Test 21- BC Flashcards
alpha galactosidase A def
Fabry disease that leads to the accumulation of ceramide trihexoside
Skin lesions on lower abdomen (angiokeratomas) and fibroblasts that fail to metabolize ceramide trihexosidase.
Fabry disease
without enzyme replacement what can happen to pt’s w/ Fabry’s disease?
renal failure
CV failure
result of mutation in leptin gene/receptor
hyperphagia and profound obesity
HbF
dominates in newborns
2alpha, 2 gamma
Has a high affinity for O2, produced in final 7 mos of gestation
HbF
synthesis begins in liver, continues in spleen, then moves to bone marrow
When do infant switch from HbF to HbA?
during first 6 mos
2 alpha
2 beta
2 alpha
2 delta Hb
Hb A2
Normal variant of human Hb
2 zeta
2 epsilon
Hb Gower
earlierst Hb found in fetus, synthesized in yolk sac and replaced by Hb Portland, before Hb F begins at 10-12 weeks
four gamma
HbBart (4 allele deletion)
homozygous alpha thalassemia
HbBart–has high affinity for O2 and doesn’t release it to tissue> hypoxia>
HYDROPS FETALIS
Plan an important role in mRNA translation regulation and mRNA degradation in the cytoplasm.
Cytoplasmic P bodies
Stop codons
UGA
UAA
UAG
Right shift
ACE BATs (right) handed
Acid CO2 (increase) Exercise (increases lactic acid) 2,3- BPG (increase) Altitude (easier release of O2) Temperature (heat)
**increase in all factors
Left shift O2-Hb dissociation curve
Decreased H (increased pH)
Deceased Co2
Decreased 2,3- BPG
Decreased temp
LUNG left
**decrease in all factors