathies can result from what?
A
Mutations in the amino acid sequence that form the globin chains
22
Q
Production of RBCs is dependent upon raw materials including what?
A
Iron, B12, folate
23
Q
What type of stem cell do RBCs come from?
A
Pluripotent stem cells
24
Q
What is a committed cell?
A
Proerythtoblasts
25
What type of cells help with Hgb synthesis and accumulation?
Erythroblast
26
What type of cell expels its nucleus once the Hgb concentration reaches approximately 34%?
Normoblast
27
Reticulocytes contain what?
Still contain some ribosomes which are degraded by intracellular enzymes 1-2 days after being released into the bloodstream
28
What happens when there is low blood oxygen?
Liver and kidney release erythropoietin into the blood stream which goes to red bone marrow and tells it to increase number of RBCs to increase the oxygen carrying-capacity
29
EPO acts as what?
The messenger to the bone marrow to enhance red cell production
30
EPO increasing RBC production leads to what?
An increase in committed cells (proerythroblasts) and subsequently reticulocytes
31
Aging RBCs become what?
Less flexible and more fragile
32
Where are aging RBCs phagocytized?
But he macrophages in the liver, spleen and bone marrow
33
What happens to the RBCs once they are engulfed by macrophages?
Hemoglobin is broken down into heme group and protein component (globin)
34
Heme group is broken down into what?
Iron is recycled and remainder gets degraded to bilirubin
35
What are some ways to evaluate the RBC indices?
MCV, MCH, MCHC, RDW
36
What is the MCV?
Average size of the RBC
37
What are the classifications of MCV?
Microcytic: <80fl
Normocytic: 80-100fl
Macrocytic: >100fl
38
What is MCH?
Average weight of hemoglobin in RBCs
39
What is MCHC?
Average concentration of hemoglobin in RBCs
40
What are the classifications of MCHC?
Hypochromic, Normochromic
41
What is RDW?
Calculation of variation in RBC size
42
When are basophilic stippling seen?
Burn and sepsis
43
Under normal conditions RBC loss =?
RBC production
44
When reticulocyte activity is increased in setting of anemia...
It indicates bone marrow is attempting to keep up with RBC loss/destruction
45
Low reticulocyte activity can indicate what 3 things?
1. Marrow infiltration
2. Marrow failure
3. Deficiency in raw materials
46
What are some examples of marrow infiltration?
Leukemia, lymphoma, malignancy
47
What are some examples of marrow failure?
Pure red cell aplasia, MDS, fibrosis
48
What raw materials can be deficient to cause low reticulocyte activity?
B12, iron, folate
49
As anemia worsens, what happens to reticulocytes?
Leave the bone marrow sooner and are in circulation before they are mature, polychromatic seen on smear
50
What are the 4 types of MICROCYTIC anemia?
1. Iron deficiency
2. Anemia of chronic disease
3. Thalassemia
4. Siderobalstic
51
What is the most common cause of anemia world wide?
Iron deficiency anemia
52
What is the most common cause of iron deficiency anemia?
Bleeding, GI or menstrual
53
What are the different stages of iron deficient anemia?
Depletion of iron stores without anemia, then anemia with nl RBC size, then anemia with reduced RBC size
54
The average American diet contains how much iron?
10-15 mg, only 10% absorbed
55
Where is most dietary iron absorbed?
Under acidic conditions in the stomach, duodenum and jejunum
56
How much iron do males and non-menstruating females need?
1mg daily
57
How much iron do menstruating females need?
3-4mg/day
58
How much iron do pregnant females need?
2-5mg/day
59
Bleeding results in a loss of how much iron?
50mg Fe in 100cc of whole blood
60
What are the 4 different causes of iron deficiency?
1. Deficient dietary intake/decreased absorption
2. Increased requirement
3. Blood loss
4. Other
61
Deficient dietary intake/ Decreased absorption of iron
Celiac spruce, zinc deficiency
62
Increased requirement of iron?
Pregnancy, lactation
63
What “other” can cause iron deficiency?
