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Y3 - Clinical Haematology > Anaemia > Flashcards

Anaemia Flashcards

1
Q

What is anaemia?

A

haemoglobin levels 2 standard deviations below the normal for age and sex

Anaemia is a common condition that results in impaired oxygen delivery to body tissues due to reduced haemoglobin

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2
Q

What is the normal range for female Hb?

A

115-165 g/L

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3
Q

What is the normal range for male Hb?

A

130-180 g/L

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4
Q

How can anaemia be classified?

A

according to the average size of the red blood cells (RBC), referred to as mean corpuscular volume (MCV)

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5
Q

What are the 3 categories of anaemia according to mean corpuscular volume?

A
  1. Microcytic anaemia
  2. Normocytic anaemia
  3. Macrocytic anaemia
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6
Q

What is the MCV threshold for microcytic anaemia?

A

<80

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7
Q

What is the MCV range for normocytic anaemia?

A

80-100

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8
Q

What is the MCV range for macrocytic anaemia?

A

> 100

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9
Q

Give 6 general presentations associated with anaemia :

A
  1. Pallor
  2. Fatigue
  3. Breathlessness
  4. dizziness
  5. Palpitations
  6. cold feet and hands
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10
Q

What is the most common cause of microcytic anaemia?

A

iron deficiency

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11
Q

What causes smaller RBCs in microcytic anaemia?

A

lower haemoglobin causes an extra division of RBCs to maintain an adequate haemoglobin content

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12
Q

What is the word used to describe pale RBCs with small nuclei?

A

hypochromic

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13
Q

Give 3 potential causes of iron deficiency:

A

1) chronic blood loss (e.g. menorrhagia)
2) malabsorption(e.g. gastrectomy or Coeliac)
3) increased requirements (pregnancy, childhood)

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14
Q

What do patients over 40 with iron deficiency require?

A

an upper and lower endoscopy

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15
Q

Is total iron binding capacity high or low in iron deficiency anaemia?

A

high

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16
Q

Is ferritin high or low in iron deficiency anaemia?

A

Low

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17
Q

Give 3 types of microcytic anaemia:

A

1) iron deficiency anaemia
2) sideroblastic anaemia
3) thalassaemia

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18
Q

What is siderobalstic anaemia?

A

where defective protoporphyrin synthesis results in low haemoglobin

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19
Q

Describe the cause of congenital sideroblastic anaemia:

A

a deficiency of aminolaevulinic acid synthetase (ALAS) enzyme which is the rate determining enzyme for protoporphyrin synthesis, results in low haemoglobin

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20
Q

Give 3 examples of causes of acquired sideroblastic anaemia:

A
  1. Alcoholism
  2. Lead poisoning
  3. Vitamin B6 deficiency
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21
Q

Why is vitamin B6 deficiency a cause of acquired sideroblastic anaemia?

A

it is a cofactor for the ALAS enzyme, the rate determining enzyme for protoporphyrin synthesis

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22
Q

Are iron levels high, low or normal in sideroblastic anaemia?

A

Normal

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23
Q

What is a characteristic sign of sideroblastic anaemia on blood film?

A

sideroblasts

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24
Q

What are sideroblasts?

A

abnormal red blood cells that have a ring around the nucleus due to iron building up in the mitochondria

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25
Q

An inherited mutation in what gene causes thalassaemia?

A

Globin gene

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26
Q

What is thalassaemia major?

A

the most severe type of thalassaemia - requires regular transfusions

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27
Q

What is alpha thalassaemia?

A

where the alpha globin chains are affected by a mutation

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28
Q

What is beta thalassaemia?

A

where the beta globin chains are affected by a mutation

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29
Q

What is thalassaemia trait?

A

carrier for thalassaemia - may be asymptomatic or experience mild symptoms

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30
Q

Where does thalassaemia frequently occur?

A

Mediterranean, Africa, Western and Southeast Asia, as well as India and Burma.

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31
Q

What is thalassaemia protective against?

A

Plasmodium falciparum​ malaria

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32
Q

What facial dysmorphia is associated with thalassaemia?

A

chipmunk facies (high bulging check bones with protrusion or the anterior teeth)

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33
Q

Give 3 genes associated with thalassaemia:

A

1) HBB
2) HBA1
3) HBA2

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34
Q

Will ferritin be high, low or normal in thalassaemia?

A

normal

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35
Q

True or false: normocytic anaemia is normally normochromic

A

True

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36
Q

What are the two broad causes of normocytic anaemia?

A

1) haemolysis
2) underproduction of red blood cells

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37
Q

Where does extravascular haemolysis primarily occur?

A

Spleen

38
Q

what is intravascular haemolysis?

A

Intravascular haemolysis is the breakdown of red blood cells within the circulation, leading to the release of free haemoglobin into the blood

39
Q

Give 6 types of haemolytic normocytic anaemia:

A

1) hereditary spherocytosis
2) sickle cell anaemia
3) paroxysmal nocturnal haemoglobinuria
4) glucose-6-phosphate dehydrogenase deficiency
5) immune haemolytic anaemia
6) microangiopathic haemolytic anaemia

40
Q

Give 3 broad causes of anaemia of chronic disease:

A
  1. Malignancy
  2. Chronic infections
  3. Autoimmune disease
41
Q

Describe the pathophysiology of anaemia of chronic disease:

A

chronic diseases can cause the liver to produce more hepcidin which stimulates the storage of serum iron as ferritin, reducing the availability of iron in serum

42
Q

Is anaemia of chronic disease typically macro, normo or microcytic?

A

normocytic (but can progress to microcytic)

43
Q

Are serum iron levels high, low or normal in anaemia of chronic disease?

A

low

44
Q

Are serum ferritin levels high, low or normal in anaemia of chronic disease?

