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6 Cards in this Set

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what are 2 general types of mutations we see in Hb?
Qualitative - Hb varrients

Quantitative - Basically no Hb is produced.
What are potential functional properties of hemoglobin variants?
Increased O2 affinity
Decreased O2 affinity
Creation of Unstable Variants
Methemoglobinemia - where Fe2+ is oxidized to Fe3+.
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.
what happens when you have heterozygosity for B naught or B plus gene?
-clinically asymptomatic
-mild anemia in some cases
-have elevated HbA2,
-have elevated HbF (1 to 5%)
what are the problems that arise when the pt is a homozygote for B naught or B plus
-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.
what happens in sickle cell anemia? what is the change?
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.