Haematology 🩸 Flashcards
1
Q
What does normal haemoglobin consist of?
A
Two alpha-globin chainsand two beta-globin chains
2
Q
What is alpha thalassaemia?
A
Defects in alpha-globin chains
3
Q
What is beta thalassaemia?
A
Defects in beta-globin chains
4
Q
What type of anaemia does thalassaemia lead to?
A
Microcytic anaemia
5
Q
What is the mode of inheritance of thalassaemia?
A
Autosomal recessive
6
Q
What is HbA?
A
Normal haemoglobin
- Two alpha chains and two beta chains
7
Q
What is HbA2?
A
Two alpha chains and two delta chains
found at low levels in normal human blood. Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene.
8
Q
What is HbF?
A
Fetal haemoglobin
- Two alpha chains and two gamma chains
9
Q
What genes are responsible for alpha chain synthesis?
A
4 alleles on chromosome 16
10
Q
What genes are responsible for beta chain synthesis?
A
2 alleles on chromosome 11
11
Q
What three types of beta thalassaemia exist?
A
Thalassaemia minor
Thalassaemia intermedia
Thalassaemia major
12
Q
What is thalassaemia minor?
A
Patients have one abnormal and one normal gene
This causes mild microcytic anaemia
13
Q
What is thalassaemia intermedia?
A
Patients have two abnormal copies of the beta-globin gene:
- Two defective genes or one defective and one deletion
14
Q
What is the presentation of thalassaemia intermedia?
A
More significant microcytic anaemia that may need occasional blood transfusions
15
Q
What is thalassaemia major?
A
Patients are homozygous for the deletion genes
- They have no functioning beta globin genes
16
Q
Why do bone changes occur in thalassaemia major?
A
The bone marrow is under strain to produce extra red blood cells to compensate for chronic anaemia
- This causes the bone to expand
17
Q
What bone changes may occur in thalassaemia major? (3)
A
Frontal bossing - prominent forehead
Enlarged maxilla - prominent cheekbones
Depressed nasal bridge
Protuding upper teeth
18
Q
What are the first line investigations for thalassaemia?
A
FBC - microcytic anaemia
Blood film - microcytic hypochromic erythrocytes, as well as target cells
19
Q
What is the diagnostic test for thalassaemia?
A
Hb electrophoresis
20
Q
What is the management of thalassaemia major? (4)
A
Regular blood transfusions
Iron chelation (desferrioxamine-to prevent iron overload due to transfusions)
Folate supplementation
Stem cell transplant
21
Q
What is polycythemia?
A
A high concentration of red blood cells in the blood
22
Q
What is polycythemia vera?
A
A myeloproliferative disorder that leads to an increase in red cell volume, often accompanied by an increase in neutrophils and platelets
23
Q
What genetic mutation is polycythemia vera associated with?
A
JAK2 mutation
24
Q
What are the features of polycythemia vera? (5)
A
Pruritus
Splenomegaly
Hypertension
Arterial and venous thrombosis
Haemorrhage due to abnormal platelet function
Low ESR
25
What investigations are used in the diagnosis of polycythemia vera? (5)
JAK2 mutation testing
Full blood count
Blood film
Serum ferritin
U&E
LFTs
Bone marrow biopsy
26
What is the diagnostic criteria for JAK2 positive polycythemia?
Mutation in JAK2
High haematocrit (>0.52 in men, >0.48 in women)
Haematocrit= % of RBCs in blood
27
What is the management of polycythemia vera?
Venesection to keep Hb in range
Aspirin
Chemotherapy to control disease
28
What haematological cancer is polycythemia rubra vera associated with?
Acute myeloid leukaemia
29
What is myeloma?
Myeloma is a haematological cancer affecting the plasma cells of the bone marrow
30
What are plasma cells?
Differentiated B lymphocytes that produce antibodies
31
What is multiple myeloma?
Myeloma that affects multiple areas of bone marrow in the body
32
What is produced in myeloma?
