Haem/Onc Flashcards

1
Q

What is affected when someone has alpha thalassemia

A

the alpha globin alleles on Ch16 (2x2)

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2
Q

What would happen if all 4 alpha globin alleles on Ch16 were affected

A

death in utero

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3
Q

What would happen if 3 alpha globin alleles on Ch16 were affected?

A

HbH disease, hypochromic microcytic anaemia with splenomegaly

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4
Q

What would happen if alpha globin alleles on Ch16 were affected?

A

Hypochromic and microcytic, normal Hb

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5
Q

What is HbA

A

alpha2 + beta2 = normal Haemoglobin

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6
Q

What is beta thalassemia trait?

A

autosomal recessive
mild hypochromic microcytic anaemia. Microcytosis disproportional to anemia

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7
Q

What is beta thalassemia major

A

Ch11, abscence of beta chains
FTT and hepatomegaly
microcytic anaemia
raised HbA2 and HbF
no HbA

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8
Q

How is beta thalassemia major managed

A

Repeated transfusions + desferrioxamine to prevent iron overload and organ failure

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9
Q

What genetic abnormality leads to Burkitts lymphoma

A

c-myc gene translocation t(8:14)

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10
Q

What is each form of Burkitts associated with?

A

Sporadiac: abdominal tumours, HIV
Endemic: maxilla, mandible, EBV

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11
Q

What would a starry sky on microscopy indicate

A

Burkitts lymphoma

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12
Q

Management of Burkitts

A

Chemo with rasburicase prior as high rise of tumour lysis syndrome

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13
Q

Blood results to indicate tumour lysis syndrome

A

high: phosphate, potassium, uric acid
low: calcium

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14
Q

Prevention of tumour lysis syndrome

A

IV Fluids
low risk: allopurinol
high risk: rasburicase (uric acid ->allantoin

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15
Q

G6PD deficiency inheritance

A

X linked

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16
Q

What is G6PD deficiency

A

increased RBC susceptibility to oxidative stress

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17
Q

How does G6PD present

A

neonatal jaundice
intravascular haemolysis
gallstones

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18
Q

What would Heinz bodies on blood film indicate

A

G6PD def

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19
Q

How do you diagnose G6PD

A

G6PD enzyme assay 3 months after acute episode

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20
Q

Triggers for G6PD

A

primaquine, cipro sulph-
infection
broad beans

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21
Q

What is polycythemia?

A

Increase in red cell volume
Primary: polycytheameia vera
Secondary: COPD, OSA
Relative: dehydration, stress

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22
Q

What causes polycythaemia Vera?

A

Associated with JAK2 mutation
myeloproliferative disorder, proliferation of marrow stem cells -> increased red cell volume

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23
Q

Symptoms of PCV

A

pruritis after hot bath
splenomegaly
HTN
arterial/venous thrombosis (hyperviscosity)
haemorrhage

