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