Large amounts of a paraprotein (or M protein)
33
What are paraproteins in myeloma?
Abnormal antibodies or parts of antibodies produced by rapidly multiplying plasma cells
34
What are Bence-Jones proteins?
Free light chains in the urine
35
What are the features of multiple myeloma?
CRABBI
- Hypercalcaemia
- Renal failure
- Anaemia
- Bone lesions and bone pain
- Bleeding
- Infection
36
What is the main reason for renal failure in myeloma?
Light chains are deposited within the renal tubules
37
Why does anaemia occur in multiple myeloma?
Crowding of the bone marrow suppresses erythropoeisis
38
What kind of anaemia is seen in multiple myeloma?
Normocytic, normochromic anaemia
39
What are the risk factors for myeloma? (3)
Older age
Male
Black ethnic origin
Family history
Obesity
40
What investigations are useful in the diagnosis of myeloma? (5)
FBC - anaemia, leukopenia
Calcium - raised
ESR - increased
Plasma viscosity - increased
U&E - renal impairment
Urine protein electrophoresis - Bence-jones proteins
Serum protein electrophoresis
41
What investigation is used to confirm the diagnosis of myeloma?
Bone marrow biopsy
42
What imaging is used in myeloma to assess for bone lesions?
First choice - whole body MRI
Second choice - whole body low-dose CT
Third choice - Skeletal survery (XR of whole body)
43
What XR findings are consitent with myeloma?
Well-defined lytic lesions
Diffuse osteopenia
Abnormal fractures
44
What is involved in the management of myeloma? (5)
Chemotherapy
Stem cell transplant
Bisphosphonates
Radiotherapy
Orthopaedic surgery
45
What is hodgkin lymphoma?
Lymphoma is a cancer affecting the lymphocytes of the lymphatic system
46
What is the age distribution of patients with Hodgkin lymphoma?
Bimodal - 15-35 years and >60 years
47
What are the risk factors for Hodgkin lymphoma? (3)
HIV
EBV
Family history
Autoimmune disorders
48
What are the symptoms of Hodgkin lymphoma?
Painless lymphadenopathy
B symtpoms:
- Fever
- Weight loss
- Night sweats
Alcohol induced lymph node pain
Pruritus
49
What initial investigations are performed in suspected Hodgkin lymphoma?
FBC - leukocytosis
LDH - elevated
Ultrasound of lymph nodes
50
What investigation is diagnostic of Hodgkin lymphoma?
Excisional lymph node biopsy
51
What cells are seen in Hodgkin lymphoma but not non-hodgkin lymphoma?
Reed-Sternberg cells
52
What is the ann-arbor staging of hodgkin lymphoma?
Stage 1 - single lymph node
Stage 2 - Two or more lymph nodes on the same side of the diagphragm
Stage 3 - lymph nodes on both sides of the diaphragm
Stage 4 - involvement of one or more extralymphatic organs
A - no systemic symptoms
B - B symptoms present
53
What is the management of hodgkin lymphoma?
Chemotherpy
Radiotherapy (often administered after chemo - called combined modality therapy)
54
What regimens of chemotherapy are commonly used for hodgkin lymphoma?
ABVD - doxorubicin, bleomycin, vinblastine and dacarbazine
BEACOPP - bleomycin, etoposide, adriamycin, cyclophosphamide, oncovin, procarbazine, prednisolone
55
What are the complications of hodgkin lymphoma treatment? (3)
Myelosuppression
Neutropenic sepsis
Tumour lysis syndrome
56
What investigation is used to stage Hodgkin's lymphoma?
PET/CT scan
57
What type of lymphoma is associated with EBV?
Burkitt's lymphoma
58
What complication of treatment is associated with Burkitt's lymphoma?