Hemoglobinuria, idiopathic, iron sequestration
64
What can iron deficiency anemia initially present as?
Normocytic/normochromic and progress to microcytic/hypochromic
65
What are some Hx clues to iron deficient anemia?
Diet, Pica, phagophagia, glossitis, mouth soreness, angular chilitis, koionychia, dysphagia
66
What does the work up for Fe deficient anemia consist of?
Serum iron, TIBC, transferrin, ferritin
67
What are the signs and symptoms of Fe deficiency anemia?
Easily fatigued, conjunctival pallor, tachy, palpitations, DOE, pica-consumption of non-nutritive substances like ice clay or chalk, smooth tongue, brittle nails, koilonychia, cheilosis
68
What lab results would show Fe deficient anemia?
Low MCV and MCH, peripheral smear: RBCs hypochromic microcytic
69
What will iron studies show for someone with Fe deficiency anemia?
Low serum iron, low transferrin saturation, low serum ferritin, high TIBC
70
Identifying the cause of what is crucial for Fe deficient diagnosis?
BLEED! Where is it coming from?
71
What is the treatment for Fe deficiency?
Ferrous sulfate 325mg TID, 10mg is absorbed, take with VitC to increase absorption
72
What are some side effects of Ferrous sulfate?
GI upset, constipation
73
When do labs and iron studies need to be repeated if pt is put on Ferrous sulfate?
2-3 weeks of therapy-values should normalize but continue treatment for 3-6 mos
74
What inhibits iron absorption?
Fiber, dairy products, phosphates, and tea (tannins)
75
Who is parenteral iron an option for with Fe deficiency?
If they do not tolerate PO iron, refractories to PO iron, GI disease which limits absorption, continued blood loss
76
What are the two parenteral iron options?
```
Iron sucrose (venofer) given IVP over 2-5 mins OR
Sodium ferric gluconate (Ferrlicit) given IV over 30 mins
```
77
When should a patient with Fe deficiency be referred?
Not necessary unless the etiology is not clear or pts if refractory to treatment
78
Anemia of chronic disease-problem with what?
Problem with iron utilization and bone marrow unable to respond to EPO
79
Anemia of chronic disease is seen with what?
Chronic inflammation, endocrine disorders and infection
80
What are some examples of chronic diseases causing anemia?
Chronic liver, connective tissue disorders (SLE, RA), AI, hypothyroid, hypopituitarism, hyperparathyroidism, hyperthyroidism, endocarditis, viral, bacterial, parasitic, fungal infections, cancers (liquid and solid tumors)
81
What is anemic of chronic disease NOT seen in?
DM, COPD, CHF, or HTN
82
Chronic diseases produce massive amounts of what?
Inflammatory cytokines-IL-6 which stimulate hepatocytes to make massive amounts of hepcidin
83
What does the massive amounts of hepcidin do?
Prevents the release of iron from macrophages and liver stores (AKA access to iron is obstructed)
84
“You cant make chocolate chip cookies without chocolate chips”
Anemia of chronic disease: no iron because its stuck in storage
85
How is anemic of chronic disease different than anemia of CKD?
The underlying pathology impairs the kidneys to produce adequate EPO in CKD anemia
86
What are some lab results for chronic disease anemia?
CBC: normo, low reticulocyte count (low EPO levels), low production, normal or elevated serum ferritin
87
What will the iron studies show for anemia of chronic disease?
Decrease serum iron, decreased or normal TIBC with low saturation, FERRITIN IS UP OR NORMAL
88
What other lab levels can be elevated in anemia of chronic disease?
Increased ESR or CRP
89
How do you treat anemia of chronic disease?
Treat underlying condition, once treat the cause of inflammation, then anemia will resolve
90
What is EPO
CSF: coronary stimulating factor and ESF: erythropoiesis stimulating factor, stimulate production of RBCs
91
What is needed before starting EPO therapy?
Get baseline Hct/Hgb, baseline iron studies, ongoing lab monitoring important, educate pt on side effects, dont use in cancer pts if transplant candidate
92
Initiate EPO if Hgb is what?
