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Haem Flashcards

1
Q

Anaemia Definition (Hb)

A

Men <135g/L

Women <115g/L

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2
Q

Causes of microcytic anaemia

A 
FAST
Fe-deficiency
Anaemia of chronic disease
Sideroblastic anaemia
Thalassaemia
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3
Q

Causes of macrocytic anaemia

A 
FATRBC(+M)
Fetus (pregnancy)
Antifolates (phenytoin)
Thyroid (Hypothyroidism)
B12 or folate deficiency
Cirrhosis (++alcohol)
Myelodysplastic syndromes
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4
Q

Causes of normocytic anaemia

A 
Acute blood loss
Anaemia of chronic disease
BM failure
Renal failure
Hypothyroidism
Haemolysis
Pregnancy
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5
Q

Fe deficiency anaemia - signs

A

koilonychia, atrophic glossitis, angular cheilosis

post cricoid webs - Plummer-Vinson Syndrome

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6
Q

Fe deficiency anaemia -blood film

A

microcytosis, hypochromic
anisytosis/ poikilocytosis
pencil cells

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7
Q

Fe deficiency anaemia - lab results

A

low Fe
low ferritin
high TIBC

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8
Q

Anaemia of chronic disease - pathophysiology

A

cytokine driven inhibition of RBC production

IFNs, TNF, Il1 = reduced EPO re3ceptor production (reduced EPO synthesis)

IL6 and LPS = stimulate liver to make hepcidin = decreases iron absorption (inhibits transferrin)

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9
Q

Anaemia of chronic disease - in renal failure

A

EPO deficiency

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10
Q

Sideroblastic anaemia

A

in BM - ineffective erythropoiesis - iron loading

causes endocrine/liver/ cardiac damage

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11
Q

Sideroblastic anaemia blood film

A

Ring sideroblasts

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12
Q

Sideroblastic anaemia - lab results

A

high Fe
high ferritin
N TIBC

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13
Q

Sideroblastic anaemia - causes

A 
ALCOHOL excess
myelodysplastic/ myeloproliferative disorders
post-chemo
irradiation
lead
anti-TB drugs
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14
Q

Sideroblastic anaemia - treatment

A

Pyridoxine - Vit B6 promotes RBC production

Remove cause

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15
Q

Vit B12 deficiency causes

A

Stomach - Pernicious anaemia (post-gastrectomy)

Terminal ileum - ileal resection (Crohn’s disease, bacteria overgrowth, tropical sprue, tape worms)

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16
Q

Vit B12 deficiency clinical features

A

glossitis, angular cheilosis

irritabiliy/ depression/ psychosis/ dementia

paraesthesiae, peripheral neuropathy (loss vibration/ proprioception 1st - absent ankle reflex, spastic paraperesis)

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17
Q

Pernicious Anaemia

A

anti-IF (50%)
anti-parietal cell (90%)
Schilling test

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18
Q

Vit B12 deficiency treatment

A

IM hydroxocobalamin (B12)

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19
Q

Folate deficiency causes

A

Diet
Pregnancy
Drugs - alcohol, anti-epileptics (phenytoin), methotrexate, trimethoprim

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20
Q

Hereditary spherocytosis genetics

A

autosomal dominant

SPECTRIN (or ankyrin) deficiency

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21
Q

Hereditary spherocytosis diagnosis

A

spherocytes
increase osmotic fragility
DAT +ve

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22
Q

Hereditary spherocytosis features

A

severe neonatal jaundice

splenomegaly - extravascular haemolysis

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23
Q

haemolytic anaemia complications

A

Parvovirus B19 susceptibility
- virus infects developing RBC and arrests maturation
if reduced RBC/RBC lifespan - may lead to severe anaemia
self limiting infection - may require transfusion

propensity to gall stones (pigmented)

increased risk of iron overload (increased intestinal absorption)
increased risk osteoporosis (unknown)

