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Phase 2A - Haematology > Conditions - Anaemia > Flashcards

Conditions - Anaemia Flashcards

1
Q

What are the different types of anaemia?

A

Iron deficiency, Pernicious anaemia (B12 deficiency), glucose-6-phosphate dehydrogenase, thalassaemia, sickle cell anaemia, folate deficiency, bone marrow failure anaemia and haemolytic anaemia

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2
Q

What are the different types of microcytic anaemia?

A

Iron deficiency, thalassaemia and chronic inflammatory disease

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3
Q

What are the different types of normocytic anaemia?

A

Glucose-6-Phosphate Dehydrogenase Deficiency and haemolytic anaemia

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4
Q

What are the different types of macrocytic anaemia?

A

Pernicious anaemia (B12 deficiency) and folate deficiency

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5
Q

What is iron deficiency anaemia?

A

Lack of iron

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6
Q

What type of RBCs do you get in iron deficient anaemia?

A

Microcytic

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7
Q

What does microcytic mean?

A

Small hypochromic RBCs

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8
Q

What is the clinical presentation of anaemia?

A

Fatigue Lethargy Faintness Dyspnoea Palpitations Headache

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9
Q

What is the clinical presentation of iron deficient anaemia?

A

Normal anaemia - faintness, dyspnoea, headache, palpitations, lethargy, fatigue Specific to iron deficient anaemia - brittle hair and nails, atrophic glossitis and angular stomatitis

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10
Q

What is this? Give one example where this is a clinical presentation of the disease?

A

This is atrophic glossitis and it is common in iron deficient anaemia

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11
Q

What is this? Give one example of a condition where this is a clinical presentation of disease?

A

Angular stomatitis and in iron deficient anaemia

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12
Q

What is the pathophysiology of iron deficient anaemia?

A

Iron is necessary for the formation of haem. Insufficient iron means that there is a lack of effective RBCs. Symptoms of anaemia.

Iron is also needed for the formation of hair and nails

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13
Q

What is the aetiology of iron deficient anaemia?

A
  1. Blood loss (most common)
  2. Increased demands (pregnancy and growth)
  3. Decreased absorption (small bowel disease)
  4. Poor intake
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14
Q

What is the epidemiology of iron deficient anaemia?

A

2-5% men and post menopausal. Premenopausal are more at risk due to menses

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15
Q

What are the diagnostic tests for iron deficient anaemia?

A

FBC and serum ferritin

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16
Q

What does the FBC show in iron deficient anaemia?

A

Hypochromic microcytic anaemia

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17
Q

What does the serum ferritin show on iron deficient anaemia?

A

Low

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18
Q

What is the treatment of iron deficient anaemia?

A

Iron salts oral

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19
Q

What are the complications of iron deficient anaemia?

A

Due to the treatment of iron salts oral, black stools, constipation, diarrhoea and nausea

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20
Q

What is pernicious anaemia “B12 deficiency”?

A

Not enough RBCs due to a lack of B12

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21
Q

What kind of RBCs do you get with pernicious anaemia?

A

Macrocytic and megaloblastic

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22
Q

What is macrocytic anaemia?

A

unusually large RBCs they also have low hemoglobin

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23
Q

What is megaloblastic anaemia?

A

Inhibition of DNA synthesis during red blood cell production When DNA synthesis is impaired, the cell cycle cannot progress from the G2 growth stage to the mitosis (M) stage. This leads to continuing cell growth without division, which presents as macrocytosis

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24
Q

What is the clinical presentation of pernicious anaemia?

A

Specific B12 deficiency - Neurological problems, mouths ulcers, paraesthesis and disturbed vision

Anaemia - fatigue, dyspnoea, palpitations, headaches, lethargy and faintness

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25
Q

What is paraesthesis?

A

Abnormal sensation of the skin (tingling, pricking, chilling, burning, numbness)

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26
Q

What is the pathophysiology of pernicious anaemia?

A

Absorption of B12 occurs in the terminal ileum and requires intrinsic factor (from gastric parietal cells) for transport across intestinal mucosa

Intrinsic factor is deficient in pernicious anaemia

Causing megaloblastic anaemia

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27
Q

What is the aetiology of pernicious anaemia?

A

Autoimmune destruction of parietal cells/IF

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28
Q

What is the epidemiology of pernicious anaemia?

