Sarge 4-9 Anemias Thalessemias Flashcards

1
Q

why are there high frequencies of certain anemia in parts of the world

A

malaria infection advantage for sickle cell, isolated populations

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2
Q

thalassemia

A

globin proteins quantities are low but the structure is normal, usually have nonsense or splice site mutations

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3
Q

sickle cell anemia

A

Glu6Val (E6V) mutation on beta chain, hemoglobin forms chains, stick in capillaries

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4
Q

heterozygote advantage

A

selective sickling of infected cells (AS red cells), phagocytosis of sickle cells

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5
Q

thalassemia phenotype

A

anemia, misshapen blood cells, spleonmegaly, large bones (facial)

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6
Q

cryptic splice site

A

new splice sites created by mutation in intron, may lead to stop codon inclusion. May be prevented from being used with an antisense oligonucleotide

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7
Q

when do sickle cell trait people show symptoms

A

heterozygotes can suffer sickle cell trait at low oxygen, high altitude

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8
Q

structure of hemoglobin

A

HbA: 2 beta units 2 alpha, heme groups in each subunit, many alpha helices

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9
Q

describe genomic features of hemoglobin

A

2alpha and 1beta subunits are on different chr, in cluster of related genes in order of expression. Under control of locus control regulator (LCR-beta), and HS-40 (alpha)

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10
Q

order of expression of Hb during development

A

zeta/eta until 6 weeks pregnant, then alpha/gamma until 6 months after birth (changes to regular alpha/beta)

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11
Q

alpha thalassemia defect

A

loss of alpha-globin alleles (usually not just point mutations)

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12
Q

beta0 thalassemia defect

A

no synthesis from an allele of beta-globin

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13
Q

beta+ thalassemia defect

A

intermedia= B+/B+, B0/B+, minor= B+/B reduced synthesis from an allele of beta-globin

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