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24
Q

Gilbert Syndrome gene

A

genetic polymorphism

Mutation in UGT 1A1 (extradinucleotide on each allele = TA7/TA7)

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25
Hereditary ellipotcytosis genetics
autosomal dominant - spectrin mutations
26
Hereditary pyropoikilocytosis (ellipotcytosis) genetics
abnormally snesitive to heat | autosomal recessive
27
South East Asian Ovalocytosis
recessive - heterozygous +/- malaria protection
28
G6PD Deifciency genetics
X linked (affect hereo males and homo females) G6PD = enzyme catalyses first step in pentose phosphate pathway - maintains intracellular gluthianone (GSH) GSH - protect RBCs against oxidative stress
29
G6PD Deifciency blood film
Heinz bodies - peripheral inclusions (methylviolet stain) bite cells nucleated RBCs, contracted cells
30
G6PD Deifciency presentation
rapid anaemia/ jaudice precipated by oxidants | drugs (primaquinine, sulfonamides, aspirin), broad/fava beans, acute stressors/infection, moth balls (naptholene0
31
Pyruvate kinase defiency
autosomal recessive severe neonatal jaundice, splenomegaly, haemolytic anaemia
32
Sickle cell mutation
GAG -> GTG (Glu-> Val) codon 6 on beta chain HbA-> HbS
33
Sickle-haemaglobin C disease
HbSC HbS from one parent HbC from other parent (defective b chain)
34
Sickle beta thalassaemia
HbS/Beta HbS from one parent beta thalassaemia trait from other parent
35
SCD vaso-oclusion/ infarction SICKLED
``` Stroke Infection Crises (splenic, sequestration, chest pain) Kidney Liver - gallstones Eyes - retinopaty Dactilitis ``` Mesenteric ischaemia Priapism
36
SCD Haemolyis features
``` anaemia 60-80 splenomegaly folate deficiency gallstones aplastic crisis ```
37
SCD presentation
usually at 3-6 months (decrease HbF) reduced O2 = HbS polymerisation = sickling child - strokes, splenomegaly, splenic crisis, dactylitis teens - impaired growth, gallstones, psych, priapism adult - hyposplenism, CKD, retinopathy, pumonary HT
38
Beta thalassaemia
reduced beat chain synthesis
39
thalassaemia scull x ray
skull bossing maxillary hypertrophy hair-on-end
40
Beta thalassaemia treatment
blood transfusions + desferrioxamine (prevents iron overload)
41
Warm Autoimmune Haemolyitc Anaemia
``` 37C IgG DAT +ve Spherocytes Idiopathic, lymphoma, CLL, SLE, methyldopa ```
42
Cold Agglutinin Disease
``` <37C IgM DAT +ve Raynauds Idiopathic, lymphoma, infections: EBV, mycoplasma ```
43
Warm Autoimmune Haemolyitc Anaemia Tx
steroids splenectomy immunosuppression
44
Cold Agglutinin Disease Tx
treat underlying condition avoid cold chlorambucil (chemo)
45
Paroxysmal Cold Haemoglobinuria
Hb in urine Viral infection - measles, syphillis, VZV Donath-Landsteiner Ab - stick to RBCs ub cold - complement mediated haemolysis in rewarming (self limiting - IgG dissociate at higher temp than IgM)
46
Paroxysmal nocturnal haemoglobniuria
acquired loss of GPI surface markers (protective) Complement mediated lysis Chronic intravascular haemolysis (NIGHT) morning haemoglobinuria, thrombosis(+ Budd Chiari Syndrome) Immunophenotyping or Ham's Test
47
Paroxysmal nocturnal haemoglobinuria treatment
iorn/folate supplement Prophylactic vaccine, Ab Eculizimab (expensive) - prevents complement binding
48
TTP Ab
anti-ADMTS13
49
TTP
1. MAHA 2. fever 3. renal impairment 4. focal neurology 5. thombocytopenia
50