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24
Q

Investigation of PCV

A

FBC
JAK 2
Low ESR

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25
Management PCV
aspirin: reduced VTE risk venesection cheo: hydroxyurea
26
Prognosis PCV
5-15% develop myelofibrosis or acute leukaemia
27
Cancers likely to cause SVCO
SCLC lymphoma
28
Presentation of SVCO
SOB swelling headache blurred vision pulseless jugular venous distension
29
Management of SVCO
endovasc stenting radial chemo (SLCL, lymphoma) steroids
30
Von Willebrands disease inheritance
Type 1: autosomal rec Type 3: autosomal dom
31
Presentation of vWD
epistaxis, menorrhagia
32
Types of vWD
1: partial reduction in vWF (80%) 2: abnormal form of vWF 3: no vWF
33
Investigations vWD
increased bleeding time increased APTT decreased factor VIII defective platelet aggregation with ristocetin
34
defective platelet aggregation with ristocetin
Von Willebrands
35
Management of vWD
mild bleed: tranexamic acid desmopression: induces release of vWF from endothelial cells factor VIII
36
Examples of acquired thrombophilia
anti-phospholipid syndrome COCP
37
most common inherited thrombophilia
Factor V Leiden (activated protein C resistance)
38
Types of haemophilia
A: factor VIII def B: factor IX def
38
Genetic inheritance of haemophilia
X linked
38
Presentation of haemophilia
haemoarthrosis haematomas increased bleeding after surgery/trauma
39
Blood marker for haemophilia
raised APTT
39
How would ITP present
epistaxis, petechia, purpura thrombocytopenia, antiplatelet autoantibodies Mx: pred, IVIG
40
How would TTP present
The terrible pentad 1) thrombocytopenia 2) anaemia 3) fever 4) renal failure 5) neuro signs
41
Pathophysio TTP
deficiency ADAMTS13 which breaks down vWF therefore increased vWF leads to platelet aggregation
42
Causes of TTP
post infectious pregnancy tumours SLE HIV ciclosporin, OCP, epn, clopi, acic
43
What would schistocytes on blood film indicate
TTP DIC
44
Management of TTP
plasma exchange steroids, immunosup
45
What is DIC
coagulation and fibrinolysis disregulation resulting in clotting with bleeding transmembrane glycoprotein (TF) release
46
Diagnosis of DIC
low: platelets, fibrinogen High: PT APTT D-dimer Schistocytes
47
Examples of microcytic anaemia
IDA thalassemia sideroblastic
48
Examples of macrocytic anaemia
Vit B12 def* folate def* MTX* alcohol liver hypothyroid *megaloblastic
49
Examples of normocytic anaemia
chronic disease CKD aplastic haemolytic acute blood loss
50
Types of Sideroblastic anaemia
congenital: delta aminolevulinate syn 2 def acquired: myelodys, alcohol, lead
51
Pathophy sideroblastic anaemia
red cells fail to form completely
52
Blood results of sideroblastic anaemia
microcytic anaemia high ferritin, iron, transferritin Bone marrow: sideroblasts blood film: basophilic stippling
53
Management of sideroblastic anaemia
supportive
54
What is pernicious anaemia
antibodies to intrinsic factor and parietal cells causing reduced B12
55
Presentation of pernicious anaemia
anaemia: tired, pale, SOB neuro: peripheral neuropathy, weakness, neuro psych lemon tinge (jaundice + anaemia) sore tongue
56
Investigations of pernicious anaemia
macrocytic anaemia blow b12 Blood film: hypersegmented polymorphs anti intrinsic factor antibodies - specific anti parietal antibodies
57
Management pernicious anaemia
IM vit B12
58
Cause of aplastic anaemia
autoimmune destruction haematopoeitic stem cells (pancytopenia) mostly unknown radiation, chemo, Fanconis (autosome rec, short, cafe au lait, increased risk AML)
59
presentation aplastic anaemia
RBC: fatigue, pallor WBC: infections Platelets: bleeding, petechiae
60
Diagnosis aplastic anaemia
pancytopenia raised erythropoietin bone marrow: low haematopoietic stem cells
61
Management aplastic anaemia
blood products ATG ALG (+steroids) stem cell transplant
62
Types of haemolytic anaemia
warm: IgG, SLE, Mx steroids Cold: IgM, lymphoma, EBV, Raynaurds, less steroid responsive
63
What would +ve Coombs test indicate
Haemolytic anaemia
64
What is SCD
autosomal rec, abnormal Hb synthesis
65
Describe possible types of SCD
trait: HbAS disease: HbSS Mild disease: HbSC
66
Pathophysio SCD
HbS polymerises at low o2 and sickles -> haemolyse -> block vessels
67
Sickle cell diagnosis
haemoglobin electrophoresis
68
Sickle cell management
crisis: rehydrate, o2, blood, exchange long term: hydroxyurea (increases HbF) Pneumococcal vaccine
69
Presentation of Hodgkins lymphoma
lymphadenopathy: asyn, pain with alcohol B symptoms medistinal mass
70
Ix Hodgkins lymphoma
normocytic anaemia Reed sternberg cells (owl eye) *most common type nodular sclerosing
71
Staging used for lymphoma
Ann arbor 1: single lymph node 2: 2+ unilateral 3: bialteral 4: beyond lymph nodes A: no systemic features B: systemic features
72
Management of Hodgkins
Chemo Radio Combo
73
Prognostic features of Hodgkins
Bad: b symptoms Good: lymphocyte predominant type
74
Presentation NHL
lymphadenopathy B symptoms extranodular: pancytopenia, gastro, nerve palsies
75
Management NHL
watchful waiting Chemo or radio Vaccines
76
What causes myeloma
genetic mutations which occur as B-lymphocytes differentiate into mature plasma cells.
77
Presentation of myeloma
CRABBI Calcium, high, constipation, nausea, confusion Renal damage Anaemia Bleeding Bone pain (back) Infections
78
Investigations for myeloma
protein electrophoresis: blood IgA IgG urine: Bence Jones Bone marrow: increased plasma cells Whole Body MRI XR skull: rain drop skull
79
Rain drop skull
Myeloma
80
Diagnosis of myeloma
1 major + 1 minor OR 3 minor Major: plasmacytoma, BM 30% plasma cells, increased M protein Minor: osteolytic lesions, BM 10-30% plasma cells, minor increased M protein, low levels Abs bood
81
CML important points
Philadelphia Ch T(9:22) Granulocytes at different stages of maturation Mx: imatinid (inhibits tyrosine kinase)
82
AML important points
symptoms relating to BM failure acute promyelocytic leukaemia -t(15:17) - 25yo -DIC - good prognosis
83
ALL important points
kids 2-5 good prog: del (9p), FAB L1 bad prog: philadelphia t(9:22), FAB L3
84