<10 g/dL
93
Resolution of stabilization of anemia can be seen with EPO therapy is Hgb is what?
>12g/dL or there is a resolution of symptoms
94
What are the side effects of EPO?
BBW for pts with renal disease, HTN, edema, HA, SOB, stroke or TIA, N/V, arthralgia, myalgia, pruritis/rash, pain at injection site
95
What is a heterogeneous group of disorders associated with decreased or absent synthesis of alpha and beta globin chains?
Thalassemia
96
Severe thalassemia is when the disease occurs when?
Early in life
97
Thalassemia is often confused with what?
Iron deficiency anemia because of decreased MCV
98
What can be helpful in evaluation of thalassemia?
Hemoglobin electrophoresis
99
Severity of thalassemia is dependent upon what?
The number of genes with mutations
100
Alpha thalassemia is primarily due to gene what?
Deletions (16) causing reduced alpha globin chain synthesis
101
Beta thalassemia is usually caused by what?
Point mutations rather than deletions
102
Defective globin chains in beta-thalassemia causes what?
Decreased normal Hb production as well as relative excess alpha chains
103
What type of thalassemia is usually seen in people form southeast Asian and china?
Alpha thalassemia
104
How many copies of the alpha globin chain is considered normal?
4
105
If someone with alpha thalassemia only has 3 copies of the alpha globin chain...
They are considered a silent carrier
106
If someone with alpha thalassemia only has 2 copies then what?
Considered alpha thalassemia trait (aka thalassemia minor)
107
If someone with alpha thalassemia has 1 copy then what?
Called HbH disease
108
If someone with alpha thalassemia has 0 copies, then what?
Called hydros fetalis
109
What symptoms are associated with 3 alpha chains?
Make enough Hb, no symptoms
110
What symptoms are associated with 2 alpha chains?
Mild symptoms
111
What symptoms are seen with only 1 copy of the gene?
Ischemia, Target cells, Heinz bodies
112
0 alpha copies
Fatal
113
Alpha thalassemia signs and symptoms
Carriers- no symptoms, fatigue, weakness, pallor, splenomegaly
114
What labs should be drawn to test for alpha thalassemia?
CBC, CMP, smear, Ferritin, Hb Electrophoresis
115
What will be the results of the blood work for alpha thalassemia?
CBC: hypochromic, microcytic
Smear: normal to target cells and Heinz bodies
Ferritin: to rule out iron deficiency
116
What are the treatments for someone who is an alpha thalassemia carrier/trait?
No treatment, transfusions as needed, folic acid and iron supplementation
117
What are the treatments if someone has HbH disease?
Transfusions as needed, consider iron chelation for pts who might have iron overload
118
What are some other treatment options for alpha thalassemia?
Hemolytic episodes might be triggered by infection or drugs, can do splenectomy and SCT (stem cell transplant), offer genetic counseling
119
Beta thalassemia primarily affects who?
People of Mediterranean decent
120
Beta thalassemia subgroups?
Major (homozygous) and Minor (heterozygous)
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Beta (0) thalassemia mutation results in what?
Absence** of production of beta globin. Pts homozygous or doubly heterozygous cannot make normal beta chains and thus are unable to make any hemoglobin A
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Beta (+) thalassemia mutation results in what?
Decreased** production of beta globin. Pts homozygous are able to make some hemoglobin A, and are generally less severely affected than those homozygous for beta (0) genes
123
Beta thalassemia major
*No effective production* or severely limited production of beta globin
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Beta thalassemia minor
AKA beta thalassemia trait, *reduced* beta globin production
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What are the signs and symptoms for beta thalassemia minor (heterozygous)?
Most are asymptomatic, smear shows hypochromic, microcytic anemia, note target cells, dacrocytes, basophilic stippling
126
What can be seen on smear for beta-thalassemia minor?
Hypochromic, microcytic anemia, target cells, dacrocytes, basophilic stippling
127
What are the signs and symptoms for beta-thalassemia major?
Pallor, irritability, growth retardation, abdominal swelling
128
What will the smear show for beta-thalassemia major?
