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MRCP > Haematology > Flashcards

Haematology Flashcards

1
Q

Which translocation is seen in 95% of CML (chronic myeloid leukaemia) patients

A

t(9:22) - Philadelphia chromosome

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2
Q

Which translocation is seen in 25% of adult ALL patients and carries a poor prognosis

A

t(9:22) - Philadelphia chromosome

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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

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4
Q

Which translocation is most commonly seen in Burkitt’s lymphoma

A

t(8:14) MYC oncogene

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5
Q

Which haematological condition is the translocation t(11:14) involving BCL-1 most commonly seen in

A

Mantle cell lymphoma

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6
Q

Which blood tests can be used to confirm a diagnosis of TRALI

A

Anti-HLA, antineutrophil antibodies

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7
Q

What are the indications for irradiated blood products

A

Neonates, NHL, immunosuppressed, post-BM transplant

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8
Q

What triad of symptoms is associated with GVHD

A

Skin rash, liver dysfunction, diarrhoea

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9
Q

What is the treatment of acute GVHD

A

IV pulse methylprednisolone

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10
Q

What is seen on a blood film in IDA

A

Target cells, pencil poikilocytes

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11
Q

Where is iron absorbed

A

Upper small intestine

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12
Q

How is iron transported in the body

A

Fe3+ - transferrin

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13
Q

What transferrin saturation suggests IDA

A

<16%

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14
Q

Which chromosome contains the 2 genes for alpha globin subunit

A

Chr 16

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15
Q

Which chromosome contains the gene for beta globin subunit

A

Chr 11

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16
Q

What is normal adult haemoglobin made of

A

2 alpha 2 beta subunits

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17
Q

What is fetal haemoglobin made of

A

2 alpha 2 gamma subunits

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18
Q

What is seen in 3 gene deletion alpha thalassaemia

A

HbH disease - hypochromic microcytic anaemia, splenomegaly

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19
Q

What is the inheritance pattern of beta-thalassaemia

A

Autosomal recessive

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20
Q

What causes a raised HbA2

A

Beta-thalassaemia trait

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21
Q

What causes bone marrow expansion with ‘hair on end’ appearance

A

Beta-thalassaemia major (2 gene deletion)

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22
Q

What is the treatment of beta-thalassaemia major

A

Transfusion programme with iron chelation

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23
Q

What are the causes of megaloblastic macrocytic anaemia

A

B12 deficiency, folate deficiency

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24
Q

What is the most specific test for pernicious anaemia

A

Anti-IF Ab

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25
Q

What are the causes of pure red cell aplasia

A

Thymoma, autoimmune, lymphoproliferative disorders

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26
Q

What causes a low haptoglobin

A

Intravascular haemolytic anaemia

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27
Q

What are the causes of extravascular haemolytic anaemia

A

Sickle cell, thalassaemia, hereditary spherocytosis, haemolytic disease of the newborn, warm AIHA

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28
Q

Which test can be used to diagnose autoimmune haemolytic anaemia

A

Positive direct antibody test (Coomb’s test)

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29
Q

What are the symptoms of cold AIHA

A

Raynauds, acrocyanosis

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30
Q

Which antibody is present in warm AIHA

A

IgG Ab

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31
Q

What are the causes of warm AIHA

A

RA, SLE, CLL, drugs (penicillin, cephalosporins, NSAIDs, levodopa, quinidine)

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32
Q

Which surface proteins are missing in paroxysmal nocturnal haemoglobinuria

A

CD55, CD59

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33
Q

Which condition causes dark morning urine and recurrent thrombotic events

A

Paroxysmal nocturnal haemoglobinuria

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34
Q

Which red cell enzyme defect results in low glutathione

A

G6PD deficiency

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35
Q

What can trigger haemolysis in G6PD patients

A

Aspirin, anti-malarials, sulpha-drugs, favs beans, infection, ciprofloxacin, nitrofurantoin

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36
Q

What is the most common hereditary haemolytic anaemia in Europe

A

Hereditary spherocytosis

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37
Q

What condition presents with jaundice, gallstones, splenomegaly and raised MCHC on bloods

A

Hereditary spherocytosis

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38
Q

Which condition is diagnosed with eosin-5-maleimide test

A

Hereditary spherocytosis

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39
Q

Which condition is caused by horizontal membrane protein defects in RBCs

A

Hereditary elliptocytosis

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40
Q

Which chromosome is affected in sickle cell disease

A

Chr 11 - beta globin chain

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41
Q

Which shift does sickle cell cause on oxygen dissociation curve

A

Right shift - lower affinity for O2

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42
Q

Which drug can be used to reduce the incidence of acute chest syndrome in sickle cell disease

