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10 Cards in this Set

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  • Back
What causes the majority of hemoglobinopathies?
point mutations- single amino acid substitutions
What kind of changes can cause abnormal hemoglobins?
mutations affecting the heme binding pocket- causes methemoglobin

mutations can make hemoglobin unstable

- affect the interface btwn subunits
-can cause alterations in the mRNA processing or degradation
-affect the water solubility of hemoglobin
mutations can affect the interface btwn subunits, what does this do?
produces hemoglobins with abnormal oxygen affinities, which can lead to an increase in erythrocytes cause of lowered levels of O2
What is the defect that causes sickle cell disease?
It is a beta chain mutation, it is switch of a glutamate to a valine, and it causes the production of hemoglobin S
what type of hemoglobin is succeptible to sickling out?
only deoxyhemoglobin
Does the beta chain mutation make hemoglobin more or less water soluble?
makes it less water soluble
What does thalassemia always cause and what is it classified based on?
thalassemia always causes anemia- homozygous severe, heterozygous- mild, classified based on which gene the mutation is on
What disease would someone have if they had a hemoglobin with 10x the affinity for oxygen as Hb a?
defect in one to three of the alpha chains on the alpha chain on the chromosome 16
What would you know if someone had an unstable B4 tetramer termed hemolobin H
1) they had alpha thalassemia
2) they had lost three of the four of their alpha genes
What disease causes the production of an insoluble precipitate that aggrevates the exsisiting anemia?
B-Thalassemia- which is a mutation on the beta chain and because the beta chain is mutated it can't form as many things as the alpha chain- so this will lead to a build up of alpha chains which form an insoluble precipitate