Anaemia Flashcards

1
Q

Anaemia definition

A

reduction of total circulating red cell mass below normal limits - reduces oxygen carrying capacity of blood

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2
Q

reduced oxygen carrying capacity of blood could lead to

A

tissue hypoxia

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3
Q

etiological clues to anaemia (3)

A

red cell size, shape, degree of haemoglobinisation

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4
Q

3 red cell sizes

A

normocytic, microcytic, macrocytic

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5
Q

2 degrees of haemoglobinisation

A

normochromic, hypochromic

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6
Q

microcytic and hypochromic anaemia suggest

A

haemoglobin synthesis disorder

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7
Q

macrocytic anaemia suggests

A

maturation in bone marrow abnormalities

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8
Q

leg ulcers suggest

A

sickle cell anaemia

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9
Q

bone deformities suggest

A

thalassaemia major

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10
Q

jaundice suggests

A

haemolytic anaemia

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11
Q

koilonychia (spoon-shaped nails) suggests

A

iron deficiency anaemia

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12
Q

3 features of haemolytic anaemias

A

premature destruction and short life span RBCs, accumulation of breakdown material, elevated erythropoietin and rate of erythropoiesis

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13
Q

cause of extravascular haemolytic anaemia

A

alterations which make RBCs less deformable

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14
Q

causes of intravascular haemolytic anaemia (4)

A

mechanical injury, complement fixation, intracellular parasites, exogenous toxic factors

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15
Q

3 signs of extravascular haemolytic anaemia

A

anaemia, splenomegaly, jaundice (bilirubin)

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16
Q

3 signs of intravascular haemolytic anaemia

A

anaemia, jaundice (bilirubin), haemoglobinaemia

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17
Q

process extravascular haemolytic anaemia

A

can’t navigate splenic pulp > red cell sequestration > phagocytosis within cords > some escapes

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18
Q

process intravascular haemolytic anaemia

A

large amount Hb free from lysed cells > bound to HAPTOglobin > rapidly cleared by phagocytes > Hb oxidised to METHEMOglobin (brown) > some passes in urine

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19
Q

Jaundice is from

A

iron build up in kidney > bilirubin

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20
Q

genetics of sickle cell disease

A

maturation in 6th codon of beta globin > replacement of glutamate residue with valine residue

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21
Q

in sickle cell disease, glutamate residue is replace with

A

valine residue

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22
Q

haemoglobin type of sickle cell sufferers

A

HbS

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23
Q

HbS heterozygous phenotype

A

sickle cell trait

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24
Q

sickle cell trait protects against

A

malaria

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25
Q

sickle cell trait symptoms

A

asymptomatic

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26
Q

sickle cell disease and trait most common in people of what descent

A

african

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27
Q

3 major pathological manifestations of sickle cell anaemia

A

chronic haemolysis, microvascular occlusions, tissue damage

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28
Q

4 variables affecting sickling

A

interaction of HbS with other types of Hb in cell, mean cell Hb concentration, transit time of red cells through microvascular beds, intracellular pH

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29
Q

sickle cell trait, percentage HbS and HbA

A

HbS = 40%, HbA = 60%

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30
Q

HbA interferes with

A

HbS polymerisation

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31
Q

RBCs of people with sickle cell TRAIT do not sickle unless under what conditions

A

hypoxic conditions

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32
Q

intracellular what facilitates sickling

A

dehydration

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33
Q

intracellular dehydration facilitates sickling because

A

increases mean cell Hb conc.

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34
Q

transit times slow where (3)

A

spleen, bone marrow, inflamed vascular beds

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35
Q

why might vascular beds be inflamed

A

increased adhesion molecules

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36
Q

sickle red cells express higher than normal amounts of what

A

adhesion molecules

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37
Q

decrease in pH reduced Hb affinity for what

A

oxygen

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38
Q

reduced Hb oxygen affinity increases fraction of

A

deoxygenated HbS

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39
Q

low pH increases tendency of

A

sickling

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40
Q

sickle cell disease, splenomegaly can be seen in

A

children

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41
Q

autosplenectomy seen in

A

adults with sickle cell disease

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42
Q

progressive hypoxic tissue damage leads to

A

autosplenectomy

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43
Q

how does sickling damage RBCs

A

HbS polymers grow > herniate membrane > influx calcium ions into RBC > efflux potassium ions and water > dehydration > increased density and rigidity

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44
Q

sickle cell - damage to RBCs - influx of

A

calcium ions

45
Q

sickle cell - damage to RBCs - efflux of

A

potassium ions and water

46
Q

sickle cell is a form of what type of anaemia

A

haemolytic

47
Q

vaso-occlusive crises

A

episodes of infarction causing sever pain in affected region

48
Q

vaso-occlusive crises common in what tissue

A

bone

49
Q

chronic hypoxia in sickle cell responsible for

A

impaired growth and development

50
Q

sickle cell prognosis improved by (4)

A

DNA synthesis inhibitor drugs, bone marrow transplants, prophylactic antibiotics, blood transfusions

