Haematology Flashcards

1
Q

What size is classed as macrocytic anaemia?

A

> 100 MCV

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2
Q

What size is classed as normocytic anaemia?

A

80-100 MCV

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3
Q

What size is classed as microcytic anaemia?

A

<80 MCV

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4
Q

What are the symptoms of anaemia?

A
Fatigue 
Lethargy 
Dyspnoea 
Palpitations 
Intermittent claudication 
Angina
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5
Q

What are the signs of anaemia?

A

Pallor

Tachycardia

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6
Q

What investigations should be carried out in suspected anaemia?

A

Blood - WCC, platelets, reticulocyte
Blood film - morphology
B 12, folate and ferritin measures
Bone marrow investigations if indicated.

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7
Q

What are the causes of microcytic anaemia?

A

Iron deficiency
Thalassaemia
Anaemia of chronic disease

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8
Q

What are the causes of iron deficient anaemia?

A

Poor iron intake
Blood loss
Malabsorption
Increased demands - growth or pregnancy.

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9
Q

What are the signs of chronic iron deficiency?

A

Konilionychia - spoon shaped nails
Atrophic glossitis
Brittle hair and nails
Angular cheilosis - ulcers at the sides of the mouth

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10
Q

What test should be carried out to confirm iron deficient anaemia?

A

Blood film - microcytic, anisocytosis (size variation), poikilocytosis (shape variation).
Serum ferritin - low
Reticulocyte count - low

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11
Q

When may ferritin not reveal the true iron content of the blood?

A

Ferritin is an cute phase protein and increases in inflammation. If inflammation is occurring alongside iron deficiency then blood tests may show normal.

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12
Q

How is iron transported in the blood?

A

Transferrin

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13
Q

How do you treat iron deficient anaemia?

A

Oral iron supplementation

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14
Q

What are the side effects of taking iron supplements?

A

GI changes - constipation, diarrhoea, nausea, pain, black stools.

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15
Q

What are the results of investigations carried out in anaemia of chronic disease?

A

Blood film - microcytic/normocytic
Ferritin - normal or raised (due to inflammation)
Serum iron - low

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16
Q

What are the pathophysiological changes that result in anaemia in chronic disease?

A

Poor use of iron in erythropoeisis
Cytokine induced shortening of RBC survival
Decreased production and response to erythropoeitin

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17
Q

Why does thalassaemia result in anaemia?

A

Results in the production of abnormal red blood cells with little oxygen carrying capacity.

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18
Q

What are the three main causes of normocytic anaemia?

A

Acute blood loss
Anaemia of chronic disease
Combined haematinic deficiency (B12 and iron)

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19
Q

What chronic diseases can cause anaemia?

A

CKD
Tuberculosis
Systemic lupus erythematosus
Malignancy

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20
Q

What are the main four causes of macrocytic anaemia?

A

B12 deficiency
Folate deficiency
Alcohol excess/liver disease
Hypothyroidism

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21
Q

Which two causes of macrocytic anaemia are megaloblastic?

A

B12 and folate deficiency

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22
Q

What is megaloblastic anaemia?

A

The production of large abnormal red blood cells by the bone marrow due to inhibition of DNA synthesis by the deficiencies.

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23
Q

Where is folate found?

A

Green vegetables
Liver
Nuts

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24
Q

Where is folate absorbed?

A

Jejunum

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25
Q

What are the causes of folate deficiency?

A

Poor folate intake
Malabsorption
Pregnancy - increased demands
Drugs/alcohol/methotrexate

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26
Q

What are the investigations and results of folate deficiency anaemia?

A

Blood film - macrocytic RBCs, hypersegmented

Serum folate - low

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27
Q

How do you treat folate deficiency anaemia?

A

Folic acid supplementation

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28
Q

Where is B12 found in a diet?

A

Meat, fish and dairy

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29
Q

What are the causes of B12 deficiency?

A

Dietary
Malabsorption
Pernicious anaemia

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30
Q

Where is B12 absorbed and how?

A

Absorbed in the terminal ilium bound to intrinsic factor (produced by parietal cells).

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31
Q

What is pernicious anaemia?

A

Autoimmune atrophic gastritis - resulting in loss of parietal cells and failure of intrinsic factor production.

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32
Q

What are the specific features of B12 deficiency anaemia?

A

Neuropsychiatric - irritability, depression, psychosis

Neurological - paraesthesia.

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33
Q

What are the investigations and results in pernicious anaemia?

A

Blood film - macrocytic, hypersegmented polymorphs
Serum B12 - low
Reticulocytes - low
Serological tests - parietal cell antibody, intrinsic factor antibody.

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34
Q

How do you treat pernicious anaemia?