Poikilocytosis, hypochromic, microcytic, target cells, basophilic stippling
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What labs should be drawn for beta-thalassemia?
CBC, RDW, CMP, Ferritin, Hb Electrophoresis
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What will the results show for beta-thalassemia major?
CBC: microcytic hypochromic cells, target cells, dacrocytes, basophilic stippling, poikilocytosis
Ferritin: usually normal
131
What is the treatment for beta-thalassemia major?
Transfusions as needed, chelation if iron overloaded, splenectomy, SCT, supplemental folic acid, genetic counseling
132
When are transfusions needed for beta-thalassemia major?
Most required ruing periods of rapid growth, pregnancy, growth spurts, and infection
133
Bone marrow makes ringed sideroblasts in what?
Sideroblastic anemia
134
What is seen in a workup for sideroblastic anemia?
Elevated iron, ferritin, and RDW, hypochromic RBCs, iron overload
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Sideroblastic anemia is associated with what?
Cu deficiency
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What drugs can cause sideroblastic anemia?
Chloramphenicol, Linezolid
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The body has plenty of iron but cannot incorporate it into hemoglobin in what?
Sideroblastic anemia
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What are some signs and symptoms of sideroblastic anemia?
Pale, fatigue, dizziness, hepatosplenomegaly
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What labs should be done for siderobalstic anemia?
CBC, CMP, iron studies, peripheral smear, lead level, copper level
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What will the lab results show for sideroblastic anemia?
CBC: microcytic, hypochromic RBCs
CMP: liver and kidney abnorms due to iron overload
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What will iron studies show for sideroblastic anemia?
Increased serum iron, **decreased TIBC**
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What will a peripheral smear show for sideroblastic anemia?
Abnormal cell shapes, basophilic stippling, target cells, Pappenheimer bodies
143
What is the treatment for sideroblastic anemia?
Transfuse as needed, chelate as needed, replete copper, does NOT respond to EPO because the bone marrow is making abnormal RBCs
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In INH induced sideroblastic anemia, the treatment is what?
B6 depletion
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In severe cases of sideroblastic anemia, the treatment is what?
Bone marrow transplant
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Hemolytic anemias main facts
Normocytic in size, color seems to be normal, no longer a production issue! Its full on destruction
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Anemia = ?
Decrease in RBCs or RBCs dont have enough hemoglobin
148
Hemolytic anemia is caused by what?
High rate of cell destruction, not a production problem
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The treatment for hemolytic anemia depends on what?
Severity of disease and whether inherited or acquired
150
What is the classification for hemolytic anemia?
Intrinsic: defect intrinsic to RBC
Extrinsic: External factors causing anemia
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What types of defects can cause inherited intrinsic hemolytic anemia?
Membrane defects, enzyme defects, and hemoglobinopathies
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What type of membrane defects can cause hemolytic anemia?
Hereditary spherocytosis, hereditary elliptocytosis
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What enzyme defect can cause hemolytic anemia?
G6PD deficiency
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What types of hemoglobinopathies can cause hemolytic anemia?
Sickle cell syndrome, thalassemia
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What can cause acquired and extrinsic hemolytic anemia?
Immune, miroangiopathic, infections, hypersplenism, and burns
156
Microangiopathic causes for hemolytic anemia
TTP, HUS, DIC, valve hemolysis
157
What types of infections can cause hemolytic anemia?
Plasmodium, Clostridium, Borrelia
158
What are the main subtypes of hemolytic anemia?
Hereditary spherocytosis, G6PD deficiency, paroxysmal nocturnal hemoglobinuria, autoimmune hemolytic anemia, sick cell disease
159
What are the signs and symptoms fo hemolytic anemia?
Varies based on underlying condition
Fatigue, weakness, pallor, easy bruising, thrombus, petechiae and purpura, yellow discoloration of skin/eyes, abdominal pain, dark urine
160
What are some physical exam findings for hemolytic anemia?
Pallor, jaundice, sclera icterus, dark/discolored urine, splenomegaly, petechiae, purpura, ecchymosis, abdominal tenderness
161
Bilirubin is a breakdown of what portion of RBC?