A

1/10,000 in northern europe

Peak age 60

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29
Q

What are the diagnostic tests for pernicious anaemia?

A

Blood film and autoantibody

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30
Q

What is found on the blood film for pernicious anaemia?

A

Macrocytic RBCs

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31
Q

What is found on the autoantibody for pernicious anaemia?

A

IF antibodies

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32
Q

What is the role of B12?

A

Vitamin B12 is a nutrient that helps keep the body’s nerve and blood cells healthy and helps make DNA, the genetic material in all cells.

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33
Q

What is the treatment for pernicious anaemia?

A
  1. Vitamin B12
  2. Hydroxocobalamin
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34
Q

Why should you not give folic acid to patients with pernicious anaemia?

A

This leads to fulminant neurological deficit

35
Q

What are the complications of pernicious anaemia?

A

Heart failure, angina and neuropathy

36
Q

What is G6PD (glucose-6-phosphate dehydrogenase deficiency)?

A

Lack of enzyme that maintains protective protein against oxidant injury in RBCs

37
Q

What is the clinical presentation of G6PD?

A

Neonatal jaundice, hemolytic anaemia, acute haemolysis (precipitated by broad beans)

38
Q

What is the pathophysiology of G6PD?

A

G6P is an enzyme in the pentose monophosphate shunt, which maintains glutathione in the reduced state

This protects against oxidant damage in the RBC

Lack of G6P -> increased haemolysis

39
Q

What is the aetiology of G6PD?

A

X linked recessive

40
Q

What is the diagnostic test for G6PD?

A

Direct measurements of G6PD in RBCs

41
Q

What is the treatment for G6PD?

A

Avoid fava beans. Transfusion if necessary

42
Q

What is thalassaemia?

A

Defective subunit of the haemoglobin complex

43
Q

What kind of RBCs do you get in thalassaemia?

A

Microcytic

44
Q

What are the different types of thalassaemia?

A

Alpha and beta

45
Q

What is the clinical presentation of thalassaemia?

A

Variable, can be asymptomatic if heterozygous, severe anaemia if homozygous

In homozygous - failure to thrive and bone deformities due to hypertrophy of bone marrow due to ineffective marrow

Alpha in present in utero

Beta is present in infancy

46
Q

What is the pathophysiology of thalassaemia?

A
  1. Defective versions of either alpha or beta subunits of haemoglobin
  2. Imbalance of subunits
  3. Precipitation of globin chains within RBCs (or precursors)
  4. Cell damage
  5. Death of precursor (ineffective haemolysis)
  6. Haemolysis
47
Q

What is the aetiology of thalassaemia?

A

Genetic

48
Q

What is the epidemiology of thalassaemia?

A

1% carrier of beta, 5% carriers of alpha

49
Q

What is the diagnostic tests for thalassaemia?

A

Genetic testing and haemoglobin electrophoresis

50
Q

What is the treatment for thalassaemia?

A

Homozygotes - blood transfusion, iron chelating agents for iron overload (desferrioxamine) and ascorbic acid increases the iron excretion in urine helps offset iron overload. More severe BMT (bone marrow transplant)

51
Q

What are complications of thalassaemia?

A

Iron overload and endocrine dysfunction (due to the deposition of the iron in the visceral organs)

52
Q

What is folate deficient anaemia?

A

Lack of folate

53
Q

What kind of RBCs do you find in folate deficient anaemia?

A

Macrocytic and megaloblastic

54
Q

What is the clinical presentation of folate deficient anaemia?

A

Folate deficient - develops over 4 months of deficiency (due to bodily reserve), possibly depression, glossitis

Anaemia - fatigue, lethargy, palpitations, headache, dyspnoea, faintness

55
Q

What is the role of folate?

A

Important in red blood cell formation and for healthy cell growth and function

56
Q

What is the pathophysiology of folate deficient anaemia?

A

It is absorbed in the upper intestine - mainly duodenum and jejunum,

Insufficient folate causes megaloblastic anaemia

Erythrocytes are larger and have higher nuclear to cytoplasmic ratios than normal

57
Q

What is the aetiology of folate deficient anaemia?

A

Main cause is poor intake due to dietary deficiency (green leafy, citrus veg and beans, bread cereals)

Excessive requirement

Impaired uptake

Antifolate drugs

58
Q

What are the diagnostic tests for folate deficient anaemia?

