normalandabnormalhem

Question 1

what binds O2 at low concentrations and what at high concentrations

Answer 1

myoglobin at low concentrations but hemoglobin at high concentrations.

Question 2

what is the most common subtype of hemoglobin

Answer 2

Hb A [A2B2]

Question 3

what are the embryonic hemoglobin

Answer 3

Hb Gower 1 znen Gower 2 A2 E2 portland Z2 Y2

Question 4

what replaces Embryonic heme to become the fetal heme

Answer 4

Hb F a2y2

Question 5

what changes during progressive development of the fetus in the heme groups

Answer 5

the Y chain becomes a B beta chain less than 2% by the end of the first year of life

Question 6

what is the amino acid difference between an beta chain and a y chain

Answer 6

histadine is replaced with serine

Question 7

what are the alpha like globins and where are they found on the chromosomes

Answer 7

alpha and zeta and found on 16

Question 8

where are the beta like globlins found and what are they

Answer 8

11 and they are beta Gamma epsilon and delta found upstream.

Question 9

what regions of DNA turn on hemoglobin genes

Answer 9

HS-40 turns on alpha like, and LCD upstream of Beta like globins.

Question 10

what are structural variants

Answer 10

mutations that produce unstable hemoglobin often form hemichorm and precipitate as heinz bodies

Question 11

what are thalassemias

Answer 11

imbalanced globin chain synthesis too many of either alpha types or beta types.

Question 12

what is Hb helsinki

Answer 12

lys to met at BPG increased affinity for o2

Question 13

what happends with a beta thalassemias

Answer 13

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

Question 14

what barts hydrops fetalis

Answer 14

can only form fetsus gamma tetramers so no adult alpha globins and is deadly

Question 15

what is Hb constant spring

Answer 15

stop codon to gluatamine leads to a longer chain and this makes the chain unstable behaves like a d alpha +

Question 16

what is Hb kansas

Answer 16

asn to thr at A1B2 contact site leads to a decreased o2 affinity

Question 17

what is Hb boston

Answer 17

a subunit distal his to tyr leads to methemoglobin, and

Question 18

what is Hb hyde park

Answer 18

Beta subunit proxiaml his to tyr leads to methemoglobin

Question 19

what is sickle cell

Answer 19

glutamate to valine at position 6 leads to a beta globin chain deoxygenated Hb s changes shapes hemolytic anemia

Question 20

what is Hb C

Answer 20

west african origin glutamate for lysine less solubel preipicats common with Hb S but not as bad as a homozygot Hbs

Question 21

what is hydroyurea

Answer 21

antineoplastic agetn used to treat sickle cell by increasing production of Hb F

Question 22

tell me about electrophoretic testing techniques

Answer 22

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

Question 23

tell me about PCR-RFLP

Answer 23

cheap easy very specific you need to know exactly what you are looking for so not good for weeding out but for specifically identifying.