Heme portion
162
What are the types of bilirubin?
Total bilirubin, indirect bilirubin (unconjugated), direct bilirubin (conjugated), urobiliongen
163
What are some lab studies common to all hemolytic anemia?
Elevated reticulocytosis with stable or falling hemoglobin, *decreased haptoglobin* positive urine hemosiderin, increased indirect bilirubin, *increased total bilirubin* *increased serum LDH* increased methemalbuminemia, increased hemoglobinemia
164
What are some other lab studies to be drawn?
Direct and indirect Coombs test, hemoglobin Electrophoresis, Heinz body stain, osmotic fragility, peripheral smear, flow cytometry, cold agglutin titer, bone marrow biopsy
165
Crystallizing hemoglobin is found in what?
Sick cell disease
166
What are Heinz body formations seen in?
Unstable hemoglobin variants, G6PD, enzyme defect
167
What can sphereocytes be seen in?
HS, result of spleen or partial phagocytosis when part of membrane removed
168
What is the treatment for membranopathies?
Splenectomy in some moderate and most severe cases
169
What is used to diagnose membranopathies?
Spherocytes, family history, negative DAT
170
What is the treatment for enzymopathies?
Withdrawal of offending drug, treatment of infection
171
How can you diagnose enzymopathies?
Low G6PD activity measurement
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What is the treatment for hemoglobinopathies?
Folate, transfusions
173
How do you diagnose hemoglobinopathies?
Hemoglobin Electrophoresis, genetic studies
174
How do you treat immune-mediated hemolytic anemia?
Treat underlying disorder, removal of offending drug: steroids, splenectomy, IV gamma globulin, plasmapheresis, cytotoxic agents, or Danocrine, avoidance of cold
175
How do you diagnose immune-mediated hemolytic anemia?
Spherocytes and positive DAT
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What is the treatment for microangiopathic hemolytic anemia?
Treatment of underlying disorder
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How do you diagnose microangiopathic hemolytic anemia?
Schistocytes
178
Normal RBCs are what shape?
Biconcave shaped disc with membrane built to last 120 days
179
RBCs travel through where?
Capillaries and spleen so need a flexible and formidable membrane
180
What are the 2 proteins that the RBC membrane is made out of?
Spectrin and Actin they are the scaffolding of the membrane
181
In hereditary spherocytosis, what is abnormal?
Spectrin and Ankyrin are ABNORMAL
182
What is the result of abnormal spectrin and ankyrin in spherocytosis?
Small, hyperchromic, inflexible cells that cant navigate through the spleen
183
The spleen notices that the RBCs cant fit through and what occurs?
Hemolysis
184
What are the key findings for hereditary spherocytosis?
Family hx, splenomegaly, spherocytes and retics on smear, hyperchromic
185
What is the most common hemolytic anemia due to cell membrane defect?
Hereditary spherocytosis
186
The diagnosis for hereditary spherocytosis is often based on what?
Clinical grounds
187
What can diagnose hereditary spherocytosis?
Spherocytes on smear, familiar hemolytic anemia, abnormal osmotic fragility test or other screening test, Coombs negative
188
What is the treatment for hereditary spherocytosis?
Supportive- transfusions as needed. Folic acid supplementation
189
What can be considered for hereditary spherocytosis if severe?
Splenectomy, but it will not cure the disease just removes the site of hemolysis
190
What is PNH?
Paroxysmal nocturnal hemoglobinuria
191
Rare colonial hematopoietic stem cell disorder
PNH
192
Abnormal sensitivity of RBC membranes to lysis by compliment?
PNH
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What is deficient in PNH?
Compliment regulating proteins CD55 and CD59
194
CD55 and CD59 deficits permits what?
Unregulated formation of complement membrane attack complex on RBC membranes and intravascular hemolysis
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Patients with significant PNH live how long?
10-15 years, thrombosis primary cause of death
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PNH is mostly a disease of who?
Adults, although childhood causes have been reported
197
What are some signs and symptoms for PNH?
