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12 Cards in this Set

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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
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
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
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
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
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
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
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
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
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
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
Two causes of basophilic stippling?

When do you see acanthocytes?
B-thal minor, Lead poisoning

decreased/abnormal fat absorption