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88 Cards in this Set
- Front
- Back
Most common red cell disorder of persons of Northern European descent?
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Hereditary Spherocytosis
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Inheritance of hereditary spherocytosis?
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AD
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Most common gene involved in hereditary spherocytosis?
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Ankyrin
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Second most common gene involved by hereditary spherocytosis?
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Band 3
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Most characteristic CBC anomaly of hereditary spherocytosis?
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Increased MCHC
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Differential diagnosis of spherocytes in the peripheral blood?
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Immune mediated hemolysis and hereditary spherocytosis
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Inheritance and mutation of Hereditary Elliptocytosis
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AD, Spectrin alpha
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Diagnostic criteria for hereditary elliptocytosis?
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At least 25% of circulating cells
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What is a variant of elliptocytosis that has an unusual sensitivity to heat?
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Hereditary pyropoikolocytosis
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Common type of elliptocytosis in Malaysia and defect?
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Stomatocytic type, band 3 defect
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The stomatocytic variant of elliptocytosis confers what advantage?
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Protection against P. vivax malaria
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Stomatocytosis is a feature of what blood group?
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Rh Null
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What happens when Hb becomes oxidized?
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It produces heinz bodies
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Examples of sources that cause oxidant stress in G6PD?
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Sulfa drugs, methylene blue, fava beans
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How do you stain a heinz body?
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Supravital dyes such as methyl violet, crystal violet, or brilliant cresyl blue
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What protection does G6PD confer
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Protection against Plasmodium falciparumX linked disorder
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Inheritance of G6PD?
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X linked
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What test can you do for G6PD?
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Fluorescent spot test
Incubate RBCs with NADP and G6P and measure the production of NADPH which fluoresces |
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Inheritance of pyruvate kinase deficiency?
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Autosomal recessive
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Which populations have a high frequency of pyruvate kinase deficiency?
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Pennsylvania Amish and Northern Europe
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What are classic on a smear of PK deficiency?
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Echinocytes
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What test can you use for PK deficiency and how does it work?
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Fluorescent Spot Test.
RBCs are incubated with NADH (340nm) to check for conversion to NAD. |
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What enzyme is responsible for degredation of RNA that is present within the reticulocyte?
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Pyrimidine 5' nucleotidase
If you don't have it you get basophilic stippling Lead inhibits this enzyme |
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Hemoglobin A composition?
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2 alpha and 2 beta chains
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Alpha chains are on what chromosome?
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16
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Beta chains are on what chromosome?
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11
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Hemoglobin F composition
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Alpha 2 Gamma2
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Hemoglobin S pathophysiology?
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the S allele has a valine in place of a glutamate at position 6 of the hemoglobin Beta chain
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Average lifespan of RBCs in SS disease?
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17 days
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How much HbA in HbSS?
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0%
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Sickle cell trait confers protection against?
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P. falciparum
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How does HbS levels change with S-alpha thal?
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With more alpha globin gene deletions, less HbS
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How does HbS change when coinherited with beta thal?
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It increases
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HgbCC on electrophoresis?
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90% HgB C, 7% Hgb F, 3% HgbA2, 0% HbA
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What is the second most common abnormal hemoglobin after Hgb S?
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Hgb E
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Where does E run with on conventional electrophoresis?
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It always runs with A2
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Where do Hgb D and G run on electrophoresis?
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With S on alkaline
With A on citrate |
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Where does Hb lepore run on alkaline gel?
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With S
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Pathogenesis of hgb constant spring?
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Mutation in alpha globin gene stop codon, producing an abnormally long transcript that is unstable.
Thalassemic type RBC indices |
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How do you screen for unstable hemoglobins?
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Incubating lysed RBCs with 17% isopropanol which causes precipitation
Examples: Koln, Seattle, Tacoma... |
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How do you treat methhemoglobinemia?
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Methylene blue
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Levels of CO in:
Non Smoker Smoker Mild Symptoms Severe Symptoms Coma and Death |
0.4-2%
2-6% 10-20% 20-50% >50% |
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Instrument to measure CO?
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cooximeter
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CBC findings of typical thalassemia?
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Elevated RBC count
Reduced MCV Low HcT RDW normal to slightly increased MCV/RBC ratio <13 |
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HbH composition?
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Beta Tetramers
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T/F - HbH patients are transfusion dependent
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False. Usually not dependent
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Lab findings in Beta thal minor?
