Haematology Flashcards
(156 cards)
1
Q
Which translocation is seen in 95% of CML (chronic myeloid leukaemia) patients
A
t(9:22) - Philadelphia chromosome
2
Q
Which translocation is seen in 25% of adult ALL patients and carries a poor prognosis
A
t(9:22) - Philadelphia chromosome
3
Q
Which condition is the translocation t(15:17) fusion of PML and RAR-alpha genes commonly seen in
A
Acute promyelocytic leukaemia (M3) of AML
4
Q
Which translocation is most commonly seen in Burkitt’s lymphoma
A
t(8:14) MYC oncogene
5
Q
Which haematological condition is the translocation t(11:14) involving BCL-1 most commonly seen in
A
Mantle cell lymphoma
6
Q
Which blood tests can be used to confirm a diagnosis of TRALI
A
Anti-HLA, antineutrophil antibodies
7
Q
What are the indications for irradiated blood products
A
Neonates, NHL, immunosuppressed, post-BM transplant
8
Q
What triad of symptoms is associated with GVHD
A
Skin rash, liver dysfunction, diarrhoea
9
Q
What is the treatment of acute GVHD
A
IV pulse methylprednisolone
10
Q
What is seen on a blood film in IDA
A
Target cells, pencil poikilocytes
11
Q
Where is iron absorbed
A
Upper small intestine
12
Q
How is iron transported in the body
A
Fe3+ - transferrin
13
Q
What transferrin saturation suggests IDA
A
<16%
14
Q
Which chromosome contains the 2 genes for alpha globin subunit
A
Chr 16
15
Q
Which chromosome contains the gene for beta globin subunit
A
Chr 11
16
Q
What is normal adult haemoglobin made of
A
2 alpha 2 beta subunits
17
Q
What is fetal haemoglobin made of
A
2 alpha 2 gamma subunits
18
Q
What is seen in 3 gene deletion alpha thalassaemia
A
HbH disease - hypochromic microcytic anaemia, splenomegaly
19
Q
What is the inheritance pattern of beta-thalassaemia
A
Autosomal recessive
20
Q
What causes a raised HbA2
A
Beta-thalassaemia trait
21
Q
What causes bone marrow expansion with ‘hair on end’ appearance
A
Beta-thalassaemia major (2 gene deletion)
22
Q
What is the treatment of beta-thalassaemia major
A
Transfusion programme with iron chelation
23
Q
What are the causes of megaloblastic macrocytic anaemia
A
B12 deficiency, folate deficiency
24
Q
What is the most specific test for pernicious anaemia
A
Anti-IF Ab
25
What are the causes of pure red cell aplasia
Thymoma, autoimmune, lymphoproliferative disorders
26
What causes a low haptoglobin
Intravascular haemolytic anaemia
27
What are the causes of extravascular haemolytic anaemia
Sickle cell, thalassaemia, hereditary spherocytosis, haemolytic disease of the newborn, warm AIHA
28
Which test can be used to diagnose autoimmune haemolytic anaemia
Positive direct antibody test (Coomb’s test)
29
What are the symptoms of cold AIHA
Raynauds, acrocyanosis
30
Which antibody is present in warm AIHA
IgG Ab
31
What are the causes of warm AIHA
RA, SLE, CLL, drugs (penicillin, cephalosporins, NSAIDs, levodopa, quinidine)
32
Which surface proteins are missing in paroxysmal nocturnal haemoglobinuria
CD55, CD59
33
Which condition causes dark morning urine and recurrent thrombotic events
Paroxysmal nocturnal haemoglobinuria
34
Which red cell enzyme defect results in low glutathione
G6PD deficiency
35
What can trigger haemolysis in G6PD patients
Aspirin, anti-malarials, sulpha-drugs, favs beans, infection, ciprofloxacin, nitrofurantoin
36
What is the most common hereditary haemolytic anaemia in Europe
Hereditary spherocytosis
37
What condition presents with jaundice, gallstones, splenomegaly and raised MCHC on bloods
Hereditary spherocytosis
38
Which condition is diagnosed with eosin-5-maleimide test
Hereditary spherocytosis
39
Which condition is caused by horizontal membrane protein defects in RBCs
Hereditary elliptocytosis
40
Which chromosome is affected in sickle cell disease
Chr 11 - beta globin chain
41
Which shift does sickle cell cause on oxygen dissociation curve