A

hydroxocobalamin - IM (as no point oral if it can’t be absorbed!)

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35
Q

What are the causes of non-megaloblastic anaemia?

A

Alcohol, liver disease, hypothyroidism, pregnancy.

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36
Q

What is haemolytic anaemia?

A

Premature destruction of RBCs before their 120 day lifespan.

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37
Q

How are RBCs usually broken down?

A

By macrophages in the liver/spleen/bone marrow.

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38
Q

What are the features of haemolytic anaemia?

A

Increased RBC production (raised reticulocytes)
Anaemia (if the destruction cannot be compensated for)
Rise in breakdown products - billirubin, urobilinogen, lactic dehydrogenase

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39
Q

What is the effect of extravascular breakdown?

A

Splenomegaly.

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40
Q

What are the symptoms of clinical presentations of haemolytic anaemia?

A

Standard anaemic symptoms
Gall stones (excess bilirubin)
Jaundice
Splenomegaly

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41
Q

What are the causes of haemolytic anaemia?

A

Autoimmune
Drug induced
Infection
Inherited disorders

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42
Q

What is a specific test for immune mediated haemolytic anaemia?

A

Coombs test

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43
Q

What is aplastic anaemia?

A

Deficiency of all types of blood cells due to bone marrow failure.

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44
Q

What are the symptoms of aplastic anaemia?

A

Anaemic symptoms
Bruise susceptibility
Increased infections

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45
Q

What do investigations show for aplastic anaemia?

A

FBC - pancytopenia
Reticulocyte count - low
Bone marrow biopsy needed.

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46
Q

In what context may polycythaemia be relative?

A

Decreased plasma volume with a normal RBC mass.

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47
Q

What is polycythaemia?

A

Increased concentration of haemoglobin in the blood.

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48
Q

What are the causes of relative polycythaemia?

A

Dehydration

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49
Q

What is the primary cause of polycythaemia?

A

Polycythaemia rubra vera - malignant proliferation of a clone derived from one pluripotent marrow stem cell.

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50
Q

What mutation is often present in polycythaemia rubra vera?

A

JAK2 gene mutation

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51
Q

What are the secondary causes of polycythaemia?

A

Hypoxia
EPO secreting tumours
Poor oxygen delivery

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52
Q

What are the signs of polycythaemia?

A

Plethoric appearance
Hepatosplenomegaly
Thrombosis

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53
Q

What is the treatment for polycythaemia?

A

Low dose aspirin (for high platelets)

Treat cause.

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54
Q

What are two examples of haemaglobinopathies?

A

Sickle cell disease

Thalassaemia

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55
Q

What sis the sickle cell anaemia mutation?

A

Valine –> Glutamine

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56
Q

What type of inheritance is sickle cell anaemia?

A

Autosomal recessive

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57
Q

What is the pathophysiology of the Hb S mutation?

A

When deoxygenation occurs the HbS polymerises and becomes sickle and rigid. This causes it to get stuck in small vessels and causes tissue infarction.

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58
Q

What are the precipitants of a sickle crisis?

A

Cold
Hypoxia
Infection
Dehydration

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59
Q

What are symptoms of a sickle cells crisis?

A

Pain
Dactylitis
Anaemic symptoms
Leg ulcers

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60
Q

What do investigations show for sickle cell anaemia?

A

Blood film - sickling
High reticulocyte count
Hb electrophoresis is diagnostic

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61
Q

What are the normal globin components of a haemoglobin molecule?

A

2 x alpha

2x beta

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62
Q

What is thalassaemia?

A

Decreased production of one of the globin chains in haemoglobin.

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63
Q

What are the pathophysiological consequences of thalassaemia?

A

Ineffective RBC production results in premature haemolysis.

64
Q

What type of mutation causes alpha thalassaemia?

A

Deletion

65
Q

How many genes code for the alpha globin?

A

4

66
Q

How does the severity of alpha thalassaemia change?

A

According to the number of genes affected by the deletion.

67
Q

How many genes code for the beta globin?

A

2

68
Q

What type of mutation causes beta thalassaemia?

A

Spontaneous point mutation.

69
Q

What are two common membranopathies of RBCs?

A

Sphreocytosis

Eliptocytosis

70
Q

What is a membranopathy?

A

A deficiency of a protein required for the RBC membrane. Results in deformed red blood cells.

71
Q

What are two enzymopathies?

A

Glucose-6-phosphate dehydrogensase deficiency

Pyruvate kine deficiency

72
Q

What are the risk factors for thromboembolism/DVT?

A
Age
Obesity
Long haul travel 
Immobility 
Thrombophilia 
Pregnancy 
Surgery
73
Q

What is virchow’s triad?