Episodic hemoglobinuria, symptoms of anemia: fatigue, weakness, varies with severity, esophageal spasms, ED, abdominal pain, dyspnea, thrombosis, pulmonary HTN, end organ damage, CKD
198
What is episodic hemoglobinuria?
Reddish brown urine, often first morning urine. Not actually bloody but hemoglobin in urine
199
Where does thrombosis take place in PNH?
Mesenteric vein, hepatic veins, central nervous system veins, skin vessels (formation of painful nodules)
200
Variation in severity of hemoglobinuria within hours in unique to what condition?
PNH
201
What is key to diagnose PNH?
Flow cytometry is key: CD55 cells
202
What else is used to diagnose PNH?
CBC, reticulocytosis, direct Coombs: negative, urine hemosiderin, serum LD, iron deficiency common, bone marrow
203
Bone marrow for PNH
Variable morphology hypoplasia or erythropoiesis hyperplasia or both; bone marrow karoyotype may be normal or demonstrate a colonial abnormality
204
Lab results for PNH
CBC: variable anemia, leukocytosis, thrombocytopenia
Reticulocytosis: variable
Peripheral smear: nondiagnostic, macroovalocytes and polychormasia
Direct Coombs: negative*
Urine hemosiderin: elevated
Serum LD: elevated
Iron deficiency common
205
PNH diagnosis key
Flow cytometry of granulocytes deficiency of CD55 and CD59*
206
FLAER assay
Fluorescein labeled proaerolysin by flow cytometry, more sensitive for PNH
207
Essentials of diagnosis for PNH
Episodic hemoglobinuria, thrombosis, suspect in confusing cases of hemolytic anemia or pancytopenia, flow cytometry results with CD55 and CD59 deficiency
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How do you treat severe PNH with hemolysis or thrombosis?
Transfusions as needed, Eculizumab** Therapy, corticosteroids, allergenic stem cell transplant
209
What are some other treatments of PNH?
Iron deficiency if indicated, should be under care of hematologist
210
Eculizumab therapy mechanism?
Monoclonal antibody against compliment protein C5 preventing membrane attack complex
Improved quality of life
211
What are the pros to Eculizumab therapy for PNH?
Improved quality of life, reduced hemolysis, transfusion requirement, and thrombosis
212
G6PD deficiency patho
Hereditary enzyme defect, extravascular hemolysis (spleen), episodic hemolytic anemia
213
G6PD deficiency
Protection from malaria, less coronary artery disease, possibly fewer cancers, greater longevity
214
What is the inheritance for G6PD deficiency?
X-linked disorder, affected 10-15% American black males hemizygous, female carriers rarely affected
215
Numerous ___ isoenzymes have been described
G6PD, >150
216
American black population has what G6PD variant?
G6PD-A, have normal function
217
White population has what G6PD variant?
G6PD-B, have normal function
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10-15% of American black population has what G6PD variant?
G6PD-A-, reduction in normal enzyme activity and reduction stability
219
The normal enzyme activity declines rapidly after RBC> ?
RBC> 40days
220
Mediterranean, Ashkenazi Jewish and Asian variants
Extremely low enzyme activity (class 2)
221
When should you expect G6PD?
An episode of onion-immune hemolytic anemia, especially if occurring after drug ingestion, exposure to fava beans, or associated with an infection
222
Signs and symptoms of G6PD deficiency
Patients are generally healthy and without splenomegaly
223
During an episode of hemolysis, what are the lab findings for G6PD?
Hgb >8g/dL, increased: reticulocyte count, serum indirect bilirubin
Peripheral smear: “bite cells” “blister” Heinz bodies-special stain, decreased G6PD enzyme assay
224
What do the labs look like between hemolytic episodes in G6PD?
Normal
225
X-linked recessive disorder seen commonly in African American men?
G6PD Deficiency
226
Bite cells and blister cells on peripheral blood smear?
G6PD Deficiency
227
Reduced levels of G6PD between hemolytic episodes
G6PD Deficiency
228
What should be avoided if you have G6PD deficiency?