Right shift - lower affinity for O2
42
Which drug can be used to reduce the incidence of acute chest syndrome in sickle cell disease
Hydroxycarbomide
43
Which condition leads to iron deposits in the motochondria of RBCs
Sideroblastic anaemia (ring sideroblasts)
44
What acquired causes can lead to sideroblastic anaemia
Lead, alcohol, myelodysplasia, anti-TB medication, chloramphenicol
45
What treatment can be used for sideroblastic anaemia
Pyridoxine
46
Which chromosome is the HFE gene located
Chr 6
47
Which Epo-secreting tumours can lead to secondary polycythaemia
Cerebellar haemangiomas (VHL), hypernephromas, HCC, uterine fibroids
48
What are the major diagnostic criteria for PRV
Hb >185 (male)/>165 (female) or red cell mass >25% of normal, JAK2 mutation
49
Which condition causes a left-shift of the oxygen dissociation curve and tissue hypoxia due to oxidisation of Fe2+ to Fe3+
Methaemoglobinaemia
50
Which condition is characterised by low 02 sats but normal pO2
Methaemogolbinaemia
51
Which autosomal recessive condition causes aplastic anaemia, cafe au lait spots and increased risk of AML
Fanconi’s anaemia
52
What is the most prognostic test in AML
Cytogenetics of BM - for Chr 5q or 7q deletions
53
Which haematological malignancy stains positive for Sudan Black
AML
54
Which condition is Auer rods pathognomonic for
Acute promyelocytic anaemia (M3)
55
What is the treatment of acute promyelocytic leukaemia
All-trans-retinoic acid
56
What is the treatment of CML
Imatinib, hydroxycarbomide, interferon-alpha, BM transplant
57
Which condition causes Dohle bodies in white cells and increased leukocyte ALP
Leukaemoid reaction
58
What causes a low leukocyte alkaline phosphatase
TTP, CML, PNH, hereditary hypophosphatasia
59
Which condition is terminal deoxynucleotide transferase (TDT) seen in
ALL
60
What is the most common translocation in ALL
t(12;21)
61
Which cells are responsible for 99% of CLL
B cells
62
Which haematological cancer shows smudge cells on blood film
CLL
63
What is the best investigation for CLL
Flow cytometry - immunophenotyping shows CD19 positive B cells
64
What treatment is given for CLL when indicated
FCR (fludarabine, cyclophosphamide, rituximab)
65
What is the most common chromosome abnormality in CLL
Chr 13q deletion
66
Which conditions cause a ‘dry tap’ on BM biopsy
Hairy cell leukaemia, myelofibrosis
67
Which haematological condition is TRAP stain positive
Hairy cell leukaemia
68
What is first line treatment of hairy cell leukaemia
Purine analogue chemotherapy - cladribine, pentostatin
69
What is the most common type of Hodgkin’s lymphoma
Nodular sclerosing
70
Which type has the worst prognosis in Hodgkin’s lymphoma
Lymphocyte depleted
71
What stage of Hodgkin’s Lymphoma is a patient with cervical LN enlargement and spleen involvement
III
72
What chemotherapy is used for Hodgkin’s lymphoma
ABVD (adriamycin, bleomycin, vincristine, doxorubicin)
73
Which cancer involves the maxilla and mandible and is typically seen in African children
Burkitt’s lymphoma - African form
74
What tumour is most common in the sporadic form of Burkitt’s lymphoma
Ileo-caecal tumours
75
Which gene translocation is most common in Burkitt’s lymphoma
C-MYC translocation t(8;14)
76
Which condition is thyroid maltoma associated with
Hashimoto’s
77
What is the treatment of tumour lysis syndrome
Hydration, allopurinol/rasburicase
78
What is the most common gammopathy in multiple myeloma
IgG gammopathy
79
What are the major criteria for diagnosing multiple myeloma
>30% monoclonal plasma cells in BM, monoclonal proteins in blood/urine, plasmacytoma on biopsy
80
What radiological finding is seen on imagine of the skull in myeloma
Rain-drop skull
81
What % of MGUS transforms to myeloma by 5 years
10%
82
What are the differentiating features betweeen MGUS and myeloma