TTP pentad
1. MAHA 2. fever 3. renal impairment 4. focal neurology 5. thombocytopenia
51
HUS pathophysiology
E.coli toxin damages endothelial cells = fibrin mesh and RBC destruction
52
HUS features
MAHA, diarrhoea, renal failure | Children/ elderly
53
Acute Leukaemia feautres
rapid onset death in w-m if untreated immature cells (blasts) BM failure - anaemia, neutropenia, thrombocytopenia
54
Acute Pro Myelocytic Leukaemia mutation
t(15;17) translocation = PML-RARA fusion gene
55
AML Chromosomal translocations
t(15;17) = promyelocytic leukaemia (M3) t(5;8) inv(16)/ t(16;16) = good prognosis
56
AML Chromosomal duplications
+ chr 8 | + chr 21 (i.e. Trisomy 21) - increased risk AML and ALL
57
Chromosomal Loss/ deletion
5/5q - parital loss of chr 5 | 7/7q - total loss of chr 7
58
AML molecular abnormalities
point mutations NPM1 = good prognosis CEBPA = good prognosis (both alleles) partial duplication FLT3 = bad prognosis event
59
Multiple hit hypothesis
AML requires at least 2 interacting molecular defects - synergise to give leukaemic phenotype Type 1 abnormality - promote proliferation and survival Type 2 abnormalities - block differentiation (CML - single mutation may be sufficient to cause disease)
60
Acute Pro Myelocytic Leukaemia clinical features
excess abnormal promyelocytes a/w DIC (due to hyperactive fibrinolysis) must be diagnosed early to prevent death from haemorrhage
61
Acute Pro Myelocytic Leukaemia blood film
blasts (no present in aleukaemic leukaemia) multiple auer rods hypergranular
62
Multiple hit hypothesis - in acute pro myelocytic leukaemia
Type 1 abnormality - FLT3-ITD | Type 2 abnormalities - t(15;17) PML-RARA
63
Multiple hit hypothesis - Core Binding factor (CBF) Leukaemias
Type 1 abnormality - KIT mutation | Type 2 abnormalities - CBF function mutation
64
inv(16)/ t(16;16)
good prognosis | some maturation to abnormal eosinophil precursor - giant purple granules
65
AML bloodfilm
``` Auer rods (fusion of primary granules in crystal) Granular cells ```
66
AML cytochemistry (less used nowadays)
``` Positive staining for myeloperoxidase non-specific esterase sudan black B - these stains are negative in ALL ```
67
Immunopheonotyping ALL
Pre-B cell: CD19, Cd20, CD10, TdT B cell: CD19, CD20, surface Ig T cell: CD2, CD3, CD4, CD8, TdT
68
Immunopheonotyping AML
MPO CD13, CD33, CD14, CD15 Glycophorin E Platelet Antigens
69
Immunopheonotyping ALL and AML
CD34 CD45 HLA-DR
70
DIC in leukaemia
DIC presents as vascular obstuction (even gangrene) and due to sepsis (BM failure) In pro-myelocytic - due to hyperactive fibrinolysis (substances secreted from leukaemic cells)
71
Clinical features of AML - eyes
retinal haemorrhages/ retinal exudates | due to hyperviscosity if WCC is +++ also due to thrombocytopenia
72
Clinical features of ALL
``` BM failure (anaemia, thrombocytopenia, neutropenia) Lymphadenopathy ++ Thymic enlargment - T cell HSM Testes, CNS, other site Painful bones in children ```
73
ALL mutations good prognosis
Hyperdiploidy = t(12;21), t(1;19) | t(9;22) - Ph+ Chr - prev poor prognosis - now GOOD with TK inhibitors - IMATINIB
74
ALL mutations poor prognosis
Hypodiploidy = t(4;11)
75
ALL B and T cell percentages
``` T-lineage = 15% B-lineage = 85% ```
76
ALL Treatment - specific therapy
CNS directed therapy - propensity to cross BBB and migrate into CSF - drugs directly injected or high dose to cross BBB (+ systemic chemo)