Tumour lysis syndrome
59
What are the risk factors for non-hodgkin lymphoma? (3)
Over 50 years
Male
HIV
EBV
H. Pylori - associated with MALT lymphoma
Autoimmune conditions - Hashimoto's and Sjogren's
60
What are the symptoms of non-hodgkin lymphoma?
B symptoms
- Fever
- Weight loss
- Night sweats
Painless lymphadenopathy
Splenomegaly - more common in NHL compared to HL
61
What initial investigations can be performed in suspected NHL?
FBC - leukocytosis
Blood film
LDH and uric acid - raised
Ultrasound of lymph nodes
62
What is the diagnostic investigation for NHL?
Excisional lymph node biopsy
63
What is the management of NHL?
Low grade B cell lymphoma
- Radiotherapy
High grade B cell lymphoma
- Chemotherapy
64
What chemotherapy regimes are often used in the treatment of NHL?
R-CHOP
- Rituximab, cyclophosphamide, doxorubicin, vincristine, prednisolone
R-CVP
- Rituximab, cyclophosphamide, vincristine, prednisolone
RCODOX-M
- Rituximab, cyclophosphamide, doxorubicin, vincristine, methotrexate q
65
What is disseminated intravascular coagulation?
Simultaneous activation of coagulation and fibrinolysis, leading to microvascular thrombosis and subsequent consumption of clotting factors and platelets
66
What conditions are associated with DIC? (4)
Sepsis
Malignancy
Trauma
Obstetric complications
Acute haemolytic transfusion reactions
Organ transplant rejections
67
What are the symptoms of DIC? (5)
Bleeding from wounds
Haematuria or haematochezia
Epistaxis
Dyspnoea
Chest pain
68
What are the clinical signs of DIC?
Petechiae
Prolonged bleeding
Altered mental status
Focal neurological deficits
69
What investigations are used in the diagnosis of DIC?
FBC - thrombocytopenia
Clotting studies - prolonged PT and aPTT
Fibrinogen levels - decreased levels
D- dimer - elevated
Blood cultures - identifying and treating underlying cause
70
What is the first line management of DIC?
Treating underlying cause
Blood product transfusion
- Packed red blood cells
- Fresh frozen plasma
- Platelets
Anticoagulants
- Low dose heparin in severe cases with predominant thrombotic features
71
What is the second line treatment of DIC?
Recombinant activated protein C
72
What are the complications of DIC?
Intracranial bleeding
Life-threatening haemorrhage
Multi-organ failure
Gangrene
73
What are Haemophilia A and B?
They are severe inherited bleeding disorders
74
What is the mode of inheritance of haemophilia?
X-linked recessive
75
What clotting factor are those with haemophilia A deficient in?
Factor VIII
76
What clotting factor are those with haemophilia B deficient in?
Factor IX
77
What is the presentation of haemophilia?
Spontaneous bleeding
Excessive bleeding
Easy bruising
Fatigue
Haemarthrosis - spontaneous bleeding into joints
Cutaneous purpura
78
What investigations are used in the diagnosis of haemophilia?
aPTT - usually prolonged
Plasma factor VIII and IX levels - decreased or absent
Mixing study - mixing patients plasma with normal plasma corrects aPTT
FBC
Prothrombin time - usually normal
Plasma vWF - to exclude von willebrand disease
LFTs - excluse liver disease as a cause of deficient coagulation
79
What is the management of mild to moderate haemophilia with no active bleeding?
Patient education
Avoidance of high risk activity
Joint strengthening exercises
80
What are common sites of bleeding in haemophilia?
Oral mucosa
Epistaxis
GI tract
Urinary tract - haematuria
Intracranial haemorrhage
Surgical wounds
81
What is the management of severe haemophilia with no active bleeding?
Prophylactic clotting factors
- IV replacement given at least 45 weeks of the year
82
What is the management of acute haemorrhage in haemophilia?
ABCDE
Urgent input from haematology and relevant specialty
Urgent clotting factor administration
Antifibrinolytics - tranexamic acid
Desmopressin
83
What is the complication of treatment with clotting factors?