Avoid known oxidant drugs, pregnant/nursing who are heterozygous should avoid drugs with oxidant potential, avoid fava beans
229
What is a treatment option for G6PD deficiency?
Transfusion if severe episode of hemolysis or symptomatic anemia
230
What are the 3 most common drugs to avoid if you have G6PD?
Dapsone, Nitrofurantoin, Sulfa drugs
231
What are some other drugs to avoid with G6PD?
Methylene blue, Rasburicase, Phenazopyridine, Primaquine, Tolonium chloride, Henna compounds
232
Patho behind autoimmune hemolytic anemia
Autoantibodies IgG bind to RBC membrane at room temperature, can be seen in SLE, CLL, or lymphomas
233
What is the presentation for autoimmune hemolytic anemia?
Fatigue, dyspnea, angina pictorial, possible heart failure, jaundice, splenomegaly
234
Laboratory findings for autoimmune hemolytic anemia
Increased reticulocyte, + Direct Coombs, +/- Indirect Coombs, decreased haptoglobin, increased indirect bilirubin
235
What will be seen on peripheral smear for autoimmune hemolytic anemia?
Spherocytes, NRBCs
236
What are the essentials for diagnosis of autoimmune hemolytic anemia?
Acquired anemia caused by IgG autoantibody, spherocytes and reticulocytosis on peripheral smear, + Coombs test
237
What two types of anemia both have spherocytes and reticulocytosis?
Autoimmune hemolytic anemia and Hereditary spherocytosis
238
What is the main difference between AIHA and hereditary spherocytosis?
Coombs + in AIHA
239
What is the treatment for AIHA?
Prednisone, transfusion-may be difficult to crossmatch, splenectomy, therapeutic plasma pheresis
240
When should you refer to hematologist for pts with AIHA?
All patients
241
When should you admit someone with AIHA?
If symptomatic anemia or rapidly falling hemoglobin
242
What is hemolytic anemia due to IgM antibodies?
Cold Agglutinin disease
243
Coombs test + and IgM antibodies is what?
Cold Agglutinin Disease
244
What can cold Agglutinin disease occur with?
Waldenstrom macroglobulinemia, lymphoma, or CLL or post mycoplasma pneumoniae or certain viral illnesses
245
What is the clinical presentation for cold Agglutinin disease?
Symptoms related to RBC agglutination on exposure to cold, mottle or numb fingers, toes, ears, acrocyanosis, episodic low back pain, dark colored urine, hemoglobinuria on exposure to cold
246
What are the essentials for diagnosis of cold Agglutinin disease?
Increased reticulocytes on blood smear, Coombs + for compliment only, - for antibodies, + cold Agglutinin titer
247
What is the treatment for cold Agglutinin disease?
Avoid exposure to cold, Rituximab or immunosuppressive therapy, if transfusion use in-line blood warmer
248
What is an autosomal recessive disorder with abnormal hemoglobin, chronic hemolytic anemia and effects people of Africa can descent?
Sickle cell disease
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HbS gene for sickle cell is carried by how many American blacks?
8%
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Hemoglobin S (HbS)
Substitution of a Valine for a Glutamic acid as the 6th amino acid of the beta-globin chain
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HbS
Tetramer that is poorly soluble when deoxygenated
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Genotype AA will have what?
Normal diagnosis, no sickle cell
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Genotype AS will have what?
Sickle cell trait
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Genotype SS will have what?
Sickle cell anemia
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When is the onset of sickle cell disease?
During first year of life when HbF declines and production switches from gamma globulin to beta globulin
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“Sickling”
HbS is unstable, it changes shape with deoxygenation and undergo hemolysis, can occlude microcirculation
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RBC lifespan in sickle cell is what?
10-20 days
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What can cause a sickle cell disease crisis?
Infection, hypoxia, dehydration, acidosis, physical/physiological stress, extreme exercise, ETOH, pregnancy, cold weather
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What are some signs and symptoms for sickle cell disease?
