Bnl 6 Turnicky Hemoglobinopathies

Front 1

Define and give example of sturctural abnormal globin synthesis

Back 1

mutations involving a.a.deletions or substitutions

eg. sickle cell anemia

Front 2

Define and give an example of synthesis abnormalities in globin synthesis

Back 2

genetic defect that cause reduced suntehsis of structurally normal globin chains

the thalassemias

Front 3

At birth, what Hb is prominent

Back 3

Hb F alpha2; gamma2

Front 4

At six months to a year what Hb becomes the major one

Back 4

Hb A (alpha2; beta2)

Front 5

Hb A2 is made up of

Back 5

alpha2 delta 2

Front 6

HbA1c is what and formed how

Back 6

minor Hb formed by post-translational addition of glucose to the beta chain

Front 7

Hemoglobinopathies dont have clinical have clinical manifestations until...

Back 7

around 6 months, when Hb F becomes inactive

Front 8

If you are homozygous state for hemoglobinopathies, you have the disease/trait?

Back 8

DISEASE

Front 9

most common Hbpathies are mutations in the..

Back 9

globin chain
like
HbS, HbC, HbE

Front 10

whats altered solubility

Back 10

a.a. sub in molecules that makes them into insoluble, rigid aggregates of Hb resulting in hemolytic anemia

eg. HbS HbC

Front 11

altered function due to aa sub and deletions results in affecting..

Back 11

O2 stability

Front 12

scientific name for HbS

Back 12

B6 Glu >Val

Front 13

altered function due to aa sub and deletions results in affecting..

Back 13

O2 stability

Front 14

most common symptomatic hemoglobinopathy

Back 14

sickle cell

Front 15

scientific name for HbS

Back 15

B6 Glu >Val

Front 16

most common symptomatic hemoglobinopathy

Back 16

sickle cell

Front 17

formation of HbS polymers are caused by...and where does this occur

Back 17

hypoxia, acidosis, hypertonicity, temp greater than 37 C all promote deoxy

spleen, kidney, retina, BM provide this stuff

Front 18

formation of HbS polymers are caused by...and where does this occur

Back 18

hypoxia, acidosis, hypertonicity, temp greater than 37 C all promote deoxy

spleen, kidney, retina, BM provide this stuff

Front 19

sickle cells are removed by

Back 19

spleen, liver, BM

Front 20

sickle cells are removed by

Back 20

spleen, liver, BM

Front 21

HbS is increased in regions with

Back 21

plasmodium falciparum

Front 22

HbS is increased in regions with

Back 22

plasmodium falciparum

Front 23

anemia in sickle cell is a result of ____ hemolysis

Back 23

extravascular

Front 24

anemia in sickle cell is a result of ____ hemolysis

Back 24

extravascular

Front 25

What do you see clinically for HbS

Back 25

reticulocytosis, hyperbilirubinemia, irreversible sickle cells

"pain crisis" blockage of microvasculature by rigid sickle cells....pain, fever, tissue necrosis, swollen hands or feet (dactylitis)

Front 26

What do you see clinically for HbS

Back 26

reticulocytosis, hyperbilirubinemia, irreversible sickle cells

"pain crisis" blockage of microvasculature by rigid sickle cells....pain, fever, tissue necrosis, swollen hands or feet (dactylitis)

Front 27

whats a common cause of death in sickle cell anemia

Back 27

acute chest syndrome- fever, chest painb, inflitrates...resembles pneumonia

in young people- bacterial infections by encapsulated organisms

Front 28

whats a common cause of death in sickle cell anemia

Back 28

acute chest syndrome- fever, chest painb, inflitrates...resembles pneumonia

in young people- bacterial infections by encapsulated organisms

Front 29

what is aplastic crisis?

Back 29

temporary cessation of erythropoiesis in setting of chronic hemolyisis....infection of red cell progenitors (parvo)

Front 30

what is aplastic crisis?

Back 30

temporary cessation of erythropoiesis in setting of chronic hemolyisis....infection of red cell progenitors (parvo)

Front 31

Lab findings in sickle cell anemia

Back 31

Anemia- (HCT 18%-30%)
Reticulocytosis 10-20%

Front 32

Dx of sickle cell

Back 32

metabisulfite, oxygen consuming reagent

Hb electrophoreisis

DNA PCR testing for mutation

Front 33

TX for sickle cell

Back 33

transfusion, hydration

hydroxyurea to reactivate HbF

Front 34

what is the second most prevalent hemoglboinopathy

Back 34

hemoglobin C

Front 35

whats the scientific name for HbC

Back 35

beta6 glu>lys

Front 36

whats the danger in HbC

Back 36

combination with another abnormal hemoglobin

Front 37

whats found morphologically in HbC

Back 37

intracellular Hb crystals found

Front 38

this Hbopathy is most prevalent among SE asians

Back 38

Hemoglobin E

Front 39

scientific name for HbE

Back 39

Beta26 Glu>lys

Front 40

in heterozygous HbE you would see

Back 40

no anemia, only microcystosis

Front 41

bite cells, the two kinds and what affinity they have

Back 41

Hb Koln- high O2 aff...shift left
Hb Hammersmith- low O2 aff...shift right