Antibodies to the clotting factors can form, resulting in the treatment becoming ineffective
84
What clotting pathway does PT measure?
Extrinsic pathway
85
What clotting pathway does APTT measure?
Intrinsic pathway
86
What clotting factors are involved in the intrinsic pathway?
Factor VIII, vWF, IX and XI
87
Which conditions may result in an abnormal APTT?
Haemophilia A
Haemophilia B
Haemophilia C
von Willebrands disease
88
What are the types of leukaemia?
Acute myeloid leukaemia
Acute lymphoblastic leukaemia
Chronic myeloid leukaemia
Chronic lymphocytic leukaemia
89
What is the most common leukaemia in children?
ALL
90
What is the presentation of leukaemia?
Fatigue
Fever
Pallor
Petechiae
Bruising
Abnormal bleeding
Lymphadenopathy
Hepatosplenomegaly
91
What are the top differentials for a non-blanching rash?
Leukaemia
Meningococcal septicaemia
Vasculitis
Henoch Schonlein purpura
ITP
Thrombotic thrombocytopenic purpura
Traumatic or mechanical
Non-accidental injury
92
What is the initial investigation performed in suspected leukaemia?
FBC - within 48 hours
93
What other investigations are used to confirm the diagnosis of leukaemia?
Bone marrow biopsy - definitive investigation
Blood film
CT and PET scans - to stage condition
Lymph node biopsy - assess lymph node spread
94
What is ALL?
ALL affects one of the lymphocyte precursor cells, and usually causes acute proliferation of B lymphocytes
95
What is chronic lymphocytic leukaemia?
Slow proliferation of well-differentiated lymphocytes - usually B-lymphocytes
96
What is Richter's transformation?
CLL can transform in high-grade B cell lymphoma
97
What is associated with CLL on blood film?
Smear or smudge cells
98
What are the stages of chronic myeloid leukaemia?
Chronic phase - asymptomatic
Accelerated phase - abnormal blast cells take up a high proportion of the bone marrow and blood cells
Blast phase - involved an even higher proportion of blast cells in the blood (over 20%)
99
What finding is associated with chronic myeloid leukaemia?
Philadelphia chromosome
100
What is the Philadelphia chromosome?
An abnormal chromosome 22, caused by a reciprocal translocation of genetic material between chromosomes 9 and 22
101
What is a characteristic finding in acute myeloid leukaemia?
Auer rods
102
What is the management of acute lymphoid leukaemia?
Pre-phase
- 5-7 days of corticosteroids
Induction
- 4-8 week of corticosteroid or chemotherapy
Consolidation
- Up to 1 year of high dose chemotherapy
Maintenance
- 2 years of mercaptopurine and methotrexate therapy
103
What is the management of acute myeloid leukaemia?
Induction
- Combination of cytarabine and anthracycline
Consolidation
- Further chemotherapy is offered
Stem cell transplant
104
What is the treatment of chronic myeloid leukaemia?
First line - tyrosine kinase inhibitors
Chronic or accelerated phase:
- Tyrosine kinase inhibitor
- Combine with interferon alpha
Blast phase:
- Tyrosine kinase inhibitor plus high dose chemotherapy
- Followed by stem cell transplantation
105
What are the complications of chemotherapy?
Failure to treat cancer
Stunted growth and development in children
Infections due to immunosuppression
Neurotoxicity
Infertility
Secondary malignancy
Cardiotoxicity
Tumour lysis syndrome
106
What electrolyte abnormalities are seen in tumour lysis syndrome?
High uric acid
High potassium
High phosphate
Low calcium
107
What is the difference between AML and CML on blood work?
AML - thrombocytopenia, neutropenia
CML - high platelets and neutrophils
108
What is haemochromatosis?
An autosomal dominant genetic condition, resulting in iron overload
109
What gene causes haemochromatosis?
The human haemochromotosis protein (HFE) gene, located on chromosome 6
110
What is the pathophysiology of haemochromatosis?