MGUS has normal B2-microglobulin, lower level of paraprotein, no BJP, no clinical features/organ damage
83
Which condition has high levels of IgM resulting in hyperviscosity syndrome
Waldenstrom’s macroglobulinaemia
84
What are the symptoms of POEMS syndrome
Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes
85
What are the causes of inherited thrombophilia
Protein C deficiency, Protein S deficiency, Antithrombin III deficiency, Factor V Leiden
86
What is the pathophysiology of Factor V Leiden
Mutation in Factor V Leiden gene impairs ability of activated protein C and S to inactivate factor Va
87
What is the increased risk of VTE in Factor V Leiden homozygotes
50x increased risk
88
What does heparin bind to
Antithrombin III
89
What is the treatment of recurrent VTE on treatment in APLS
Lifelong warfarin INR 3-4
90
When should LMWH be commenced in APLS in pregnancy
Once fetal heartbeat seen on USS
91
What is the clinical picture of HIT
>50% drop in platelets + thrombosis + skin rash , 5-10 days after exposure to heparin
92
What does Beriplex (PCC) contain
Factors II, VII, IX, X
93
What are antibodies directed against in ITP
Antibodies against glycoprotein IIb-IIIa
94
What is Evan’s syndrome
ITP + AIHA
95
What is the pathogenesis of TTP
Abnormally large sticky vWF causes platelets to clump in vessels
96
What deficiency is present in TTP
ADAMTS13
97
What are the features of TTP
PENTAD (pyrexia, endothelial damage, neurological abnormalities, thrombocytopenia with purpura, MAHA with schistocytes, damage to kidneys)
98
What is the treatment of TTP
Urgent plasmapheresis with FFP
99
What chromosome is involved in von Willebrand’s disease
Chr 12
100
What is seen on blood tests in vWD
Prolonged bleeding time, mildly reduced factor VIII, reduced platelet aggregation with ristocentrin
101
What is the treatment of vWD
Tranexamic acid, desmopressin, intermediate purity factor VIII
102
What is haemophilia C
Autosomal recessive deficiency of factor XI
103
What are the causes of prolonged APTT
Haemophilia, heparin, von Willebrand’s disease, antiphospholipid syndrome
104
What is the MOA of tranexamic acid
Competitively inhibits activation of plasminogen, thereby reducing conversion of plasminogen to plasmin
105
Which factors are involved in the extrinsic pathway
Factor III (Tissue factor), Factor VII
106
Which deficiency has prolonged PT but normal APTT
Factor VII deficiency
107
What are the 4 diagnostic criteria for hereditary haemorrhagic telangiectasia
Epistaxis, telangiectases, visceral lesions (GI, pulmonary, hepatic, cerebral, spinal AV malformations), FHx
108
What haematological condition gives a characteristic burning sensation in the hands and is associated with JAK2 mutation
Essential thrombocytosis
109
What is the pathogenesis of myelofibrosis
Hyperplasia of abnormal megakaryocytes causes increased PDGF which stimulates fibroblasts
110
What does myelodysplastic syndrome show on blood film and BM biopsy
Blood film - small blasts, BM biopsy - ring sideroblasts
111
Which haematological cancer is malaria associated with
Burkitt’s lymphoma
112
What is given as prophylaxis for neutropenic sepsis
Fluoroquinolone (e.g. ciprofloxacin)
113
What drugs can cause pancytopenia
Cytotoxics, trimethoprim, chloramphenicol, penicillamine, carbimazole, sulphonylureas, carbamazepine
114
What is the treatment of aplastic anaemia
Anti-thymocyte globulin, anti-lymphocyte globulin + steroids
115
What are the causes of hyposplenism
Splenectomy, sickle cell, SLE, amyloid, Grave’s, coeliac
116
What are the causes of eosinophilia
NA ACCP (neoplasia, addison’s, asthma/allergy, collagen vascular disease, cholesterol emboli, parasites)
117
Which blood product has the highest risk of bacterial contamination
Platelets
118
What are the most common organisms in neutropenic sepsis