77
PV gene mutation
JAK2 V617F mutation (100%)
78
ET gene mutaiton
JAK2 - 60% Calreticulin - 30% MPL - 5%
79
PMF gene mutaiton
JAK2 - 60% | Calreticulin - 30%
80
PV Treatment
Venesection Hydroxycarbamide target HCT <45%
81
ET Treatment
Aspirin - prevent thrombosis Hydroxycarbamide - anti metabolite Anagrelide - specifically inhibits platelet formation (SE - palpitations, flushing)
82
MF investigations
Tear drop poikilocytes (dacrocyte) Leukoerythroblasts (primitive cells) BM dry tap
83
Poor prognosis in MF
Severe anaemia <100g/L Thrombocytopenia <100x10^19 Massive splenomegaly Prognostic scoring system DIPPS Score 0 - median survival 15y Score 4-6 - median survival 1.3y
84
MF treatment
Hydroxycarbamide, thalidomide Supportive Allogenic SCT Ruxolotinib - high prognostic score cases
85
MF cell signal inhibitor
Ruxolitinib (JAK2 inhibitor)
86
ALL TK inhibitor
IMATINIB (PH+ ALL)
87
Hodgkin Lymphoma staining
CD15 | CD30
88
Hodgkin Lymphoma tissue diagnosis - characteristic cell
Reed-Sternberg Cells (owl eye) | Bi/multi-nucleate
89
Hodgkin Lymphoma Staging
Ann-Arbor S1 One LN region S2 Two or more LN regions on same side of diaphragm S3 Two or more LN regions on opposite side of diaphragm S4 extranodal sites (liver, BM) A - no constitutional symptoms B - constitutional symptoms ('B' symptoms)
90
Hodgkin Lymphoma Treatment
1. Combination chemo (ABVD) adriamycin, bleomycin, vinblastine, decarbgazine 2. Radiotherapy (high risk breast cancer) 3. Intensive Chemo and Autologous SCT
91
NHL - H. Pylori
Gastric MALT (mucosa associated lymphoid tissue) Marginal Zone NHL of stomach
92
NHL - Sjogrens
Marginal Zone NHL of Parotid lymphoma
93
NHL - Coeliac disease
Small bowel T cell lymphoma | EATL (enteropathy associated T-Cell Non Hodgkin lymphoma)
94
NHL - HTLV
HTLV1 infects T cells by vertical transmission Carribean and Japan carriers May develop Adult T cell leukaemia lymphoma (2.5% at 70 years) – very aggressive
95
NHL - EBV
EBV infects B lymphocytes Healthy Carrier state maintained by cytotoxic T cells - kill EBV antigen expressing B cells Loss of T cells function give risk of EBV driven lymphomas HIV 60 fold increase in lymphoma in HIV (high grade B-NHL) Iatrogenic (renal heart pancreas transplant imunosuppression) PTLD (post transplant lymphoproliferative disorder) – prednisolone or cyclosporin
96
NHL Prognosis
LDH, B2 microglobulin – raised in rapidly dividing tumours Albumen – low in sick patients Kidney/BM function – is it obstructing? Wider treatment options in younger patients
97
Classical Hodgkin Lymphomas
Nodular sclerosing 80% Good prognosis (causes the peak incidence in young women) Mixed cellularity 17% Good prognosis Lymphocyte rich (rare) Good prognosis Lymphocyte depleted (rare) Poor Prognosis
98
Nodular Lymphocyte predominant HL
5% - disorder of the elderly multiple recurrences
99
Hodgkin Lymphomas Treatment
``` ABVD Adriamycin Bleomycin Vinblastine DTIC ``` ABVD, is given at 4-weekly intervals. ``` Effective treatment Preserves fertility (unlike MOPP the original chemo) Can cause (long term) Pulmonary fibrosis cardiomyopathy ```
100
LN B Cell area
Lymphoid follicle Mantle zone - naïve unstimulated B cells Germinal center - B cells, Antigen presenting cells This is where B cells which bind antigen epitopes are selected and activated
101
LN T Cell area