A

Blood constituents
Blood flow
Endothelial wall

74
Q

What are changes to virchow’s triad that can cause thrombi?

A

Hypercoagubility
Vessel wall injury
Stasis

75
Q

What are the symptoms fo a DVT?

A

Pain
Swelling
Oedema
Discolouration

76
Q

What are the signs of a DVT?

A

Tenderness
Warmth
Erythema
Pitting oedema

77
Q

What investigation can be carried out to test for a DVT?

A

D-dimer
Ultrasound
FBC

78
Q

What can the results of a d-dimer test show?

A

Positive test is sensitive but not specific - can also be raised in infection, malignancy, post op and pregnancy). Negative test means it is not a DVT.

79
Q

What is the treatment for a DVT?

A

LMW heparin

Warfarin

80
Q

What is the action of heparin?

A

Inactivated clotting factor Xa

81
Q

What is the action of warfarin?

A

Inactivates clotting factors 1972 (all the vitamin K dependent ones).

82
Q

What actions can be taken to prevent DVT?

A

Compression stockings
Early mobilisation
Leg elevation
Prophylactic LMWH

83
Q

What is a disseminated intravascular coagulation?

A

Generation of fibrin and consumption of platelets/coagulation factors.

84
Q

What is the consequence of a disseminated intravascular coagulation?

A

Initial thrombosis followed by bleeding.

85
Q

What are the causes of DIC?

A

Malignancy
Trauma
Infection

86
Q

What are the signs of DIC?

A

Bruising
Bleeding
Renal failure

87
Q

What is thrombocytopenia?

A

Low platelet count

88
Q

What are the bone marrow causes of thrombocytopenia?

A

Aplastic anaemia

Marrow infiltration - leukaemia, myeloma

89
Q

What is an autoimmune cause of thrombocytopenia?

A

Immune thrombocytopenic purpura

90
Q

What is Immune thrombocytopenic purpura?

A

Autoimmune destruction of platelets (autoplatelet antibodies).

91
Q

What are the clinical features of thrombocytopenia?

A

Easy bruising
Purpura (blood spots/skin haemorrhages)
Epistaxis (bleeding from nose)

92
Q

What is thrombotic thrombocytopenic purpura?

A

Extensive microvascular clotting causes a low platelet count and organ damage.

93
Q

Name two congenital coagulation disorders.

A

Haemophilia

von Willibrand’s disease

94
Q

What is the deficiency in haemophilia A?

A

Factor 8

95
Q

What is the deficiency in haemophilia B?

A

Factor 9

96
Q

Which type of haemophilia is most common?

A

A

97
Q

What type of inheritance is haemophilia?

A

X-linked recessive

98
Q

What is the presentation of haemophilia?

A

BLEEDING
Into joints - arthropathy
Into muscles - haematomas

99
Q

What investigations should be carried out in suspected haemophilia?

A
PT time (extrinsic system)
Activated prothrombin time (intrinsic system)
Factor assays to find the deficiency
100
Q

How do you manage haemophilia?

A

Give the deficient factor.

101
Q

What is leukaemia?

A

Neoplasm within the bone marrow

102
Q

What are the four types of leukaemia?

A

Acute myeloid leukaemia
Chronic myeloid leukaemia
Acute lymphoblastic leukaemia
Chronic lymphoblastic leukaemia

103
Q

What is the most common acute leukaemia?

A

AML

104
Q

What is the most common chronic leukaemia?

A

CLL

105
Q

Where is the mutation in myeloid leukaemias?

A

At the myeloid progenitor cell and down.

106
Q

Where is the mutation the lymphoblastic leukaemias?

A

At the lymphoid progenitor and down.

107
Q

What are the causes/risk factors for leukaemias?

A

Radiation
Chemicals and drugs
Genetic susceptibility
Viruses

108
Q

What are the signs and symptoms of the acute leukaemias?

A
Anaemia 
Infection
Bleeding 
Hepatosplenomegaly 
Lymphadenopathy (ALL)
CNS involvement (ALL)
Gum hypertrophy (AML)
109
Q

What investigations should be carried out in leukaemia?

A

FBC
Blood film
Bone marrow aspirate

110
Q

What is a characteristic feature of bone marrow aspirate in acute leukaemia?

A

Blast cells

111
Q

What supportive treatments can be given in leukaemia?

A

Blood
Platelets
Fluids
Antibiotics

112
Q

What curative treatment can be offered in leukaemia?

A

Chemotherapy

Bone marrow transplant and steroids

113
Q

What age group doe ALL affect predominantly?

A

Children

114
Q

What age group does AML affect predominantly?

A

Elderly

115
Q

Where is the mutation in chronic lymphocytic leukaemia?

A

B-lymphocytes

116
Q

Where is the mutation in chronic myeloid leukaemia?