A

high

45
Q

Is total iron binding capacity high, low or normal in anaemia of chronic disease?

A

low

46
Q

What causes hereditary spherocytosis?

A

an inherited defect of red blood cell cytoskeleton membrane proteins such as ankyrin and spectrin

47
Q

Is serum uric acid high, low or normal in hereditary spherocytosis?

A

high

48
Q

Are reticulocytes high, low or normal in hereditary spherocytosis?

A

high

49
Q

What causes haemolysis in hereditary spherocytosis?

A

abnormal spherocytes are haemolysed by the spleen

50
Q

What is the inheritance pattern of sickle cell anaemia?

A

autosomal recessive

51
Q

What protein is affected in sickle cell anaemia?

A

beta globin chain

52
Q

What change in amino acids causes sickle cell anaemia?

A

valine replaces glutamic acid

53
Q

True or false; there is both intravascular and extravascular haemolysis seen in sickle cell anaemia

A

true

54
Q

Are reticulocytes high, low or normal in sickle cell anaemia?

A

high

55
Q

Is serum uric acid high, low or normal in sickle cell anaemia?

A

high

56
Q

Give 3 signs of sickle cell anaemia on a blood film:

A
  1. Sickling of erythrocytes
  2. Target cells
  3. Howell-jolly bodies
57
Q

What molecule is defective in paroxysmal nocturnal haemoglobinuria?

A

glycosylphosphatidylinositol (GPI)

58
Q

Describe the pathophysiology of paroxysmal nocturnal haemoglobinuria: (3)

A

1) an acquired defect in GPI makes red blood cells more susceptible to the complement system
2) shallow breathing during sleep can cause CO2 retention and therefore mild respiratory acidosis
3) this acidosis targets the complement system which lyses red blood cells

59
Q

Are reticulocytes high, low or normal in paroxysmal nocturnal haemoglobinuria?

A

normal

60
Q

Is serum uric acid high, low or normal in paroxysmal nocturnal haemoglobinuria?

A

high

61
Q

What does G6PD stand for?

A

glucose-6-phosphate dehydrogenase

62
Q

Describe the pathophysiology of G6PD deficiency haemolysis:

A

G6PD produces NADPH which reduces glutathione - a protector form oxidative injury - a deficiency causes intravascular haemolysis due to destruction via oxidative stress

63
Q

Does G6DP cause intravascular or extravascular haemolysis?

A

intravascular

64
Q

Are reticulocytes high, low or normal in G6DP deficiency?

A

high

65
Q

Is serum uric acid high, low or normal in G6DP deficiency?

A

high

66
Q

Does IgG mediated haemolysis cause intravascular or extravascular haemolysis?

A

extravascular

67
Q

Does IgM medicated haemolysis cause intravascular or extravascular haemolysis?

A

intravascular

68
Q

Describe the pathophysiology of microangiopathic haemolytic syndrome:

A

red blood cells are destroyed by structural issues within vasculature such as microthrombi, prosthetic heart valves or aortic stenosis

69
Q

What are schistocytes?

A

Fragmented RBCs

70
Q

In which type of anaemia are schistocytes seen?

A

microangiopathic haemolytic anaemia

71
Q

Give 2 causes of underproduction of red blood cells?

A

1) bone marrow failure
2) erythropoietin deficiency

72
Q

Are reticulocytes high, low or normal in underproduction of RBCs?

A

normal

73
Q

Is serum uric acid high, low or normal in underproduction of RBCs?

A

normal

74
Q

What are the two types of macrocytic anaemia?

A

1) megaloblastic (impaired DNA synthesis)
2) non-megaloblastic

75
Q

Give 4 causes of folate deficiency:

A

1) poor diet
2) malabsorption
3) increased demand (e.g. pregnancy, haemolytic anaemia, cancer)
4) use of folate antagonists (e.g. trimethoprim)

76
Q

Why does folate deficiency result in megaloblastic anaemia?

A

folate is required for purine synthesis

77
Q

Is serum homocysteine high, low or normal in folate deficiency anaemia?

A

high

78
Q

Is serum methylmalonic acid high, low or normal in folate deficiency anaemia?

A

normal

79
Q

Why is it uncommon to see vitamin B12 deficiency?

A

the body has a large hepatic store of vitamin B12 which takes a while to become depleted

80
Q

What cofactor enables absorption of vitamin B12 in the terminal ileum?

A

intrinsic factor

81
Q

What cells produce intrinsic factor?

A

gastric parietal cells

82
Q

What is pernicious anaemia?

A

where parietal cells are destroyed through an autoimmune process, impairing the production of intrinsic factor and therefore the absorption of vitamin B12

83
Q

What is the most common cause of vitamin B12 deficiency anaemia?

A

pernicious anaemia

84
Q

Other than pernicious anaemia, give three causes of vitamin B12 deficiency:

A

1) vegan diet
2) pancreatic insufficiency
3) damage to terminal ileum

85
Q

Is serum methylmalonic acid high, low or normal in vitamin B12 deficiency anaemia?

A

high

86
Q

Is serum homocysteine high, low or normal in vitamin B12 deficiency anaemia?

A

high

87
Q

True or false: vitamin B12 deficiency causes neurological symptoms alongside megaloblastic anaemia?

A

True

88
Q

Give 3 causes of non-megaloblastic macrocytic anaemia:

A

1) alcoholism
2) hypothyroidism
3) drugs like fluorouracil

89
Q

Is serum homocysteine high, low or normal in non-megaloblastic macrocytic anaemia?

A

normal

90
Q

Is serum methylmalonic acid high, low or normal in non-megaloblastic macrocytic anaemia?

A

normal

Y3 - Clinical Haematology (5 decks)

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