Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
31 Cards in this Set
- Front
- Back
|
the gene controlling the delta chain production is very close to what gene ? |
beta gene on chromosome 11
|
|
|
if one gene is deleted what happens to the other ?
|
the other might be affected |
|
|
which delta/beta thal is similar to beta thal ?
|
homozygous delta/beta
|
|
|
how does the symptoms of homozygous delta/beta thal differ from that of beta than ?
|
they are milder
|
|
|
what happens to patients with homozygous delta/beta thal ?
|
they survive to adult life with minimal transfusion requirement
|
|
|
does the homozygous delta/beta thalassemia suffer from anemia ?
|
variable 4-100g/l
|
|
|
the homozygous delta/beta thal is what type of thalassemia ?
|
intermediate
|
|
|
why is the homozygous delta/beta thal an intermediate type of thal ?
|
due to more efficient gamma chain production
|
|
|
the more efficient gamma chain production lead the alpha chains to ...
|
not be in excess leading to less rigidity and less hemolysis of RBCs
|
|
|
how is the morphology of the RBCs in the homozygous delta/beta thalassemia ?
|
hypochromic
microcytic |
|
|
is anisocytosis and poikilocytosis found in the homozygous delta/beta thal ?
|
markedly
|
|
|
are erythrocytes inclusions seen in the homozygous delta/beta thalassemia ?
|
yes commonly
|
|
|
the hemoglobin electrophoresis of the homozygous delta/beta thal shows what ?
|
100% Hb F
|
|
|
what is the heterozygous delta/beta thal similar to ?
|
beta thal minor
|
|
|
what is the difference in the symptoms between the delta/beta thal and the beta thal minor ?
|
they are less severe in the former
|
|
|
hemoglobin electrophoresis in the delta/beta thal shows what percentages ?
|
Hb A decreased
Hb F 5-20% Hb A2 normal |
|
|
what does HPFH stand for ?
|
hereditary persistence of fetal hemoglobin
|
|
|
HPFH describes a group of heterogenous disorders characterized by increase levels of ...
|
Hb F
|
|
|
Does HPFH have the same clinical and hematologic features of thalassemia ?
|
no
|
|
|
what is HPFH characterized by ?
|
deletion or inactivation of the delta beta structural gene complex
|
|
|
in HPFH what can we say about the gamma chains ?
|
there is a compensatory persistance of gamma chain production into adult life
|
|
|
the compensatory persistence of gamma chains into adult life in HPFH prevents ...
|
significant clinical abnormalities
|
|
|
what is the difference between HPFH and delta beta thal concerning the gamma chains ?
|
the increase in gamma chains in the hpfh is sufficient to almost balance alpha chain synthesis
|
|
|
the increase in gamma chains in the hpfh is sufficient to almost balance alpha chain synthesis results in the absence of what hemoglobin ?
|
Hb A
Hb A2 |
|
|
the HbF production continues throughout life preventing the symptoms of thalassemia through ...
|
preventing accumulation or precipitation of excess alpha chains
|
|
|
the subject having HPFH is ...
|
perfectly healthy
|
|
|
what is the lab diagnosis of HPFH ?
|
erythrocytosis
|
|
|
why does HPFH have erythrocytosis ?
|
due to high affinity of HbF
|
|
|
electrophoresis of HPFH shows ...
|
100% Hb F
|
|
|
heterozygous conditions of HPFH look like what ?
|
beta thalassemia minor
|
|
|
what does electrophoresis show for the heterozygous of HPFH ?
|
Hb A decreased
Hb F 5-20% Hb A2 normal |