A

Hydroxycarbomide

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43
Q

Which condition leads to iron deposits in the motochondria of RBCs

A

Sideroblastic anaemia (ring sideroblasts)

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44
Q

What acquired causes can lead to sideroblastic anaemia

A

Lead, alcohol, myelodysplasia, anti-TB medication, chloramphenicol

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45
Q

What treatment can be used for sideroblastic anaemia

A

Pyridoxine

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46
Q

Which chromosome is the HFE gene located

A

Chr 6

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47
Q

Which Epo-secreting tumours can lead to secondary polycythaemia

A

Cerebellar haemangiomas (VHL), hypernephromas, HCC, uterine fibroids

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48
Q

What are the major diagnostic criteria for PRV

A

Hb >185 (male)/>165 (female) or red cell mass >25% of normal, JAK2 mutation

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49
Q

Which condition causes a left-shift of the oxygen dissociation curve and tissue hypoxia due to oxidisation of Fe2+ to Fe3+

A

Methaemoglobinaemia

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50
Q

Which condition is characterised by low 02 sats but normal pO2

A

Methaemogolbinaemia

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51
Q

Which autosomal recessive condition causes aplastic anaemia, cafe au lait spots and increased risk of AML

A

Fanconi’s anaemia

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52
Q

What is the most prognostic test in AML

A

Cytogenetics of BM - for Chr 5q or 7q deletions

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53
Q

Which haematological malignancy stains positive for Sudan Black

A

AML

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54
Q

Which condition is Auer rods pathognomonic for

A

Acute promyelocytic anaemia (M3)

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55
Q

What is the treatment of acute promyelocytic leukaemia

A

All-trans-retinoic acid

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56
Q

What is the treatment of CML

A

Imatinib, hydroxycarbomide, interferon-alpha, BM transplant

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57
Q

Which condition causes Dohle bodies in white cells and increased leukocyte ALP

A

Leukaemoid reaction

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58
Q

What causes a low leukocyte alkaline phosphatase

A

TTP, CML, PNH, hereditary hypophosphatasia

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59
Q

Which condition is terminal deoxynucleotide transferase (TDT) seen in

A

ALL

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60
Q

What is the most common translocation in ALL

A

t(12;21)

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61
Q

Which cells are responsible for 99% of CLL

A

B cells

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62
Q

Which haematological cancer shows smudge cells on blood film

A

CLL

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63
Q

What is the best investigation for CLL

A

Flow cytometry - immunophenotyping shows CD19 positive B cells

64
Q

What treatment is given for CLL when indicated

A

FCR (fludarabine, cyclophosphamide, rituximab)

65
Q

What is the most common chromosome abnormality in CLL

A

Chr 13q deletion

66
Q

Which conditions cause a ‘dry tap’ on BM biopsy

A

Hairy cell leukaemia, myelofibrosis

67
Q

Which haematological condition is TRAP stain positive

A

Hairy cell leukaemia

68
Q

What is first line treatment of hairy cell leukaemia

A

Purine analogue chemotherapy - cladribine, pentostatin

69
Q

What is the most common type of Hodgkin’s lymphoma

A

Nodular sclerosing

70
Q

Which type has the worst prognosis in Hodgkin’s lymphoma

A

Lymphocyte depleted

71
Q

What stage of Hodgkin’s Lymphoma is a patient with cervical LN enlargement and spleen involvement

72
Q

What chemotherapy is used for Hodgkin’s lymphoma

A

ABVD (adriamycin, bleomycin, vincristine, doxorubicin)

73
Q

Which cancer involves the maxilla and mandible and is typically seen in African children

A

Burkitt’s lymphoma - African form

74
Q

What tumour is most common in the sporadic form of Burkitt’s lymphoma

A

Ileo-caecal tumours

75
Q

Which gene translocation is most common in Burkitt’s lymphoma

A

C-MYC translocation t(8;14)

76
Q

Which condition is thyroid maltoma associated with

A

Hashimoto’s

77
Q

What is the treatment of tumour lysis syndrome

A

Hydration, allopurinol/rasburicase

78
Q

What is the most common gammopathy in multiple myeloma

A

IgG gammopathy

79
Q

What are the major criteria for diagnosing multiple myeloma

A

> 30% monoclonal plasma cells in BM, monoclonal proteins in blood/urine, plasmacytoma on biopsy

