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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
What is paraesthesis?
Abnormal sensation of the skin (tingling, pricking, chilling, burning, numbness)
26
What is the pathophysiology of pernicious anaemia?
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
27
What is the aetiology of pernicious anaemia?
Autoimmune destruction of parietal cells/IF
28
What is the epidemiology of pernicious anaemia?
1/10,000 in northern europe Peak age 60
29
What are the diagnostic tests for pernicious anaemia?
Blood film and autoantibody
30
What is found on the blood film for pernicious anaemia?
Macrocytic RBCs
31
What is found on the autoantibody for pernicious anaemia?
IF antibodies
32
What is the role of B12?
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.
33
What is the treatment for pernicious anaemia?
1. Vitamin B12 2. Hydroxocobalamin
34
Why should you not give folic acid to patients with pernicious anaemia?
This leads to fulminant neurological deficit
35
What are the complications of pernicious anaemia?
Heart failure, angina and neuropathy
36
What is G6PD (glucose-6-phosphate dehydrogenase deficiency)?
Lack of enzyme that maintains protective protein against oxidant injury in RBCs
37
What is the clinical presentation of G6PD?
Neonatal jaundice, hemolytic anaemia, acute haemolysis (precipitated by broad beans)
38
What is the pathophysiology of G6PD?
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
What is the aetiology of G6PD?
X linked recessive
40
What is the diagnostic test for G6PD?
Direct measurements of G6PD in RBCs
41
What is the treatment for G6PD?
Avoid fava beans. Transfusion if necessary
42
What is thalassaemia?
Defective subunit of the haemoglobin complex
43
What kind of RBCs do you get in thalassaemia?
Microcytic
44
What are the different types of thalassaemia?
Alpha and beta
45
What is the clinical presentation of thalassaemia?
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
What is the pathophysiology of thalassaemia?
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
What is the aetiology of thalassaemia?
Genetic
48
What is the epidemiology of thalassaemia?
1% carrier of beta, 5% carriers of alpha
49
What is the diagnostic tests for thalassaemia?
Genetic testing and haemoglobin electrophoresis
50
What is the treatment for thalassaemia?
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
What are complications of thalassaemia?
Iron overload and endocrine dysfunction (due to the deposition of the iron in the visceral organs)
52
What is folate deficient anaemia?
Lack of folate
53
What kind of RBCs do you find in folate deficient anaemia?
Macrocytic and megaloblastic
54
What is the clinical presentation of folate deficient anaemia?
Folate deficient - develops over 4 months of deficiency (due to bodily reserve), possibly depression, glossitis Anaemia - fatigue, lethargy, palpitations, headache, dyspnoea, faintness
55
What is the role of folate?
Important in red blood cell formation and for healthy cell growth and function
56
What is the pathophysiology of folate deficient anaemia?
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
What is the aetiology of folate deficient anaemia?
Main cause is poor intake due to dietary deficiency (green leafy, citrus veg and beans, bread cereals) Excessive requirement Impaired uptake Antifolate drugs
58
What are the diagnostic tests for folate deficient anaemia?
FBC: macrocytic and erythrocyte folate level: indicated reduced body stores
59
What is the treatment of folate deficient anaemia?
Folic acid supplements, treat any underlying cause, advise folate supplements during pregnancy
60
What is haemolytic anaemia?
Anaemia due to increased destruction of RBCs
61
What kind of RBCs do you get in haemolytic anaemia?
Normocytic
62
What is the clinical presentation of haemolytic anaemia?
Haemolytic specific - jaundice, gall stones, leg ulcers and signs of underlying cause Anaemia
63
What is the pathophysiology of haemolytic anaemia?
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
What is the aetiology of haemolytic anaemia?
Metabolic defects, autoimmune, mechanical destruction, secondary to systemic disease (liver disease), infection (malaria)
65
What is the epidemiology of haemolytic anaemia?
Depends on underlying condition, sickle cell anaemia, autoimmune disease
66
What are the diagnostic tests for haemolytic anaemia?
Reduced haemoglobin, spherocytes, increased reticulocytosis and increased MCV
67
What is the treatment for haemolytic anaemia?
Folate and iron supplements, immunosuppressive if autoimmune, splenectomy
68
What are the complications of haemolytic anaemia?
Heart failure
69
What is sickle cell anaemia?
Hereditary deformation of RBCs as a result of faulty haemoglobin molecules
70
What is the clinical presentation of haemolytic anaemia?
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
What is the pathophysiology of haemolytic anaemia?
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
What is the aetiology of sickle cell anaemia?
Autosomal recessive condition affecting haemoglobin B subunits
73
What is the epidemiology of sickle cell anaemia?
More common in african populations
74
How does the sickle cell trait protect against malaria?
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
What is the diagnostic test for sickle cell anaemia?
Identified in neonatal screening Blood film: sickled cells
76
What is the treatment for sickle cell anaemia?
Folic acid, pain relief, BMT in severe disease
77
What are the complications of sickle cell anaemia?
Chronic pain
78
What is bone marrow failure "aplastic" anaemia?
Lack of haemopoiesis as a result of bone marrow failure
79
What is the clinical presentation of bone marrow failure anaemia?
Increased risk of infection, brusing, easy bleeding, bleeding gums and epistaxis Anaemia
80
What is the pathophysiology of bone marrow failure anaemia?
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
What is the aetiology of bone marrow failure?
Congenital, acquired, cytotoxic drugs and infections
82
What is the diagnostic tests for the bone marrow failure?
FBC - pancytopenia with low reticulocytes Bone marrow biopsy: hypocellular marrow with increased fat spaces
83
What is the treatment of bone marrow failure anaemia?
Removal of causative agent Blood and platelet transfusion BMT or immunosuppressive therapy
84
What are the complications of bone marrow failure anaemia?
Increased infections and bleeding

Phase 2A - Haematology (3 decks)

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