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Elevated HbA2, Normal HbF
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Beta thal major electrophoresis?
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HbF - 50 - 90%
Norma to elevated HbA2 No HbA |
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Cause of hereditary persistence of fetal hemoglobin
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Delayed switch from gamma to beta chains
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Most common cold agglutinin
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auto Anti-I
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EBV is associated with what cold agglutinin
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anti-i
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Mycoplasma is associated with what cold agglutinin
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anti-I
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Defect in PNH?
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Lack of GPI anchors coded by PigA gene due to mutation
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Clinical presentation of PNH?
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Episodic eolysis, abdominal pain, back pain, headaches (night)
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Traditional screening tests in PNH?
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Ham and Sucrose hemolysis test
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Mainstay of diagnosis of PNH?
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Flow Cytometry for surface proteins on neutrophils monocytes and RBCs
RBC analysis - CD55 and CD59 are studied |
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Earliest finding in iron deficiency anemia?
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Decrease serum ferritin
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Last finding in iron deficiency anemia
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decreased Hgb
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TIBC, Serum Iron, Percent Transferrin in Iron deficiency anemia?
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TIBC - elevated
Serum iron and % transferrin are low |
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Where is iron absorbed?
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duodenum
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Where is folate absorbed?
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Jejunum
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Most common diseases associated with anemia of chronic disease?
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Rheumatoid arthritis, lupus, chronic infection, malignancy
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Serum Iron, TIBC, % transferrin saturation, and Ferritin in anemia of chronic disease?
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Iron normal to decreased, TIBC normal to decreased, % transferrin saturation >15%, Ferritin normal to increased
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Malignancies associated with Fanconi anemia?
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SCC, Gastric CA, and HCC
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Screening test for Fanconi Anemia?
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Based on know hypersensitivity of FA cells to DNA crosslinking agents. Cells grown in culture are expposed and leads to increased chromosomal breask, gaps, and RADIALS.
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Hematologic Sequelae of Fanconi Anemia?
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MDS or AML
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Absent thumbs or radii, renal abnormalities, elevated hgb F, short stature.... diagnosis?
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Fanconi Anemia
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Acquired pure red cell dysplasia is associated with what?
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Thymoma (type A)
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How does parvovirus gain access to erythroids?
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P antigen
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Swachman-Diamond syndrome characteristics?
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Neutropenia, pancytopenia, pancreatic dysfunction with fatty replacement, and skeletal abnormalities
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What are some mimickers of aplastic anemia?
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PNH, Hairy Cell Leukemia, T-cytotoxic LGL
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What is gaisbock syndrome?
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Spurious erythrocytosis of dehydration
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Name some EPO secreting neoplasms?
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RCC, Cerebellar hemangioblastoma, Uterine Leiomyoma, and HCC
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Pentad for hantavirus?
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Thrombocytopenia, left shifted neutrophilia, lack of toxic granulation, increased Hgb concentration and >10% of lymphocytes having immunoblastic morphology
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Common finding of hairy cell leukemia on physical exam?
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Splenomegaly
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Blood lakes are a common BM biopsy finding in what condition?
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Hairy Cell leukemia
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Immunophenotype of HCL?
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CD19, CD20, CD22, CD11c, CD25, CD103 positive
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What is the most specific hairy cell antigen?
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Annexin A1
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Favorable cytogenetics in MDS?
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Loss of Y, 5q-, and 20q-
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Most common fusion product of CML?
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p210
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p230 in CML is associated with what?
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Marked thrombocytosis and mature leukemic neutrophils
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p190 fusion protein in CML is associated with?
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Marked monocytosis
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Mechanisms of Imatinib resistance?
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Tyrosine kinase domain mtations, MDR-1 (p-glycoprotein) overexpression
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Major criteria for Pvera?
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Hgb >18.5 for men, >16.5 for women, or increased RBC mass
Jak2 or similar mutation |
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Minor criteria for Pvera?
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Bone marrow panmyelosis, endogenous erythrooid colony formation in vitro, normal serum EPO
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AML with good prognosis?
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Inv 16 or t(16;16)
t(8;21) t(15;17) |
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Morphologic features of Inv 16 AML?
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Myelomonocytic differentiation with abnormal eospinophils
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The atypical eos in inv 16 AML stain with?
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Alpha napthyl acetate esterase
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