Unregulated absorption of iron from the gut results in iron overload - this is deposited in multiple tissues
111
Where is iron commonly deposited in haemochromatosis?
Liver
Pancreas
Heart
112
When does haemochromatosis usually present?
Usually presents after age 40
Can present later in females due to menstruation
113
What is the presentation of haemochromatosis?
Chronic tiredness
Joint pain
Pigmentation (bronze skin)
Testicular atrophy
Erectile dysfunction
Loss of libido
Amenorrhoea
Hepatomegaly
Memory and mood disturbance
114
What is the initial investigation for diagnosis of haemochromatosis?
Serum ferritin - raised
Serum transferrin saturation - raised
Serum iron - raised
115
What are the common causes of a raised ferritin?
Haemochromatosis
Infections
Chronic alcohol consumption
NAFLD
Hepatitis C
Cancer
116
What other blood tests may be deranged in haemochromatosis?
LFTs
HbA1c (due to damage to pancreatic beta cells)
FBC
117
What other investigations may be useful in diagnosis of haemochromatosis?
Genetic testing for mutations in HFE gene
Liver biopsy with Perl's stain
MRI
118
What are the complications of haemochromatosis?
Secondary diabetes
Liver cirrhosis
Endocrine and sexual problems
Cardiomyopathy
HCC
Hypothyroidism
Chondrocalcinosis
119
What is the management of haemochromatosis?
Venesection - removing 500ml of blood weekly until serum ferritin levels are 20-30, and transferrin saturation <50%
120
What is the presentation of a non-haemolytic febrile reaction?
Fever
Chills
121
What is the management of a non-haemolytic febrile reaction?
Slow or stop the transfusion
Paracetamol
Monitor
122
What is the presentation of a minor allergic reaction to transfusion?
Pruritis
Urticaria
123
What is the management of a minor allergic reaction to a transfusion?
Temporarily stop the transfusion
Antihistamine
Monitor
124
What is the management of anaphylaxis following transfusion?
Stop the transfusion
IM adrenaline
A to E assessment and management
125
What is the presentation of an acute haemolytic reaction to transfusion?
Starts minutes after the transfusion is started
Fever
Abdominal pain
Hypotension
Agitation
126
What is the management of an acute haemolytic reaction to a transfusion?
Stop transfusion
Check patient has been given right blood
Send blood for direct coombs test, repeat typing and cross-matching
Fluid resuscitation
127
What is the presentation of transfusion-associated circulatory overload?
Pulmonary oedema
Hypertension
Respiratory distress
128
What is the management of transfusion-associated circulatory overload?
Slow or stop transfusion
Consider IV loop diuretics and oxygen
129
What is the presentation of transfusion-related acute lung injury?
Hypoxia
Fever
Hypotension
Pulomnary infiltrates on CXR
130
What is the management of transfusion-related acute lung injury?
Stop the transfusion
Oxygen
131
What is transfusion related acute lung injury?
Non-cardiogenic pulmonary oedema due to activation of immune cells in the lung
132
What is the typical transfusion threshold?
Hb of 70 g/L
133
What is the transfusion threshold for patients with ACS?
Hb of 80 g/L
134
What is the aetiology of iron deficiency anaemia?
Dietary insufficiency
Chronic blood loss
Malabsorption disorders
Increased demand
135
What are the signs and symptoms of iron deficiency anaemia?
Tiredness
Lethargy
Weakness
Palpitations
Cold intolerance
Headaches and dizziness
Brittle nails
Angular stomatitis
Atrophic glossitis
136
What are the differentials of iron deficiency anaemia?
Colorectal malignancy
Thalassaemia
Chronic inflammatory conditions
137
What investigations are used in the diagnosis of iron deficiency anaemia?
FBC - microcytic anaemia
Total iron binding capacity - high
Ferritin - low
Blood film
- Hypochromic, microcytic red cells
- Additional pencil cells
- Occasional target cells
138
What is the management of iron deficiency anaemia?