T cells Antigen presenting cells High endothelial vessels (T cells interact with APCs) This is where T cells which bind antigen epitopes are selected and activated
102
Immunophenotyping - T and B cell markers
CD 20 = B cell marker | CD 3, CD 5 = T cell marker
103
Protein expressed in B cells of Mantel Cell Lymphoma
Cyclin D1
104
B cell clonality and malignancy
Light chain expression Malignant B cells = monoclonal (kappa or lamda) Normal B cells = poly clonal kappa and lamba light chain expression
105
FISH: Mantle cell lymphoma
t (11;14)
106
FISH: Follicular lymphoma
t (14;18)
107
FISH: anaplastic large cell lymphoma
t (2;5) a/w better prognosis in anaplastic large cell lymphoma
108
Immunophenotyping in CLL (poor prognosis)
CD38 staining
109
Follicular Lymphoma
Lymphadenopathy middle aged/elderly Follicular pattern - whole node is replaced with neoplastic follicles Germinal centre cell origin = CD10, bcl-6+ positive staining May transform to high grade
110
Small lymphocytic lymphoma/CLL
Middle Aged/elderly; lymphadenopathy or high blood code CD5, CD23 + Multiple genetic abnormalities Indolent, but can transform to high grade lymphoma (Richter transformation)
111
Mantle cell lymphoma
``` MA male predominence Lymph nodes, GI tract Disseminated disease at presentation Aberrant CD5, cyclin D1 expression 11;14 translocation Cyclin D1 over expression Median SR 3-5 yrs ```
112
Burkitt’s lymphoma
Jaw or abdominal mass children/young adults Endemic, Sporadic, Immunodeficiency EBV associated Germinal center cell origin “starry-sky” appearance C-myc translocation (8:14, 2:8, 8;22) – removes break on cell cycle Aggressive disease
113
Diffuse large B cell lymphoma
MA/elderly Germinal center or post-germinal center B cell Germinal centre phenotype - CD10+ = better prognosis Sheets of large lymphoid cells Germinal center phenotype = good prognosis p53 positive, high proliferation fraction = poor prognosis
114
Diffuse large B cell lymphoma prognosis
CD10+ = better prognosis | p53 positive, high proliferation fraction = poor prognosis
115
Hodgkin vs Non Hodgkin
Hodgkin More often localised to a single nodal site Spreads contiguously Non-Hodgkin More often involves multiple lymph node sites Spreads discontinuously
116
Classical Hodgkin Lymphoma
Young and MA (double peak) Often involves just single lymph node group Though to be germinal center/post germinal center B cell origin EBV associated Sclerosis, mixed cell population in which scattered Reed-Sternberg and Hodgkin cells with eosinophils Moderately aggressive CD 30 and CD 15 = diagnostic markers for HL
117
Nodular LP (Non Classical) Hodgkin Lymphoma
Isolated lymphadenopathy Germinal centre B cell (positive for some germinal centre B cell markers) No association with EBV B cell rich nodules with scattered L&H cells Indolent Can transform to high grade B cell lymphoma (i.e. transforms to Non-Hodgkin Lymphoma) Reactive population = lymphocytes (eosinophils and macrophages not seen – unlike classical HL) Express CD 20 strongly and diffusely (Negative for CD 30 and 15)
118
CLL vs Small lymphocytic lymphoma (SLL)
CLL - primarily seen in BM | SLL - primarily seen in LN
119
Evan's syndrome
CLL a/w autoimmunity - AIHA, ITP
120
CLL diagnosis
Lymphocytosis >5 (high % of WCC = small, mature lymphocytes) Low serum Ig SMEAR CELLS
121
CLL prognostic factors - poor
Raised LDH CD38+ 11q23 deletion