Anemia, jaundice, pigment gallstones, splenomegaly, poor healing ulcers over lower legs, life threatening severe anemia, pain over long bones or back, chest pain, stroke, priapism, retinopathy, systemic (heart, lungs, liver) occlusion
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What are the 3 types of sickle cell disease crises?
1. Vaso-occlusive crisis
2. Hematologic crisis
3. Infections
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Vaso-occlusive crisis
MSCK pain, dactylitis (hand-foot syndrome), acute chest pain syndrome, stroke, priapism
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Hematologic crisis
Splenic sequestration, aplastic crisis, hemolytic crisis
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Infections causing sickle cell crisis
Pneumonia, meningitis, sepsis, osteomyelitis, UTIs/renal infections
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Exam findings for sickle cell anemia
Chronically ill, jaundiced, hepatomegaly, spleen not palpable, cardiomegaly, hyperdynamic precordium and systolic murmurs, non-healing ulcers, retinopathy
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What are some complications for sickle cell disease?
Retinopathy, pulmonary HTN, delayed puberty, infections related to hyposplenism, bone necrosis, cardiomegaly, cholelithiasis
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What will a CBC show for sickle cell anemia?
Degree of anemia will vary; Hct usually 20-30%, WBC and platelets can be elevated
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What will the blood smear show for sickle cell anemia?
*irreversibly sickle cells* reticulocytosis, Howell-Jolly bodies and target cells
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What other lab tests must be drawn for sickle cell anemia?
Hemoglobin S screening test, *hemoglobin electrophoresis* chemistries demonstrate hemolysis, increased indirect bilirubin
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What are the essentials of diagnosis for sickle cell anemia?
Recurrent pain episodes, + family hx and lifelong hx of hemolytic anemia, irreversibly sickle cells on smear, hemoglobin S* seen on Electrophoresis
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What is the supportive treatment for sickle cell anemia?
Folic acid 1mg PO daily, pneumococcal vaccine, avoid known precipitating factors
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What is the treatment for an acute sickle cell crisis?
*generous analgesia for pain* transfusions for aplastic or hemolytic crisis, identify precipitating factors, keep well hydrated, oxygen, Abx, VTE prophylaxis, transfusion if needed
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What are some long term therapies for sickle cell anemia?
Long term transfusion therapy to reduce recurrent stroke in kids, disease modulators, allergenic hematopoietic stem cell transplants
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What disease modulators can be used for sickle cell anemia?
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Cytotoxic agents (Hydroxyurea) increases hemoglobin F levels
Omega-3 fatty acid supplementation
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Who can get allergenic hematopoietic stem cell transplants?
Kids with suitable HLA-matched donor, investigational in adults
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AS genotype
Heterozygous, hematologically normal, screening will be +, hemoglobin electrophoresis will show 40% HgbS
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What are the clinical risks if you have the sickle cell trait?
Risk of sudden cardiac death and rhabdo with vigorous exercise, especially at high altitudes, increased risk of VTE, microscope and gross hematuria, hyposthenuria, possible CKD
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When should you refer someone with sickle cell?
All should be referred to hematology and a comprehensive sickle cell center
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What are the benefits of sickle cell anemia?
Resistance to malaria: sickle cells have shorter survival, eliminated in spleen as well as parasite
Membrane is porous and leaks nutrients like K which is needed for parasite
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What are the 4 types of Microcytic anemia?
1. Iron deficient
2. Thalassemia
3. Sideroblastic anemia
4. Anemia of chronic disease
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What is the MCV for microcytic anemia?
<80fL
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What are the 4 types of normocytic anemias?
1. Anemia of chronic disease
2. Aplastic anemia
3. Acute blood loss
4. Most hemolytic anemia
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What is the MCV for normocytic anemia?
80-100fL
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What are the subtypes of macrocytic anemia?
1. Megaloblastic
| 2. Macrocytic
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What are the 2 types of megaloblastic macrocytic anemia?
1. Vit b12 deficiency
| 2. Folic acid deficiency anemia
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What are the 3 types of macrocytic anemia?
1. Reticulocytosis
2. Liver disease
3. Alcoholism
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What is the MCV for macrocytic anemia?
>100fL