80
Q

What radiological finding is seen on imagine of the skull in myeloma

A

Rain-drop skull

81
Q

What % of MGUS transforms to myeloma by 5 years

82
Q

What are the differentiating features betweeen MGUS and myeloma

A

MGUS has normal B2-microglobulin, lower level of paraprotein, no BJP, no clinical features/organ damage

83
Q

Which condition has high levels of IgM resulting in hyperviscosity syndrome

A

Waldenstrom’s macroglobulinaemia

84
Q

What are the symptoms of POEMS syndrome

A

Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes

85
Q

What are the causes of inherited thrombophilia

A

Protein C deficiency, Protein S deficiency, Antithrombin III deficiency, Factor V Leiden

86
Q

What is the pathophysiology of Factor V Leiden

A

Mutation in Factor V Leiden gene impairs ability of activated protein C and S to inactivate factor Va

87
Q

What is the increased risk of VTE in Factor V Leiden homozygotes

A

50x increased risk

88
Q

What does heparin bind to

A

Antithrombin III

89
Q

What is the treatment of recurrent VTE on treatment in APLS

A

Lifelong warfarin INR 3-4

90
Q

When should LMWH be commenced in APLS in pregnancy

A

Once fetal heartbeat seen on USS

91
Q

What is the clinical picture of HIT

A

> 50% drop in platelets + thrombosis + skin rash , 5-10 days after exposure to heparin

92
Q

What does Beriplex (PCC) contain

A

Factors II, VII, IX, X

93
Q

What are antibodies directed against in ITP

A

Antibodies against glycoprotein IIb-IIIa

94
Q

What is Evan’s syndrome

A

ITP + AIHA

95
Q

What is the pathogenesis of TTP

A

Abnormally large sticky vWF causes platelets to clump in vessels

96
Q

What deficiency is present in TTP

97
Q

What are the features of TTP

A

PENTAD (pyrexia, endothelial damage, neurological abnormalities, thrombocytopenia with purpura, MAHA with schistocytes, damage to kidneys)

98
Q

What is the treatment of TTP

A

Urgent plasmapheresis with FFP

99
Q

What chromosome is involved in von Willebrand’s disease

100
Q

What is seen on blood tests in vWD

A

Prolonged bleeding time, mildly reduced factor VIII, reduced platelet aggregation with ristocentrin

101
Q

What is the treatment of vWD

A

Tranexamic acid, desmopressin, intermediate purity factor VIII

102
Q

What is haemophilia C

A

Autosomal recessive deficiency of factor XI

103
Q

What are the causes of prolonged APTT

A

Haemophilia, heparin, von Willebrand’s disease, antiphospholipid syndrome

104
Q

What is the MOA of tranexamic acid

A

Competitively inhibits activation of plasminogen, thereby reducing conversion of plasminogen to plasmin

105
Q

Which factors are involved in the extrinsic pathway

A

Factor III (Tissue factor), Factor VII

106
Q

Which deficiency has prolonged PT but normal APTT

A

Factor VII deficiency

107
Q

What are the 4 diagnostic criteria for hereditary haemorrhagic telangiectasia

A

Epistaxis, telangiectases, visceral lesions (GI, pulmonary, hepatic, cerebral, spinal AV malformations), FHx

108
Q

What haematological condition gives a characteristic burning sensation in the hands and is associated with JAK2 mutation

A

Essential thrombocytosis

109
Q

What is the pathogenesis of myelofibrosis

A

Hyperplasia of abnormal megakaryocytes causes increased PDGF which stimulates fibroblasts

110
Q

What does myelodysplastic syndrome show on blood film and BM biopsy

A

Blood film - small blasts, BM biopsy - ring sideroblasts

111
Q

Which haematological cancer is malaria associated with

A

Burkitt’s lymphoma

112
Q

What is given as prophylaxis for neutropenic sepsis

A

Fluoroquinolone (e.g. ciprofloxacin)

113
Q

What drugs can cause pancytopenia

A

Cytotoxics, trimethoprim, chloramphenicol, penicillamine, carbimazole, sulphonylureas, carbamazepine

114
Q

What is the treatment of aplastic anaemia

A

Anti-thymocyte globulin, anti-lymphocyte globulin + steroids

115
Q

What are the causes of hyposplenism

A

Splenectomy, sickle cell, SLE, amyloid, Grave’s, coeliac

116
Q

What are the causes of eosinophilia

A

NA ACCP (neoplasia, addison’s, asthma/allergy, collagen vascular disease, cholesterol emboli, parasites)