A

Myeloid cells

117
Q

How does CLL often present?

A

Often asymptomatic. A surprise on routine FBC.

118
Q

What are possible signs of CLL?

A

lymphadenopathy, infections, hepatosplenomegaly.

119
Q

What does an FBC show for CLL?

A

High lymphocytes

120
Q

What is the progression of CLL?

A

Often very slow

121
Q

What are the treatment options for CLL?

A

Watchful waiting

Radiotherapy for lymphadenopathy etc.

122
Q

What are the symptoms of CML?

A

Weight loss
Tiredness
Fever
Sweats etc.

123
Q

What is the common genetic association for CML?

A

Philadelphia chromosome (present in 80%)

124
Q

What specific treatment options are available in CML?

A

If Philadelphia +ve then monoclonal antibody imatinib can be used.

125
Q

What is a lymphoma?

A

A malignant proliferation of lymphocytes

126
Q

What are the four most common presentations of a lymphoma?

A

Lymphadenopathy
Fever
Sweats
Weight loss

127
Q

What are the two subsets of lymphoma?

A

Hodgkin’s and non-Hodgkin’s

128
Q

How do you investigate a lymphoma?

A

Bloods - FBC, U&E, LFT, blood film.
Lymph node biopsy
Chest X-Ray
CT scan

129
Q

What is the characteristic feature of Hodgkin’s lymphoma?

A

Presence of Reed-Steinberg cells.

130
Q

How do you stage lymphoma?

A

Ann Arbor system

131
Q

What is the most common site of lymphadeonopathy in Hodgkin’s lymphoma?

A

Cervical

132
Q

What is the incidence of Hodgkin’s lymphoma?

A

Two peaks - young adults and elderly.

133
Q

What determines treatment options in Hodgkin’s lymphoma?

A

Its stage. Much better prognosis for low stage cancers.

134
Q

What are the treatment options for Hodgkin’s lymphoma?

A

Radiotherapy
Chemotherapy
Stem cell transplant

135
Q

Where are lymphomas derived from?

A

80% B cell, 20% T cell

136
Q

How do non-Hodgkin’s lymphomas present?

A

Very varied.

137
Q

What is an example of a low-grade non-Hodgkin’s lymphoma? How to treat?

A

Follicular lymphoma - wait+watch/chemo/radio

138
Q

What is an example of a high-grade non-Hodgkin’s lymphoma? How to treat?

A

Diffuse large B cell lymphoma - chemo/radio

139
Q

What is myeloma?

A

Neoplastic proliferation of a single close of bone marrow plasma cells.

140
Q

How does myeloma cause paraproteinaemia?

A

There is a clonal expansion of only one type of plasma cell. Resulting in only one type of antibody being produced.

141
Q

What are the typical antibodies that are proliferated in myeloma?

A

IgG (2/3), IgA (1/3)

142
Q

What can be found in the urine of a person with myeloma?

A

Bence Jones proteins - free Ig light chains that have been filtered by the kidney.

143
Q

What are the symptoms of myeloma?

A

Backache, fractures, vertebral collapse - bone lesions
Symptomatic hypercalcaemia
Recurrent infections
General symptoms - malaise, fatigue, weight loss

144
Q

What investigations should be carried out in myeloma?

A

Serum protein electrophoresis - monoclonal band
Blood film - many plasma cells + deformity
FBC - anaemia, high calcium
X-Rays - show lytic lesions

145
Q

Is myeloma curable?

A

No

146
Q

What are supportive treatments available in myeloma?

A

Bisphosphonates - bone strength
Analgesia
Transfusion
Infection management

147
Q

What are the intensive therapies available in myeloma?

A

Chemotherapy

Radiotherapy

148
Q

What type of mosquito is capable of transmitting malaria?

A

Anopheles

149
Q

What is the most deadly species of malaria protozoa?

A

Plasmodia falciparum

150
Q

Describe the life cycle of the malaria protozoa?

A
1 - into human from the salivary glands of mosquito
2 - Infects liver cell, multiplies 
3 - this is a shizont. It the ruptures.
4 - Enters a RBC and forms a trophozoite
5 - then multiplies in RBC and ruptures
151
Q

How does the lifecycle of the protozoa fit with the symptoms?

A

Cyclical fevers

152
Q

What are the symptoms of malaria?

A
Fever
Sweats 
Black urine 
Malaise
Myalgia
153
Q

What are the signs of malaria?

A

Anaemia
Jaundice
Hepatosplenomegaly
Recent exotic travel!!

154
Q

How to diagnose malaria?

A

Blood films - MULTIPLE

155
Q

What two drugs can be used to treat malaria?

A

Quinine

Doxycyline