normalandabnormalhem Flashcards
what binds O2 at low concentrations and what at high concentrations
myoglobin at low concentrations but hemoglobin at high concentrations.
what is the most common subtype of hemoglobin
Hb A [A2B2]
what are the embryonic hemoglobin
Hb Gower 1 znen Gower 2 A2 E2 portland Z2 Y2
what replaces Embryonic heme to become the fetal heme
Hb F a2y2
what changes during progressive development of the fetus in the heme groups
the Y chain becomes a B beta chain less than 2% by the end of the first year of life
what is the amino acid difference between an beta chain and a y chain
histadine is replaced with serine
what are the alpha like globins and where are they found on the chromosomes
alpha and zeta and found on 16
where are the beta like globlins found and what are they
11 and they are beta Gamma epsilon and delta found upstream.
what regions of DNA turn on hemoglobin genes
HS-40 turns on alpha like, and LCD upstream of Beta like globins.
what are structural variants
mutations that produce unstable hemoglobin often form hemichorm and precipitate as heinz bodies
what are thalassemias
imbalanced globin chain synthesis too many of either alpha types or beta types.
what is Hb helsinki
lys to met at BPG increased affinity for o2
what happends with a beta thalassemias
only one gene region for the beta globin but they are usually not super effected but if they are homozygotes than its very servers leads to target cells and hypochormia
what barts hydrops fetalis
can only form fetsus gamma tetramers so no adult alpha globins and is deadly
what is Hb constant spring
stop codon to gluatamine leads to a longer chain and this makes the chain unstable behaves like a d alpha +
what is Hb kansas
asn to thr at A1B2 contact site leads to a decreased o2 affinity
what is Hb boston
a subunit distal his to tyr leads to methemoglobin, and
what is Hb hyde park
Beta subunit proxiaml his to tyr leads to methemoglobin
what is sickle cell
glutamate to valine at position 6 leads to a beta globin chain deoxygenated Hb s changes shapes hemolytic anemia
what is Hb C
west african origin glutamate for lysine less solubel preipicats common with Hb S but not as bad as a homozygot Hbs
what is hydroyurea
antineoplastic agetn used to treat sickle cell by increasing production of Hb F
tell me about electrophoretic testing techniques
cheap easy somewhat insensitive hard with premature infants and you dont need to know what you are looking for and can run several samples at once
tell me about PCR-RFLP
cheap easy very specific you need to know exactly what you are looking for so not good for weeding out but for specifically identifying.
