Mon jul 27 Flashcards
speed of hemoglobin movement on gel electrophoresis?
hemoglobin A> hemoglobin S> hemoglobin C
what is the normal form of hemoglobin?
HbA
what mutation occurs in sickle cell anemia?
glutamate (neg charge) on the beta chain is replaced with valine (nonpolar)
what mutation occurs in hemoglobin C?
glutamate is replaced with lysine (pos charge)
what types of mutations cause HbS and HbC?
missense mutations
what type of hemoglobin do patients with alpha thalasemmia have?
HbH (beta tetramers)
what is HbH?
beta tetramers
how would HbH look on electrophoresis?
it would migrate FARTHER than HbA
what is Hb Barts?
gamma
what will you see on blood smear of someone with HbC?
HbC crystals
what is the name of the disorder with galactokinase deficiency?
galactosemia
Presentation of galactosemia
cataracts and reducing sugars in the urine
how does fructokinase deficiency present? (essential fructosuria)
Benign - + reducing sugars in urine
what is deficient in hereditary fructose intolerance?
aldolase B
presentation of hereditary fructose intolerance?
hypoglycemia, hypophosphatemia, failure to thrive
whats the function of the theca externa cells?
do NOT participate in steroidogenesis - they are supportive tissue made of SM and fibroblasts
whats the function of theca interna cells?
synthesize androgens and progesterone under stimulation of LH
which cells convert androgens to estrogen in the female ovary?
granulosa cells (in response to FSH)
what enzyme do granulosa cells contain?
aromatase