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12 Cards in this Set
- Front
- Back
Hereditary spherocytosis:
4 loci? What happens to RBC's? Treatment? Oval cells, spectrin mutation: |
Loci - mutated spectrin, ankyrin, band 3, protein 4.2
RBC's - increased osmotic fragility, MCHC Tx - splenectomy hereditary elliptocytosis |
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Enzyme defects cause what? What type of cells do you see?
What are some drug and food causes of G-6-PD? Autosomal recessive, seen in Amish, defective Na+ pump, bad membranes: |
oxidative damage to RBC's
bite cells - G6PD - Heinz bodies fava beans, sulfa, nitrofurantoin, ASA, anti-malarials pyruvate kinase deficiency |
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Sickle Cell Disease:
mutation? Why don't you see S/S until after age 2? Why are heterozygotes usually OK? Vulnerable to what infections? leading COD? SCD sufferers are protected against what disease? |
Glut-6-Val mutation
Hgb F protects against SCD Hgb A protects against SCD pneumococcus, Salmonella osteomyelitis acute chest syndrome malaria |
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Hgb C disease - what type of cells do you see?
Hgb SC - what type of cells? Seen in SE Asia, Glut-26-Lys, you see mild hemolysis: |
Hgb C - target cells
Hgb SC - "birds in flight" cells Hgb E |
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Thalassemias:
What type of anemias? Where is A-thal usually seen? How many genes? Homozygous A-thal in fetuses usually results in what? Where is B-thal usually found in the world? How many genes? |
microcytic anemias
A-thal - Asia, Africa - 4 genes homozygous - hydrops fetalis B-thal - Mediterranean region - 2 genes |
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Increased sensitivity to complement-mediated lysis - also affects myeloid, megakaryocytes:
Autoimmune hemolytic anemia: Warm: which IG? What are some drugs that cause it? Cold: eponym for AB's seen? Which IG? |
PNH - paroxysmal nocturnal hemoglobinemia
Warm - IGG - PCN (haptens), quinidine (immune complex), Aldomet (auto-Ab's) Cold - Donath-Landsteiner Abs - IGM |
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What are some causes of traumatic/mechanical hemolytic anemia? What types of cells do you see?
Megaloblastic anemia causes what type of anemia? How are the neuts and RBC's affected? |
"march hemolysis", marathon runners
prosthetic valves, DIC, TTP, malignant HTN see fragmented RBC's - schistocytes, helmet cells, triangle cells normochromic, macrocytic (increased MCV); hypersegmented neuts, decreased RBC survival time |
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Two major causes of pernicious anemia? What are some symptoms?
Causes of B12 deficiency? Folic acid deficiency? |
decreased B12, folic acid - decreased RBC's, CNS changes, PC demyelination
B12 - diets, vegans, sprue, Whipple's, gastric bypass, fish tapeworms, Crohn's Folic acid - pregnancy, phenytoin, birth control |
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When do you see pencil cells?
What carries Fe2+ in the blood? Iron deficiency is what until proven otherwise? Chronic insufficiency of iron has what effect on serum Fe, Fe-binding capacity, ferritin? |
Iron deficiency
Transferrin malignancy normal serum Fe, ferritin, decreased binding capacity |
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What is the pathology in chronic inflammation anemia? What type of anemia? Causes?
Hepcidin's effect on iron release? What is sideroblastic anemia? Causes? |
iron OK, but not available to RBC's
microcytic/hypochromic TB, RA, osteomyelitis, severe bedsores hepicidin - decreases iron release sideroblastic - iron OK, in normoblasts, not in heme rings EtOH use, INH therapy |
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Syndrome where normoblasts apoptose too early, involves a ribosomal mutation:
Erythrocyte precursor apoptosis, defective DNA repair, increased risk of cancers: |
Blackfan-Diamond syndrome
Fanconi anemias |
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Two causes of basophilic stippling?
When do you see acanthocytes? |
B-thal minor, Lead poisoning
decreased/abnormal fat absorption |