117
Q

Which blood product has the highest risk of bacterial contamination

118
Q

What are the most common organisms in neutropenic sepsis

A

Gram positive cocci - staph epidermidis

119
Q

What is 0 on ECOG score in cancer assessment

A

Fully active performance status

120
Q

What are the causes of gingival hyperplasia

A

Phenytoin, cyclosporine, CCB, AML

121
Q

What is raised on FBC in PRV

A

Hb, HCT, neutrophils, basophils (plts raised in 50%)

122
Q

What is the treatment of methaemoglobinaemia

A

Methylthioninium chloride (methylene blue)

123
Q

What is the treatment of acute chest syndrome in sickle cell disease

A

O2 therapy, IV fluids, analgesia, incentive spirometry, ABx cover, early discussion with critical care

124
Q

What blood results are seen in cryoglobulinaemia

A

Low C4, raised ESR

125
Q

What drug is used to prevent haemorrhagic cystitis in cyclophosphamide use

126
Q

What does a low leukocyte alkaline phosphatase score indicate

A

A high presence of immature WBC on peripheral blood smear

127
Q

What are the classic features of acute intermittent porphyria

A

Abdominal and neuropsychiatric symptoms in 20-40 year olds, urine turns deep red on standing

128
Q

What blood type is the universal donor of FFP

A

AB (doesn’t have any antibodies)

129
Q

What does cryoprecipitate contain

A

Factor VIII:C, vWF, fibrinogen, Factor XIII, fibronectin

130
Q

Which translocation confers good prognosis in AML

131
Q

Which condition can affect almost every organ system including biliary and salivary, and is analogous to sarcoidosis

A

IgG4-related disease

132
Q

Which condition is likely to cause SOB and hypertension after a blood transfusion

133
Q

Which cancer has a ‘starry sky’ appearance on microscopy

A

Burkitt’s lymphoma

134
Q

Which syndrome is linked to pollen allergies and presents with seasonal variation

A

Oral allergy syndrome

135
Q

What is the best test for hereditary angioedema in between attacks

136
Q

Which haematological malignancy demonstrates an increase in granulocytes at different stages of maturation

137
Q

What are the acquired causes of methaemoglobinaemia

A

Sulphonamides, poppers/nitrates, dapsone, Na nitroprusside, primaquine, aniline dyes

138
Q

What deficiency causes congenital methaemoglobinaemia

A

NADH methaemoglobin reductase deficiency

139
Q

What causes recurrent pneumonia to occur in CLL

A

Hypogammaglobulinaemia

140
Q

What are the features of Wiskott-Aldrich syndrome

A

Thrombocytopenia, low IgM, recurrent bacterial infections, eczema

141
Q

What electrolyte abnormality might you see with repeated blood transfusions

A

Low calcium (binds to citrate)

142
Q

What is the schilling test

A

For pernicious anaemia (measures urine B12 after IF)

143
Q

Which gene is associated with waldenstrom’s macroglobulinaemia

144
Q

What causes rouleaux formations on blood film

A

Increase in immunoglobulins (MM, macroglobulinaemias)

145
Q

What is first line treatment of hyperviscosity syndrome in WM

A

Plasmapheresis

146
Q

What are the acquired causes of sideroblastic anaemia

A

Myelodysplasia, lead poisoning, alcohol abuse, copper deficiency

147
Q

What is the management of severe pain in painful sickle cell crisis

A

IV diamorphine

148
Q

What is the long term treatment of TTP where plts <50

149
Q

What causes autoimmune haemolytic anaemia in CLL

A

Auto reactive T cell induction

150
Q

What is the triad of symptoms of viscosity syndrome

A

Mucosal bleeding
Visual changes
Neurological symptoms

151
Q

Which type of HIT is associated with risk of thromboembolism

A

Type 2 HIT (Plts <50)

152
Q

When should cryoprecipitate be given in DIC

A

Fibrinogen <1g/L

153
Q

Which haem condition can present with cytopenia 5 years after chemotherapy

A

Myelodysplastic syndrome

154
Q

When are CMV-seronegative blood products used

A

Intrauterine and neonatal transfusions, elective transfusion of a pregnant woman

155
Q

When are washed blood products used

A

Patients with history of recurrent and severe allergic transfusion reactions

156
Q

What is the treatment of HIT

A

Stop any form of heparin and anticoagulate with argatroban or danaparoid

MRCP (16 decks)

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