Oral or IV iron supplements
Dietary modifications
139
What are the side effects of oral iron supplementation?
Diarrhoea
Constipation
Black stools
Abdominal pain
Nausea
140
How should iron supplements be taken?
Iron supplements should be taken on an empty stomach, with a drink containing vitamin C to aid absorption
141
What is G6PD deficiency?
An X-linked disorder that causes an inability of the RBC membrane to deal with oxidative stress, leading to haemolysis
142
What is the inheritance of G6PD deficiency?
X-linked recessive
143
What is the pathophysiology of G6PD deficiency?
A mutation in the G6PD enzyme makes RBCs more vulnerable to damage by reactive oxygen species. This leads to haemolysis
144
What is the presentation of G6PD deficiency?
Anaemia
Jaundice
Gallstones
Splenomegaly
Dark urine
Fatigue and weakness
145
What are common triggers for G6PD deficiency?
Medications
Infections
Fava beans
Chemical exposure - naphthalene and aniline dyes
Mental and physical stress
146
What medications commonly trigger G6PD deficiency?
Antibiotics - trimethoprim, ciprofloxacin, nitrofurantoin
Aspirin
NSAIDs
Dapsone
Vitamin K analogues
Antimalarials
Sulfasalazine
Sulfonylureas
147
What are the differentials of G6PD deficiency?
Autoimmune haemolytic anaemia
Hereditary spherocytosis
Thalassaemia
148
What is seen on blood film in G6PD deficiency?
Heinz bodies
149
What investigations are used in the diagnosis of G6PD deficiency?
Blood film
G6PD enzyme activity assay - definitive investigation (should be carried out 3 months after acute episode)
150
What is the management of G6PD deficiency?
Avoiding triggers
Supportive care during acute haemolytic episode - hydration, analgesia
Blood transfusions in severe cases
Monitoring of Hb
151
What are the complications of G6PD deficiency?
Acute haemolysis
Chronic anaemia
Susceptibility to infections
152
What is hereditary spherocytosis?
A condition where the RBCs are sphere shaped, making them fragile and easily destroyed when passing through the spleen
153
What is the presentation of hereditary spherocytosis?
Jaundice
Anaemia
Gallstones
Splenomegaly
Fatigue
Dizziness
Palpitations
154
What is the inheritance pattern of hereditary spherocytosis?
Autosomal dominant
155
What is the pathophysiology of hereditary spherocytosis?
Due to defects in the RBC membrane proteins, the RBCs appear spherical.
There is accelerated degradation of RBCs in the spleen, resulting in a normocytic anaemia.
156
Why does splenomegaly occur in hereditary spherocytosis?
The spleen has to work harder in order to clear out the abnormal RBCs and their products
157
What is the criteria for diagnosis of hereditary spherocytosis?
Family history of HS
and
Typical clinical features
and
Positive laboratory investigations
158
What investigations are used in the diagnosis of hereditary spherocytosis?
FBC
Blood film - spherocytosis
LFTs - raised bilirubin
Coombs test - negative (differentiates from autoimmune haemolytic anaemia)
159
What FBC results would be seen in hereditary spherocytosis?
Normocytic anaemia
Increased reticulocytes
Raised MCHC
160
What is the management of hereditary spherocytosis?
Folate supplementation
Splenectomy
Transfusion may be required during acute crises
161
What is hereditary elliptocytosis?
Similar to hereditary spherocytosis - except RBCs are ellipse shape (similar presentation and management)
162
What is TTP?
Small emboli that develop throughout the small vessels, using up platelets
163
What is the pathophysiology of TTP?
Congenital deficiency or autoimmune attack of ADAMTS13 protease leading to platelet aggregation and activation of clotting
Microemboli formation leads to platelet consumption and haemolytic anaemia
164
What are the causes of TTP?
