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
What are the causes of folate deficiency?
Poor folate intake Malabsorption Pregnancy - increased demands Drugs/alcohol/methotrexate
26
What are the investigations and results of folate deficiency anaemia?
Blood film - macrocytic RBCs, hypersegmented | Serum folate - low
27
How do you treat folate deficiency anaemia?
Folic acid supplementation
28
Where is B12 found in a diet?
Meat, fish and dairy
29
What are the causes of B12 deficiency?
Dietary Malabsorption Pernicious anaemia
30
Where is B12 absorbed and how?
Absorbed in the terminal ilium bound to intrinsic factor (produced by parietal cells).
31
What is pernicious anaemia?
Autoimmune atrophic gastritis - resulting in loss of parietal cells and failure of intrinsic factor production.
32
What are the specific features of B12 deficiency anaemia?
Neuropsychiatric - irritability, depression, psychosis | Neurological - paraesthesia.
33
What are the investigations and results in pernicious anaemia?
Blood film - macrocytic, hypersegmented polymorphs Serum B12 - low Reticulocytes - low Serological tests - parietal cell antibody, intrinsic factor antibody.
34
How do you treat pernicious anaemia?
hydroxocobalamin - IM (as no point oral if it can't be absorbed!)
35
What are the causes of non-megaloblastic anaemia?
Alcohol, liver disease, hypothyroidism, pregnancy.
36
What is haemolytic anaemia?
Premature destruction of RBCs before their 120 day lifespan.
37
How are RBCs usually broken down?
By macrophages in the liver/spleen/bone marrow.
38
What are the features of haemolytic anaemia?
Increased RBC production (raised reticulocytes) Anaemia (if the destruction cannot be compensated for) Rise in breakdown products - billirubin, urobilinogen, lactic dehydrogenase
39
What is the effect of extravascular breakdown?
Splenomegaly.
40
What are the symptoms of clinical presentations of haemolytic anaemia?
Standard anaemic symptoms Gall stones (excess bilirubin) Jaundice Splenomegaly
41
What are the causes of haemolytic anaemia?
Autoimmune Drug induced Infection Inherited disorders
42
What is a specific test for immune mediated haemolytic anaemia?
Coombs test
43
What is aplastic anaemia?
Deficiency of all types of blood cells due to bone marrow failure.
44
What are the symptoms of aplastic anaemia?
Anaemic symptoms Bruise susceptibility Increased infections
45
What do investigations show for aplastic anaemia?
FBC - pancytopenia Reticulocyte count - low Bone marrow biopsy needed.
46
In what context may polycythaemia be relative?
Decreased plasma volume with a normal RBC mass.
47
What is polycythaemia?
Increased concentration of haemoglobin in the blood.
48
What are the causes of relative polycythaemia?
Dehydration
49
What is the primary cause of polycythaemia?
Polycythaemia rubra vera - malignant proliferation of a clone derived from one pluripotent marrow stem cell.
50
What mutation is often present in polycythaemia rubra vera?
JAK2 gene mutation
51
What are the secondary causes of polycythaemia?
Hypoxia EPO secreting tumours Poor oxygen delivery
52
What are the signs of polycythaemia?
Plethoric appearance Hepatosplenomegaly Thrombosis
53
What is the treatment for polycythaemia?
Low dose aspirin (for high platelets) | Treat cause.
54
What are two examples of haemaglobinopathies?
Sickle cell disease | Thalassaemia
55
What sis the sickle cell anaemia mutation?
Valine --> Glutamine
56
What type of inheritance is sickle cell anaemia?
Autosomal recessive
57
What is the pathophysiology of the Hb S mutation?
When deoxygenation occurs the HbS polymerises and becomes sickle and rigid. This causes it to get stuck in small vessels and causes tissue infarction.
58
What are the precipitants of a sickle crisis?
Cold Hypoxia Infection Dehydration
59
What are symptoms of a sickle cells crisis?
Pain Dactylitis Anaemic symptoms Leg ulcers
60
What do investigations show for sickle cell anaemia?
Blood film - sickling High reticulocyte count Hb electrophoresis is diagnostic
61
What are the normal globin components of a haemoglobin molecule?
2 x alpha | 2x beta
62
What is thalassaemia?
Decreased production of one of the globin chains in haemoglobin.
63
What are the pathophysiological consequences of thalassaemia?
Ineffective RBC production results in premature haemolysis.