Gram positive cocci - staph epidermidis
119
What is 0 on ECOG score in cancer assessment
Fully active performance status
120
What are the causes of gingival hyperplasia
Phenytoin, cyclosporine, CCB, AML
121
What is raised on FBC in PRV
Hb, HCT, neutrophils, basophils (plts raised in 50%)
122
What is the treatment of methaemoglobinaemia
Methylthioninium chloride (methylene blue)
123
What is the treatment of acute chest syndrome in sickle cell disease
O2 therapy, IV fluids, analgesia, incentive spirometry, ABx cover, early discussion with critical care
124
What blood results are seen in cryoglobulinaemia
Low C4, raised ESR
125
What drug is used to prevent haemorrhagic cystitis in cyclophosphamide use
Mesna
126
What does a low leukocyte alkaline phosphatase score indicate
A high presence of immature WBC on peripheral blood smear
127
What are the classic features of acute intermittent porphyria
Abdominal and neuropsychiatric symptoms in 20-40 year olds, urine turns deep red on standing
128
What blood type is the universal donor of FFP
AB (doesn’t have any antibodies)
129
What does cryoprecipitate contain
Factor VIII:C, vWF, fibrinogen, Factor XIII, fibronectin
130
Which translocation confers good prognosis in AML
t(15:17)
131
Which condition can affect almost every organ system including biliary and salivary, and is analogous to sarcoidosis
IgG4-related disease
132
Which condition is likely to cause SOB and hypertension after a blood transfusion
TACO
133
Which cancer has a ‘starry sky’ appearance on microscopy
Burkitt’s lymphoma
134
Which syndrome is linked to pollen allergies and presents with seasonal variation
Oral allergy syndrome
135
What is the best test for hereditary angioedema in between attacks
C4 level
136
Which haematological malignancy demonstrates an increase in granulocytes at different stages of maturation
CML
137
What are the acquired causes of methaemoglobinaemia
Sulphonamides, poppers/nitrates, dapsone, Na nitroprusside, primaquine, aniline dyes
138
What deficiency causes congenital methaemoglobinaemia
NADH methaemoglobin reductase deficiency
139
What causes recurrent pneumonia to occur in CLL
Hypogammaglobulinaemia
140
What are the features of Wiskott-Aldrich syndrome
Thrombocytopenia, low IgM, recurrent bacterial infections, eczema
141
What electrolyte abnormality might you see with repeated blood transfusions
Low calcium (binds to citrate)
142
What is the schilling test
For pernicious anaemia (measures urine B12 after IF)
143
Which gene is associated with waldenstrom’s macroglobulinaemia
MYD88
144
What causes rouleaux formations on blood film
Increase in immunoglobulins (MM, macroglobulinaemias)
145
What is first line treatment of hyperviscosity syndrome in WM
Plasmapheresis
146
What are the acquired causes of sideroblastic anaemia
Myelodysplasia, lead poisoning, alcohol abuse, copper deficiency
147
What is the management of severe pain in painful sickle cell crisis
IV diamorphine
148
What is the long term treatment of TTP where plts <50
Aspirin
149
What causes autoimmune haemolytic anaemia in CLL
Auto reactive T cell induction
150
What is the triad of symptoms of viscosity syndrome
Mucosal bleeding
Visual changes
Neurological symptoms
151
Which type of HIT is associated with risk of thromboembolism
Type 2 HIT (Plts <50)
152
When should cryoprecipitate be given in DIC
Fibrinogen <1g/L
153
Which haem condition can present with cytopenia 5 years after chemotherapy
Myelodysplastic syndrome
154
When are CMV-seronegative blood products used
Intrauterine and neonatal transfusions, elective transfusion of a pregnant woman
155
When are washed blood products used
Patients with history of recurrent and severe allergic transfusion reactions
156
What is the treatment of HIT
Stop any form of heparin and anticoagulate with argatroban or danaparoid