51
Q

HbA has which 4 chains

A

2 alpha, 2 beta

52
Q

HbA alpha chains genes on chromosome

A

16

53
Q

HbA beta gene on chromosome

A

11

54
Q

thalassaemia consequences are from

A

Hb deficiency and excess of other globin chain

55
Q

thalassaemia CARRIERS are protected against

A

Malaria

56
Q

how many HbA alpha chain genes

A

2

57
Q

how many HbA beta chain genes

A

1

58
Q

two categories of beta thalassaemias

A

beta 0 and beta positive

59
Q

beta zero thalassaemia mutations associated with

A

absent beta globin synthesis

60
Q

beta positive thalassaemia mutations associated with

A

reduced beta globin synthesis

61
Q

most common cause of beta positive thalassaemia

A

splicing mutations

62
Q

most common cause of beta zero thalassaemia

A

chain terminator mutations

63
Q

mutations associated with beta positive thalassaemia

A

promotor region mutations (and splicing mutations)

64
Q

beta thalassaemia is (2)

A

hypochromic, microcytic

65
Q

two beta thalassaemia alleles

A

beta thalassaemia major

66
Q

one beta thalassaemia allele

A

beta thalassaemia minor

67
Q

beta thalassaemia minor is (2)

A

asymptomatic, microcytic

68
Q

beta thalassaemia major manifests when

A

6-9 months after birth (hbF–>HbA)

69
Q

major red cell Hb in beta thalassaemia major

A

HbF

70
Q

blood transfusion needed or death as child in

A

beta thalassaemia major

71
Q

bony prominences enlarged and distorted in

A

beta thalassaemia major

72
Q

only cure for beta thalassaemia major is

A

bone marrow transplant

73
Q

in newborns with alpha thalassaemia (hydrops fetalis), excess unpaired gamma globin chains form gamma 4 tetramers known as

A

haemoglobin barts

74
Q

in order children and adults with alpha thalassaemia, excess beta globin chains form beta 4 tetramers known as

A

HbH

75
Q

haemolysis and ineffective erythropoiesis less severe than

A

beta thalassaemia

76
Q

most common cause of reduced alpha chain synthesis and therefore alpha thalassaemia

A

gene deletion

77
Q

silent carrier state alpha thalassaemia

A

deletion of single alpha globin gene allele

78
Q

symptoms of silent carrier state alpha thalassaemia

A

asymptomatic

79
Q

silent carrier state alpha thalassaemia cell type

A

microcytic (slight)

80
Q

deletion of two alpha globin gene alleles

A

alpha thalassaemia trait

81
Q

deletion of two alpha globin gene alleles from single chromosome

A

asian

82
Q

deletion of two alpha globin gene alleles from two different chromosomes

A

african

83
Q

alpha thalassaemia trait cell type

A

microcytic

84
Q

symptoms of alpha thalassaemia trait

A

asymptomatic

85
Q

deletion of 3 alpha globin gene alleles

A

haemoglobin H disease (HbH disease)

86
Q

HbH disease most common in which populations

A

asian

87
Q

in HbH tetramers of what form

A

beta globin

88
Q

HbH has what kind of affinity for oxygen

A

very high

89
Q

deletion of all four alpha globin gene alleles

A

hydrops fetalis

90
Q

barts have what type of affinity for oxygen

A

very high

91
Q

hydrops fetalis have life long dependency on

A

blood transfusion

92
Q

only possible cure for hydrops fetalis

A

bone marrow transplant

93
Q

vitamin B12 deficiency anaemia is what type of anaemia (2)

A

megaloblastic, macrocytic

94
Q

pernicious anaemia

A

vitamin B12 deficiency anaemia resulting from inadequate gastric production / defective function of INTRINSIC FACTOR

95
Q

most common cause of vitamin B12 deficiency anaemia

A

long-standing malabsorption

96
Q

3 types of antibody found in pernicious anaemia

A

parietal canalicular, blocking, binding antibodies

97
Q

spinal cord disease associated with which anaemia

A

vitamin B12 deficiency anaemia

98
Q

treatment for vitamin B12 deficiency anaemia

A

hydroxycobalamin (vitamin B12)

99
Q

median age of diagnosis of pernicious anaemia

A

60

100
Q

folate deficiency anaemia very similar to vitamin B12 deficiency anaemia other than

A

no neurological abnormalities

101
Q

treatment for folate deficiency anaemia

A

oral folic acid

102
Q

most common cause of anaemia worldwide

A

iron deficiency anaemia

103
Q

percentage of world affected by iron deficiency anaemia

A

30%

104
Q

most common cause iron deficiency anaemia (developed world)

A

blood loss

105
Q

most common cause iron deficiency anaemia (developing world)

A

nutritional deficiencies

106
Q

iron absorbed where

A

duodenum

107
Q

cell type in iron deficiency anaemia (2)

A

microcytic, hypochromic

108
Q

long standing anaemia leads to

A

spooning of fingernails

109
Q

conditions carrying increased likelihood of iron deficiency (4)

A

pregnancy, adolescence, periods of rapid growth, intermittent history of blood loss