Block 3 - Lec 36 - Hemoglobin / Globin Genes Flashcards
functional human hemoglobins all contain blank of two dissimilar blank chains
tetramers, globin
adult and fetal hemoglobin have blank alpha subunits
alpha
embryonic hemoglobin have blank beta subunits
epsilon
there are multiple blank for hemoglobin…. kind of like collagen
gene families
at birth there is no blank hemoglobin
embryonic
fetal hemoglobin goes away after about blank of life
1 year
alpha globin family is on this chromosome
16
beta gloin family is on this chromosome
11
sickle cell anemia is caused by a blank mutation from a blank base change
missense, single
Hb S is blank
sickle cell
sickle cell is from blank replacing blank codon and a blank residue replacing a blank residue in the protein
GUG, GAG, valine, glutamate
local anesthesia is blank for sickle cell patients
safe
general anesthesia is blank for sickle cell patients
dangerous
most hemoglobin variants are due to blank
single aa subsitutions (structural changes)
another alteration in hemoglobin that has changed quantitative expression
thalassemias
thalasemia is most common in blank population
mediterranean (greek, italian)
individuals who carry a thalassemia gene fail to produce the normal quantity of one or more blank
globin chains
most of the hemoglobin in adults (95%) is blank
Hb A
two types of thalassemia and are insufficient produciton of these globins
alpha, beta
more levels of thalassemia
1,2,3,4
mild anemia no big deal
1
anemia that can still live a normal life
2
anemia that has excess beta globin and thus Hb H disease with a shorter lifespan
3
anemia that is incompatible with life and results in dead fetus
4
