LEC 9 Flashcards

1
Q

what is the problem with hemoglobinopathies and thalassemias

A

the gene that produces the globin chain has a mutation

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2
Q

is thalassemias qualitative or quantitative

A

quantitative

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3
Q

what types of hb are present during intrauterine

A

Gower-1
Gower-2
portland
Hb F

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4
Q

what type of Hb are present at birth

A

Hb F
Hb A

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5
Q

def? abnotmality in Hb structure and function due to a mutation in one or more globin genes

A

Hemoglobinopathies

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6
Q

what factors affect Hb function

A
  • aa substitution
  • location of globin chain
  • # of genes
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7
Q

t or F: if someone is heterozygous (hemoglbinopathies) they will still product some Hb

A

T

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8
Q

what are the 4 most common homozygous Hemoglobinopathies

A
  • Hb S
  • HbC
  • hb D
  • hb E
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9
Q

in hb S what is glutamic acid replaced with and in what position

A

Val 6

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10
Q

what does homozygous Hb S cause

A

severe hemolytic anemia and sickling

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11
Q

in hb C what is glutamic acid replaced with and in what position

A

Lys 6

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12
Q

what does homozygous Hb C cause

A

mild hemolytic anemia

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13
Q

in hb D what is glutamic acid replaced with and in what position

A

Gln 121

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14
Q

what does homozygous Hb D cause

A

no anemia

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15
Q

in hb E what is glutamic acid replaced with and in what position

A

Lys 26

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16
Q

what does homozygous HbE cause

A

mild microcytic anemia

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17
Q

what globin chains are most likely affected in hemoglbinopathies

A

beta

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18
Q

what hb is associated with methemoglobinemia and cyanosis

A

Hb M

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19
Q

what hb is associated with increased O2 affinity

A

Hb Bethesda

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20
Q

what hb is associated with decreased O2 affinity

A

Hb kansas

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21
Q

def? hb precipitates as inclusions in RBC

A

Heinz bodies

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22
Q

what kind of thalassemias has a tetramer of normal hb chains

A

alpha

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23
Q

what type of hb is common in sub Saharan Africa, Arab India, the Americas, Eurasia, and southeast asia

A

Hb S

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24
Q

what hb has protection against malaria (p. falciparum)

A

Hb S (heterozygous)

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25
Q

t or F: when a hb S pt is oxygenated they’re blood will sickle

A

F

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26
Q

t or F: when a hb S pt is deoxygenated they’re blood will sickle

A

T

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27
Q

when O2 saturation decreases to what in a homozygous pt sickling starts

A

less than 85%

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28
Q

when O2 saturation decreases to what in a heterozygous pt sickling starts

A

less than 40%

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29
Q

what is responsible for vasoocclusive crises

A

reversible sickling

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30
Q

type of sickling: Hb S containing RBCs change shape in response to O2 tension

A

reversible sickling

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31
Q

type of sickling: cells do not change their shape regardless of O2 tension or degree of hb polymerization

A

irreversible sickling

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32
Q

at what age is Hb S noticed

A

6 months after birth

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33
Q

what virus causes an aplastic crisis (Hb S)

A

parvovirus B19 infection

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34
Q

what factors initiate vasooclusion (Hb S) (6)

A
  • acidosis
  • hypoxia
  • dehydration
  • infection
  • fever
  • extreme cold
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35
Q

what will the bone marrow look like of pt with Hb S

A

erythroid hyperplasia

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36
Q

def? transitional cell that will become sickle cell

A

oat cell

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37
Q

tube solubility reducing agent

A

sodium dithionite

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38
Q

what does it indicate if tube solubility test is turbid

A

Hb S is present

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39
Q

what will cause a false neg in tube solubility test

A

low HCT

40
Q

what will cause a false pos in tube solubility test

A

hyperlipidemia or too much blood

41
Q

what type of hb travels the fastest in gel eletrophoresis

A

A

42
Q

what type of hb travels the 2nd fastest in gel eletrophoresis

A

F

43
Q

t or F: gel electrophoresis will never be a STAT test

A

t

44
Q

on alkaline electrophoresis what hb migrate with Hb S

A

Hb D and G

45
Q

how can hb d and G further be differentiated from hb S besides alkaline electrphoresis

