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11 Cards in this Set
- Front
- Back
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HbH disease |
3 loci deleted, mild to moderate hemolytic anemia, unpaired beta chains accumulates in fetuses to form homotetramer called HbH. |
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Hydrops Fetalis with Hb Barts (y4) |
no alpha globins at all, fetal death. Total absence of alpha globin synthesis. Excess gamma globin forms tetramers called Hb barts which has very high oxygen addinity. |
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Beta Thalassemia |
.Beta globin has 2 copies on each chromoome, one is defective, also caleld Cooley Anemia. After bith- chipmunk face, hepatosplenomegaly |
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Methemogobinemia |
Fe2+ oxidized to Fe3+, which cannot bind to oxygen. Chocolaet colored stuff blood. Treatment is methylnee blue which reduces Fe3+ back to Fe2+. Oxidation may also be due to inherited defect in NADPH cytochrome reductase which is responsoble for conversion of Fe3+ to Fe2+. DUSTY METHYLENE BLUE |
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Menke's Disease |
Cu binding P Type ATPase mutation (ATP7A), less copper in serum so decrease in activity of Lysyl Oxidase, therefore defective collagen cross-linking |
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Parkinsons's disease |
Degeneration of dopaminergic nigrostrial neurons in the substantia nigra pars. Alpha Syneculin damaged, formed insoluble lewy bodies |
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Good Pasture Syndrome |
Type(IV), anrigen, immune system attacks basement membrane and glomeruli and alveoli |
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Beta Thal |
Chipmunk, tear drop, hypochromic |
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What drug leads to methhemoglobinemia |
Isocarbonate Dinitrate |
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hemoglobinC |
6th position becomes lysine |
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Hemoglobin SC |
6th position becomes valine |