64
What type of mutation causes alpha thalassaemia?
Deletion
65
How many genes code for the alpha globin?
4
66
How does the severity of alpha thalassaemia change?
According to the number of genes affected by the deletion.
67
How many genes code for the beta globin?
2
68
What type of mutation causes beta thalassaemia?
Spontaneous point mutation.
69
What are two common membranopathies of RBCs?
Sphreocytosis | Eliptocytosis
70
What is a membranopathy?
A deficiency of a protein required for the RBC membrane. Results in deformed red blood cells.
71
What are two enzymopathies?
Glucose-6-phosphate dehydrogensase deficiency | Pyruvate kine deficiency
72
What are the risk factors for thromboembolism/DVT?
``` Age Obesity Long haul travel Immobility Thrombophilia Pregnancy Surgery ```
73
What is virchow's triad?
Blood constituents Blood flow Endothelial wall
74
What are changes to virchow's triad that can cause thrombi?
Hypercoagubility Vessel wall injury Stasis
75
What are the symptoms fo a DVT?
Pain Swelling Oedema Discolouration
76
What are the signs of a DVT?
Tenderness Warmth Erythema Pitting oedema
77
What investigation can be carried out to test for a DVT?
D-dimer Ultrasound FBC
78
What can the results of a d-dimer test show?
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
What is the treatment for a DVT?
LMW heparin | Warfarin
80
What is the action of heparin?
Inactivated clotting factor Xa
81
What is the action of warfarin?
Inactivates clotting factors 1972 (all the vitamin K dependent ones).
82
What actions can be taken to prevent DVT?
Compression stockings Early mobilisation Leg elevation Prophylactic LMWH
83
What is a disseminated intravascular coagulation?
Generation of fibrin and consumption of platelets/coagulation factors.
84
What is the consequence of a disseminated intravascular coagulation?
Initial thrombosis followed by bleeding.
85
What are the causes of DIC?
Malignancy Trauma Infection
86
What are the signs of DIC?
Bruising Bleeding Renal failure
87
What is thrombocytopenia?
Low platelet count
88
What are the bone marrow causes of thrombocytopenia?
Aplastic anaemia | Marrow infiltration - leukaemia, myeloma
89
What is an autoimmune cause of thrombocytopenia?
Immune thrombocytopenic purpura
90
What is Immune thrombocytopenic purpura?
Autoimmune destruction of platelets (autoplatelet antibodies).
91
What are the clinical features of thrombocytopenia?
Easy bruising Purpura (blood spots/skin haemorrhages) Epistaxis (bleeding from nose)
92
What is thrombotic thrombocytopenic purpura?
Extensive microvascular clotting causes a low platelet count and organ damage.
93
Name two congenital coagulation disorders.
Haemophilia | von Willibrand's disease
94
What is the deficiency in haemophilia A?
Factor 8
95
What is the deficiency in haemophilia B?
Factor 9
96
Which type of haemophilia is most common?
A
97
What type of inheritance is haemophilia?
X-linked recessive
98
What is the presentation of haemophilia?
BLEEDING Into joints - arthropathy Into muscles - haematomas
99
What investigations should be carried out in suspected haemophilia?
``` PT time (extrinsic system) Activated prothrombin time (intrinsic system) Factor assays to find the deficiency ```
100
How do you manage haemophilia?
Give the deficient factor.
101
What is leukaemia?
Neoplasm within the bone marrow
102
What are the four types of leukaemia?
Acute myeloid leukaemia Chronic myeloid leukaemia Acute lymphoblastic leukaemia Chronic lymphoblastic leukaemia
103
What is the most common acute leukaemia?
AML
104
What is the most common chronic leukaemia?
CLL
105
Where is the mutation in myeloid leukaemias?
At the myeloid progenitor cell and down.
106
Where is the mutation the lymphoblastic leukaemias?
At the lymphoid progenitor and down.
107
What are the causes/risk factors for leukaemias?
Radiation Chemicals and drugs Genetic susceptibility Viruses
108
What are the signs and symptoms of the acute leukaemias?
``` Anaemia Infection Bleeding Hepatosplenomegaly Lymphadenopathy (ALL) CNS involvement (ALL) Gum hypertrophy (AML) ```
109
What investigations should be carried out in leukaemia?
FBC Blood film Bone marrow aspirate
110
What is a characteristic feature of bone marrow aspirate in acute leukaemia?