Post-infection
Pregnancy
Drugs
- Ciclosporin
- COCP
- Penicillin
- Clopidogrel
- Aciclovir
Tumours
SLE
HIV
165
What is the pentad of features in TTP?
Thrombocytopenic purpura
Microangiopathic haemolytic anaemia
Neurological dysfunction
Renal dysfunction
Fever
166
What is the presentation of TTP?
Confusion
Seizures
Headache
Bleeding
Chest pain
Abdominal pain
Jaundice
167
What is the diagnostic investigation for TTP?
ADAMTS13 activity - will be low
168
What investigations are useful in the diagnosis of TTP?
Urine dipstick - haematuria and proteinuria
FBC - normocytic anaemia
Clotting is typically normal
Blood film - schistocytes
LDH - raised in haemolysis
U&Es - raised creatinine (AKI)
169
What is the management of TTP?
FFP - fresh frozen plasma (containing vWF-cleaving protease and complement components)
Plasma exchange
Corticosteroids - prednisolone or methylprednisolone
170
What mode of inheritance is sickle cell anaemia?
Autosomal recessive
171
What is the pathophysiology of sickle cell anaemia?
Red blood cells become sickle shaped, which makes them more fragile and easily destroyed, leading to haemolytic anaemia
172
Which chain of haemoglobin does sickle cell anaemia affect?
Beta chain
173
What is a vaso-occlusive crisis?
Red blood cells stick together and cause ischaemia of tissues - results in pain
174
What is acute chest syndrome?
A vaso-occlusive crisis resulting in infarction of the lung parenchyma
175
What is the management of a vaso-occlusive crisis?
Strong analgesia
Oxygen
IV fluids
Treat any suspected infections
Keep warm
176
What is an aplastic crisis?
Where there are life threateningly low levels of reticulocytes
Characteristed by tachypnoea and tachycardia in the absence of splenomegaly
177
What type of haemoglobin do patients with sickle cell have?
HbS
178
What are the complications of sickle cell anaemia?
Increased risk of infection
CKD
Anaemia
Sickle cell crises
Acute chest syndrome
Stroke
Avascular necrosis
Priapism
Pulmonary hypertension
179
What can a vaso-occlusive crisis be triggered by?
Infection
Cold weather
Dehydration
Stress
180
What is a splenic sequestration crisis?
Sickle cells block the bloodflow to the spleen which causes an acutely large and painful spleen
181
What infection can trigger an aplastic crisis?
Parvovirus B19
182
What is the management of an acute chest crisis?
Analgesia
Hydration (IV fluids)
Antibiotics/antivirals to treat infection
Blood transfusion for anaemia
Incentive spirometry
Oxygen or ventilation
183
What is incentive spirometry?
A device which encourages effective and deep breathing
184
What is the general management of sickle cell anaemia?
Avoid crisis triggers
Up to date vaccinations
Antibiotic prophylaxis - phenoxymethylpenicillin
Hydroxycarbamide
Blood transfusions for anaemia
Bone marrow transplant (can be curative)
185
What is the action of hydroxycarbamide?
Increased fetal haemoglobin (HbF)
186
What is a splenic sequestration crisis?
RBCs blocking blood flow within the spleen causes an acutely enlarged and painful spleen
When blood pools in the spleen, it can lead to severe anaemia and hypovolaemic shock
187
What is the most serious complication of a splenic sequestration crisis?
Splenic infarction
- Leads to hyposplenism
188
What is the definitive investigation for diagnosis of sickle cell disease?
Haemoglobin electrophoresis
189
What type of anaemia is seen in sickle cell anaemia?
Normocytic anaemia, with raised reticulocytes
190
What is myelofibrosis?
A myeloproliferative disorder that causes the replacement of bone marrow tissue with fibrous tissue
191
What genetic mutations is myelofibrosis associated with?
JAK2
CALR
MPL (myeloproliferative leukaemia virus oncogene)
192
What is the clinical presentation of myelofibrosis?