A

neg result on Hemoglobin solubility test

46
Q

on alkaline electrophoresis what hb migrate with Hb C

A

hb A2, E, and O

47
Q

what will RBCs look like in sickle cell trait

A

normocytic/ normochromic

48
Q

sickle cell trait: hb solubility screening test results

A

pos

49
Q

sickle cell trait: ___% Hb S and ___% HbA

A

40, 60

50
Q

what hb is the most common non-sickling variant in US

A

Hb C

51
Q

Hb C: hb solubility screening test results

A

neg

52
Q

t or F: vasoocclusive crises does not occur in Hb C

A

T

53
Q

what will RBCs look like in

A

normocytic / normochromic

54
Q

PBS of Hb C

A

target cells, crystals

55
Q

people with Hb E have protection against?

A

malaria

56
Q

Hb E: Hb solubility test results

A

neg

57
Q

Hb E: ___ MCV and ____ retic count

A

low and normal

58
Q

what is the most common heterozygous Hb syndrome

A

HbSC

59
Q

T or F: Hb SC may cause vasooclusion

A

t

60
Q

PBS of hb SC:

A

few sickle cells and SC crystals

61
Q

Hb SC solubility test results

A

pos

62
Q

what is the problem with thalassemias

A

with the amount of hb

63
Q

what chromosomes are involved in globin production

A
  1. and 11
64
Q

how many beta genes do people have total

A

2

65
Q

what chromosome is beta gene on

A

11

66
Q

how many. alpha genes do people have total

A

4

67
Q

what age is beta thalassemia diagnosis

A

6 months to 1 year

68
Q

what age is alpha thalassemia diagnosis

A

fetal life

69
Q

what globin chains are not produced in Beta0

A

beta chains

70
Q

T. or F; Beta0/beta0 does not produce hbA

A

T

71
Q

what hb will increase in Beta0

A

Hb F

72
Q

what does it mean to be beta+

A

partial def of beta chains

73
Q

what does it mean to be betasilent

A

minimal reductions in beta chain production

74
Q

what does it mean to be delta beta0

A

no delta or beta chains are produced

75
Q

if someone is homozygous (delta beta0/ delta beta0) what hb can’t they make

A

hb A and Hb 2a

76
Q

what does it mean to be alpha +

A

deletion of either alpha 1 or alpha 2 globin genes

77
Q
  • alpha/ alpha alpha
A

silent

78
Q

what does it mean to be alpha 0

A

deletion of both alpha 1 and alpha 2 globin genes.

79
Q

what is the genotype of beta thalassemia minor

A

beta +/beta and beta 0/ beta

80
Q

what is the genotype of beta thalassemia major

A

beta0/beta0

81
Q

what is the genotype of of beta thalassemia intermedia

A

delta beta0 / delta beta0

82
Q

what is the genotype of beta thalassemia silent carrier

A

b silent/ beta

83
Q

what hb is elevated in beta thalassmia minor

A

hb A2

84
Q

what is the treatment for beta thalassemia major

A

blood transfusion

85
Q

what hb is increased in beta thalassemia major

A

hb F

86
Q

what is seen in the pbs of beta thalassmia major

A

nRBCs

87
Q

what condition causes bone changes

A

beta thalassemia major

88
Q

if 1 alpha gene is present what hb is made

A

Hb H

89
Q

if 0 alpha genes are present what hb is made

A

barts hb

90
Q

in hb h disease what do gamma chains switch to

A

beta

91
Q

in hb h disease what does hb h switch to

A

barts hb

92
Q

rbc morphology of Hb h disease

A

hb h inclusions (golf ball)

93
Q

disease? without intrauterine transfusion the fetus becomes severely anemic which leads to cardiac failure and edema in fetal subcutaneous tissues

A

hydrops fetalis

94
Q

what type of hb is present in hydrops fetalis

A

barts

95
Q

mentzer index =

A

RBC/ MCV

96
Q

if mentzer index is less than 13

A

favors thal minor

97
Q

if mentor index is more than 13

A

favors IDA