Blast cells
111
What supportive treatments can be given in leukaemia?
Blood Platelets Fluids Antibiotics
112
What curative treatment can be offered in leukaemia?
Chemotherapy | Bone marrow transplant and steroids
113
What age group doe ALL affect predominantly?
Children
114
What age group does AML affect predominantly?
Elderly
115
Where is the mutation in chronic lymphocytic leukaemia?
B-lymphocytes
116
Where is the mutation in chronic myeloid leukaemia?
Myeloid cells
117
How does CLL often present?
Often asymptomatic. A surprise on routine FBC.
118
What are possible signs of CLL?
lymphadenopathy, infections, hepatosplenomegaly.
119
What does an FBC show for CLL?
High lymphocytes
120
What is the progression of CLL?
Often very slow
121
What are the treatment options for CLL?
Watchful waiting | Radiotherapy for lymphadenopathy etc.
122
What are the symptoms of CML?
Weight loss Tiredness Fever Sweats etc.
123
What is the common genetic association for CML?
Philadelphia chromosome (present in 80%)
124
What specific treatment options are available in CML?
If Philadelphia +ve then monoclonal antibody imatinib can be used.
125
What is a lymphoma?
A malignant proliferation of lymphocytes
126
What are the four most common presentations of a lymphoma?
Lymphadenopathy Fever Sweats Weight loss
127
What are the two subsets of lymphoma?
Hodgkin's and non-Hodgkin's
128
How do you investigate a lymphoma?
Bloods - FBC, U&E, LFT, blood film. Lymph node biopsy Chest X-Ray CT scan
129
What is the characteristic feature of Hodgkin's lymphoma?
Presence of Reed-Steinberg cells.
130
How do you stage lymphoma?
Ann Arbor system
131
What is the most common site of lymphadeonopathy in Hodgkin's lymphoma?
Cervical
132
What is the incidence of Hodgkin's lymphoma?
Two peaks - young adults and elderly.
133
What determines treatment options in Hodgkin's lymphoma?
Its stage. Much better prognosis for low stage cancers.
134
What are the treatment options for Hodgkin's lymphoma?
Radiotherapy Chemotherapy Stem cell transplant
135
Where are lymphomas derived from?
80% B cell, 20% T cell
136
How do non-Hodgkin's lymphomas present?
Very varied.
137
What is an example of a low-grade non-Hodgkin's lymphoma? How to treat?
Follicular lymphoma - wait+watch/chemo/radio
138
What is an example of a high-grade non-Hodgkin's lymphoma? How to treat?
Diffuse large B cell lymphoma - chemo/radio
139
What is myeloma?
Neoplastic proliferation of a single close of bone marrow plasma cells.
140
How does myeloma cause paraproteinaemia?
There is a clonal expansion of only one type of plasma cell. Resulting in only one type of antibody being produced.
141
What are the typical antibodies that are proliferated in myeloma?
IgG (2/3), IgA (1/3)
142
What can be found in the urine of a person with myeloma?
Bence Jones proteins - free Ig light chains that have been filtered by the kidney.
143
What are the symptoms of myeloma?
Backache, fractures, vertebral collapse - bone lesions Symptomatic hypercalcaemia Recurrent infections General symptoms - malaise, fatigue, weight loss
144
What investigations should be carried out in myeloma?
Serum protein electrophoresis - monoclonal band Blood film - many plasma cells + deformity FBC - anaemia, high calcium X-Rays - show lytic lesions
145
Is myeloma curable?
No
146
What are supportive treatments available in myeloma?
Bisphosphonates - bone strength Analgesia Transfusion Infection management
147
What are the intensive therapies available in myeloma?
Chemotherapy | Radiotherapy
148
What type of mosquito is capable of transmitting malaria?
Anopheles
149
What is the most deadly species of malaria protozoa?
Plasmodia falciparum
150
Describe the life cycle of the malaria protozoa?
``` 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
How does the lifecycle of the protozoa fit with the symptoms?
Cyclical fevers
152
What are the symptoms of malaria?
``` Fever Sweats Black urine Malaise Myalgia ```
153
What are the signs of malaria?
Anaemia Jaundice Hepatosplenomegaly Recent exotic travel!!
154
How to diagnose malaria?
Blood films - MULTIPLE
155
What two drugs can be used to treat malaria?
Quinine | Doxycyline