Weight loss
Fever
Night sweats
Anaemia
Recurrent infection
Bleeding/bruising
Bone pain
Splenomegaly
Hepatomegaly
193
Why do hepatomegaly and splenomegaly occur in myelofibrosis?
Because the bone marrow cannot produce new cells, the liver and spleen attempt to make more blood cells instead
194
What are the laboratory findings in myelofibrosis?
Anaemia
High WBC
High platelets early in disease, then pancytopenia
'Tear drop' poikilocytes
Leucoerythroblastic blood film
Unobtainable bone marrow biopsy
High urate and LDH
195
What is the management of myelofibrosis?
Allogenic stem cell transplantation
JAK-2 inhibitors
Cytotoxic agents
Splenectomy
196
What leukaemia is associated with myelofibrosis?
Acute myeloid leukaemia (20% of those with myelofibrosis develop AML)
197
What is autoimmune haemolytic anaemia?
RBC destruction that is triggered by autoantibodies
198
What are the two types of autoimmune haemolytic anaemia?
Warm
Cold
199
What is warm AIHA?
The autoantibodies cause haemolysis best at body temperature - haemolysis occurs in extravascular sites
200
What type of antibodies are commonly seen in warm AIHI?
IgG
201
What are the causes of warm AIHA?
Idiopathic - most common
Autoimmune disease - SLE
Lymphoma
CLL
Drugs - methyldopa
202
What is the first line management of warm autoimmune haemolytic anaemia?
Steroids
Rituximab
203
What is the most common type of autoimmune haemolytic anaemia?
Warm autoimmune haemolytic anaemia
204
What is cold autoimmune haemolytic anaemia?
At lower temperatures the antibodies attach to the red blood cells, and cause them to clump together
205
What are the causes of cold AIHA?
Lymphoma
Leukaemia
SLE
Infections - EBV, CMV, HIV, mycoplasma
206
What is the first line management of cold AIHA?
Prednisolone
Rituximab
207
What is the further management of autoimmune haemolytic anaemia?
Blood transfusions
Splenectomy
208
What type of antibody is seen in cold AIHA?
IgM
209
What are the blood film findings in haemolysis?
Raised reticulocytes
Schistocytes
210
What is the most common inherited cause of abnormal and prolonged bleeding?
Von Willebrand disease
211
What is the pathophysiology of von willebrand disease?
Deficiency, absence of malfunctioning of glycoprotein von willebrand factor
212
What are the types of von willebrand disease?
Type 1 - partial deficiency of VWF
Type 2 - reduced function of VWF
Type 3 - complete deficiency of VWF
213
What is the most common type of von willebrand disease?
Type 1
214
What is the presentation of von willebrand disease?
Bleeding gums
Nosebleeds
Easy bruising
Menorrhagia
Heavy bleeding during and aftery surgery
215
What is the management of von willebrand disease?
Desmopression
Tranexamic acid
VWF infusion
Factor VIII plus VWF infusion
216
How does desmopressin work in von willebrand disease?
Stimulates the release of VWF from endothelial cells
217
What is immune thrombocytopenic purpura?
An autoimmune condition characterised by a reduction in the number of circulating platelets
218
What type of hypersensitivity reaction is TTP?
Type 2 hypersensitivity reaction
219
What is the pathophysiology of TTP?
The spleen produces antibodies to glycoprotein IIb/IIIa
220
What is the most common cause of ITP?
Viral infection
Following immunisation
221
What is the presentation of ITP?
Bruising
Petechiae
Prolonged bleeding from cuts
Spontaneous bleeding from gums or nose
Blood in urine or stools
Menorrhagia
222
What investigations are used in the diagnosis of ITP?
FBC - isolated thrombocytopenia
Blood film
Inflammatory markers
223
What is the first line management of ITP?
Oral prednisolone
224
What is the second line management of ITP?
IVIg
225
Draw the haematopoesis flowchart
