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6 Cards in this Set
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what are 2 general types of mutations we see in Hb?
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Qualitative - Hb varrients
Quantitative - Basically no Hb is produced. |
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What are potential functional properties of hemoglobin variants?
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Increased O2 affinity
Decreased O2 affinity Creation of Unstable Variants Methemoglobinemia - where Fe2+ is oxidized to Fe3+. |
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What is the result of Beta + Thalassemia?
What is the result of Beta naught Thalassemia? |
Beta + - decreased production of beta globin chains from the affected gene
Beta naught - absence of beta chain production completely. |
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what happens when you have heterozygosity for B naught or B plus gene?
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-clinically asymptomatic
-mild anemia in some cases -have elevated HbA2, -have elevated HbF (1 to 5%) |
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what are the problems that arise when the pt is a homozygote for B naught or B plus
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-dependent on blood transfusions
-hepatosplenomegaly, growth retardation, delayed puberty, bony abnormalities, -iron overload (i think caused by lots of blood transfusion) -> get bone marrow expansion and increaseed iron absorbtion in the gut. |
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what happens in sickle cell anemia? what is the change?
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the beta chain of the hemoglobin contains a valine rahter than a glutamate at position 6. this replaces an amino acid with a negative charge.
this allows the deoxygenated molecules of HbS to polymerize and can thus assume the sickle shape. these cells undergo hemolysis and an anemia results. |