122
CLL prognostic factors - good
Hypermutated Ig Gene Low ZAP-70 expression 13q14 deletion
123
CLL Staging
Binet Staging A = high WBC, <3 enlarged LN (no treatment) B = >3 enlarged LN C = anaemia or thrombocytopenia
124
CLL treatment
watchful wairting if asymptomatic Supportive p53 +ve - first line = ALEMTUZUMAB
125
Multiple Myeloma Features
CRAB Calcium = high Renal failure (+amyloidosis, nephrotic syndrome) Anaemia (+pancytopenia) Bones (pain, osteoporosis, osteolytic lesions, fractures) (+hyperviscosity) MONOCLONAL Ig (paraprotein) - Bence Jones protein in urine
126
MM staging
Durie-Salmon Staging
127
MM Investigations
``` Narrow band on electrophoresis Rouleaux on blood film Bence-Jones protien in urine ESR +++ >10% plasma cells in BM ```
128
MM vs MGUS vs smouldering MM
MGUS Monoclonal serum protein <30g/L <10% clonal plasma cells No CRAB Smouldering MM Monoclonal serum protein >30g/L <10% clonal plasma cells No CRAB MM Monoclonal serum protein >30g/L Any population of clonal plasma cells CRAB (>1)
129
MM Bone Aspirate Morphology
Mature plasmacytic myeloma cells - clumped chromatin, low nuclear-cytoplasmic ratio, abundant cytoplasm, rare nucleoli Immature plasmacytic myeloma cells - reticular chromatin, less abundant cytoplasm, prominent nucleoli = WORSE PROGNOSIS
130
MM Immunophenotyping
Stain positive for CD138 Stain negative for CD20 (unlike other B cell lymphomas) Cytoplasmic Ig stain (other B cells stain for surface Ig) Kappa/lamda = monoclona
131
Myeloma nephropathy
Paraprotein light chain fragments crystalise in kidney - blockage Proximal tubule necrosis Fanconi syndrome (renal tubule acidosis) Cast nephropathy
132
MM treatment options
``` Steroids Chemotherapy (e.g. mephalan - high dose tx before SCT) IMIDS (e.g. thalidomide) Proteosome inhibtors (e.g. bortezomib) ```
133
MM treatment (path guide)
Supportive + bisphosphonates First line - Bortezomib (proteosome inhibitor) Auto CT curative in young pt Not suitable SCT - daratumumab
134
MM treatment proteosome inhibitors
Build up of misfolded proteins Fatal ER stress E.g. bortezomib, carfilzomib
135
MM treatment IMIDS
IMIDS (e.g. thalidomide) | TF inihibtors
136
Myelodysplastic syndrome morphological feautres
``` WBC - Pelger-Huet anomaly (bilobed neutrophils) - Hypogranulation - Micro megakaryocytes RBC - ring sideroblasts ``` >5% blast cells in BM
137
Myelodysplastic syndrome prognosis
1/3 die from infection 1/3 die from bleeding 1/3 die from acute leukaemia (IPSS-R = prognosis)
138
Fanconi Anaemia
Inherited AA - opanytopenia Autosomal recessive Skeletal abnormalities, renal malformations, microopthalmia, short stature, skin pigmentation
139
Dyskeratosis Congenital
X linked most commonly DKC1 gene - defective telomerase function Autosomal dominant - mutated TERC gene encodes telomerase RNA
140
Dyskeratosis Congenital
1. Skin pigmentaiton 2. Nail dystrophy 3. Oral leukoplaskia (+ BM failure)
141
Blood transfusions acute adverse reactions <24h
``` Acute haemolytic (ABO incompatibility) Anaphylaxis/ allergy Infection (bacterial) Febrile non-haemolytic TACO TRALI ```
142
Blood transfusions delayed adverse reactions >24h
``` Delayed haemolytic (ABO incompatibility) Infection (viral, malaria, VCJD) TA-GVHD Post transfusion purpura Iron overload ```

Sophia's Path (8 decks)

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