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Primary abnormalities occur when?
Primary--during the dogma
Secondary---modification of the production from primary
The iron of the heme is covalently linked to what a.a?
Which a.a holds the pocket of heme?
Alpha globin genes --what chromosome?
the beta globin genes on ch 11 are identical except for what two a.a?
At 6 weeks, the fetal liver takes over erythropoeises and what change in globin genes occurs?
What is the genetic make up of the globin genes?
3 exons separated by 2 introns
What is needed for high expression of globin genes
temporal switching during development?
Locus control region (LCR)
The Locus control region contains cis acting elements of trans acting elements?
cis acting elements
the hispanic epsilon gamma delta beta globin gene product results from what?
deletion of LCR
Genetic Disorders of Hemoglobin can be classified into 3 broad categories, what are they?
Structrural variants----sickle cell
Persistence of fetal hemoglobin(gamma) after birth
What are two hemoglobins with novel properties?
What are two unstable hemoglobins?
Hb Hammersmith is caused by what?
missense mutation from Phe42 to serine
What physical property results from the Hb S mutation?
loss of negative charge...decrease in solubility
In HbS when do RBC acquire the sickle shape?
Under hypoxic condtions
RFLP for HbS produces a larger or smaller fragment?
Larger bc of the altered cleave site for the RE
HbS and HbC are inherited how?
Hb hammersmith and Hb Gunhill are inherited how?
What happens in Hb Hammersmith?
Heme falls out of pocket
What produces chocolate cyanosis?
Slipped mispairing is seen in what Hb?
Hb Gun hill
a 5 base pair deletion is seen in what Hb?
Hb Gun Hill
What is the mutation in Hb Hyde park?
His92 to tyrosine
Which Hb has a locked in mutation into a relaxed state?
Which hemoglobin has a longer than usual b chain?
Which Hb has an activated cryptic splice site?
Hb Lapore results from what?
fusion of delta and beta genes
What is Hb Antilapore?
both beta and delta globins expressed
Which hemoglobins give a concomittant increase of Fetal Hb?
Hb Lapore and antiLapore
Defect in production of hemoglobin results in what type of anemia?
microcytic, normochromic anemia
Hb Bart and Hb H result from what thalassemia?
Hb Bart---gamma 4
Hb H-betta 4
What results from alpha thalassemia in a fetus?
Hydrops fetalis---systemic edema
Whats the most common mechanism of creating alpha thalassemias?
unequal crossing over
In which thalassemia do you seen medullary hyperplasia and extramedullary erythropeoises?
chip munk facies and front bossing are characteristic of what?
most beta thalassemias are caused by what?
single base deletion
Splicing mutations tend to be the cause of what thalassemia?
Hereditary persistence of fetal hemoglobin could be caused by what?