A

FBC: macrocytic and erythrocyte folate level: indicated reduced body stores

59
Q

What is the treatment of folate deficient anaemia?

A

Folic acid supplements, treat any underlying cause, advise folate supplements during pregnancy

60
Q

What is haemolytic anaemia?

A

Anaemia due to increased destruction of RBCs

61
Q

What kind of RBCs do you get in haemolytic anaemia?

A

Normocytic

62
Q

What is the clinical presentation of haemolytic anaemia?

A

Haemolytic specific - jaundice, gall stones, leg ulcers and signs of underlying cause

Anaemia

63
Q

What is the pathophysiology of haemolytic anaemia?

A
  1. RBCs are destroyed before their usual 120 day lifestyle
  2. Bone marrow provides compensatory reticulocytes
  3. RBC can be extra or intravascular
  4. Mostly extravascular (particularly by spleen)
64
Q

What is the aetiology of haemolytic anaemia?

A

Metabolic defects, autoimmune, mechanical destruction, secondary to systemic disease (liver disease), infection (malaria)

65
Q

What is the epidemiology of haemolytic anaemia?

A

Depends on underlying condition, sickle cell anaemia, autoimmune disease

66
Q

What are the diagnostic tests for haemolytic anaemia?

A

Reduced haemoglobin, spherocytes, increased reticulocytosis and increased MCV

67
Q

What is the treatment for haemolytic anaemia?

A

Folate and iron supplements, immunosuppressive if autoimmune, splenectomy

68
Q

What are the complications of haemolytic anaemia?

A

Heart failure

69
Q

What is sickle cell anaemia?

A

Hereditary deformation of RBCs as a result of faulty haemoglobin molecules

70
Q

What is the clinical presentation of haemolytic anaemia?

A

Presents at around 6 months when HbF has circulated out

Vasoocclusion - (In children) Acute pain in hands and feet due to occlusion of the small vessels and avascular necrosis of the bone marrow

In adults there is avascular necrosis of the bone marrow in long bones (ribs, spine and pelvis)

Variable frequency

Avascular necrosis leads to shortened bones in children

71
Q

What is the pathophysiology of haemolytic anaemia?

A
  1. Changes in the amino acid sequence of a haemoglobin subunit causes a faulty haemoglobin complex
  2. Distorted shape of RBC into sickles when deoxygenated, which are easily destroyed and occlude vessels easily
  3. Process worsens with repeative deoxygenation
  4. Heterozygotes have minor effect but protect against malaria
72
Q

What is the aetiology of sickle cell anaemia?

A

Autosomal recessive condition affecting haemoglobin B subunits

73
Q

What is the epidemiology of sickle cell anaemia?

A

More common in african populations

74
Q

How does the sickle cell trait protect against malaria?

A

Sickle cells infected with Plasmodium falciparum collapse and prevent the parasite from interfering with the cell’s actin proteins, protecting the host against malaria

75
Q

What is the diagnostic test for sickle cell anaemia?

A

Identified in neonatal screening

Blood film: sickled cells

76
Q

What is the treatment for sickle cell anaemia?

A

Folic acid, pain relief, BMT in severe disease

77
Q

What are the complications of sickle cell anaemia?

A

Chronic pain

78
Q

What is bone marrow failure “aplastic” anaemia?

A

Lack of haemopoiesis as a result of bone marrow failure

79
Q

What is the clinical presentation of bone marrow failure anaemia?

A

Increased risk of infection, brusing, easy bleeding, bleeding gums and epistaxis

Anaemia

80
Q

What is the pathophysiology of bone marrow failure anaemia?

A

Reduction in the number of pluripotential stem cells together with a fault in those remaining, immune reaction against pluripotential stem cells so they can’t repopulate. This can occur in only 1 cell, leading to isolated deficiencies

81
Q

What is the aetiology of bone marrow failure?

A

Congenital, acquired, cytotoxic drugs and infections

82
Q

What is the diagnostic tests for the bone marrow failure?

A

FBC - pancytopenia with low reticulocytes

Bone marrow biopsy: hypocellular marrow with increased fat spaces

83
Q

What is the treatment of bone marrow failure anaemia?

A

Removal of causative agent

Blood and platelet transfusion

BMT or immunosuppressive therapy

84
Q

What are the complications of bone marrow failure anaemia?

A

Increased infections and bleeding

Phase 2A - Haematology (3 decks)

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