Haem - ix Flashcards

Question 1

Q

Iron deficiency anaemia on blood film

Answer

A

Anisopoikilocytosis
Pencil cells
Hypochromic + microcytic

Question 2

Q

Iron studies in anaemia of chronic disease

Answer

A

Decreased/Normal transferrin
Decreased TIBC
Normal transferrin saturation
Increased ferritin
Increased herpcidin 
Normocytic or mcrocytic anaemia

Question 3

Q

Iron studies in iron deficiency anaemia

Answer

A

Increased transferrin
Increased TIBC
Decreased transferrin saturation
Decreased ferritin

Question 4

Q

Hb electrophoresis to ix 2 diseases

Answer

A

Sickle cell disease

Thalassaemia

Question 5

Q

Sickle cell anaemia ix

Answer

A

Hb electrophoresis
Blood film
Howell- Jolly bodies (usually removed by spleen, therefore also a marker of hyposplenism (elderly patient))
Sickle cells

Question 6

Q

G-6-PD deficiency on blood film

Answer

A

Heinz bodies (occur in oxidative stress not specific to G-6-PD but most cases of oxidative stress are caused by G-6-PD deficiency) - active haemolysis
Bite cells - previous haemolysis

Question 7

Q

Mutation classically assosciated with polycythaemia vera and myelofibrosis

Answer

A

JAK2 V617F

Question 8

Q

E coli strain causing HUS

Answer

A

EHEC O157H7

Question 9

Q

HUS ix

haemolytic uraemic syndrome

Answer

A

FBC – anaemia, thrombocytopenia
Blood film – schistocytes
LDH – increased
Haptoglobin – decreased
LFTs - increased unconjugated bilirubin
U+Es - increased Cr, low Na, high K, low HCO3 (acidosis), high PO43- – abnormalities may be present due to diarrhoea + AKI

• PT, PTT – normal (to rule out other causes of thrombocytopenia e.g. DIC) but reduced values may be seen during active HUS

• Stool culture on sorbitol-MacConkey agar
o To detect Shiga producing E. coli
o Shiga-toxin producing E. coli cannot ferment sorbitol + appear as white colonies
• PCR
o To detect Shiga toxin 1/2

• Proteins involved in complement regulation
o Ordered initially if familial disease is suspected
o Abnormal levels of complement

The clotting screen is normal in HUS

Question 10

Q

Myelofibrosis ix

Answer

A

• FBC - ?anaemia
• Peripheral blood film
o Hallmark of PMF – promyelocytes, myelocytes, metamyelocytes, myeloblasts, nucleated RBC
o Other findings – leuko-erythroblastosis, TEARDROP POIKILOCYTOSIS, large platelets, megakaryocyte fragments
o Thrombocytosis more common than thrombocytopenia

• BM aspiration
o “Dry tap” – buzzword!
o Unable to aspirate marrow because of presence of marrow fibrosis

• BM biopsy
o Marrow fibrosis (increased reticulin deposit)

XRays – increased bone density, prominence of bony trabeculae
JAK2 V617F mutation present in 45-68% of patients

Question 11

Q

Diagnosis of PMF as defined by WHO

Answer

A

A1+A2 plus any 2 B
• A1 – bone marrow fibrosis >3 (0-4 scale) - dry tap, increased reticulin deposit
• A2 – pathogenic mutation (e.g. in JAK2 or MPL) or absence of both BCR-ABL1 (CML) + reactive causes of bone marrow fibrosis

B1 – palpable splenomegaly
B2 – unexplained anaemia (anaemia is normocytic)
B3 – leuko-erythroblastosis
B4 – tear-drop RBC
B5 – constitutional symptoms
B6 – histological evidence of extramedullary haematopoiesis

Question 12

Q

DIC ix

Answer

A

Low Hb (MAHA is a component of DIC)
Low platelets
PT + APTT - prolonged

• Fibrinogen - low
o Low due to excessive consumption

• D-dimer/fibrin degradation products/soluble fibrin – high
o Evidence of plasmin-mediated biodegradation of fibrin + fibrinogen

Peripheral blood film – schistocytes (MAHA)
Other findings – low natural anticoagulants (antithrombin, protein C)

• Factor V, VIII, X, XIII - low
o Ix to consider
o If specific/multiple coagulation factor deficiencies are suspected, measurement of coagulation factors helps in choosing a specific replacement therapy

Question 13

Q

DIC scoring system + scores

Answer

A

• Platelet count
o >100,000 – 0
o 50,000-100,000/microL – 1
o <50, 000/microL - 2

• Increase in fibrin markers (e.g. d-dimer, fibrin degradation products)
o No increase – 0
o Moderate increase – 2
o Strong increase – 3

• PT prolongation (N: 11-12.5s)
o <3s – 0
o >3 - <6 – 1
o >6 – 2

• Fibrinogen level
o >1 g/L - 0
o <1 g/L -1

> 5 – overt DIC, repeat score daily
<5 – non-overt DIC – repeat next 1-2 days

Question 14

Q

TTP ix

Answer

A

Plt count – decreased
Hb - <80
Haptoglobin – decreased (as a result of haemolysis)
Blood film – schistocytes (hallmark of the disease)
Reticulocyte count – raised
U+Es – raised
LDH – raised
Unconjugated bilirubin – raised
Serological tests – HIV, HBV, HCV, auotantibody screen, pregnancy test
Urinalysis – proteinuria, microscopic haematuria
Direct Coombs’ test – to rule out MAHA Ix to consider
ADAMTS-13 activity assay – decreased activity
Anti-ADAMTS13 antibodies

Question 15

Q

ITP ix

Answer

A

• FBC + blood film
o Isolated thrombocytopenia (<100 x 10^9 /L) (in the absence of an identifiable cause)
• Clotting screen (normal PT, APTT, fibrinogen)

• No testing for ab or BM examination - Autoantibodies (antiplatelet antibody may be present but not used routinely for diagnosis, anticardiolipin antibody, antinuclear antibody)

Question 16

Q

Hodgkin’s lymphoma ix

Answer

A

• CXR – mediastinal lymphadenopathy

• Excisional lymph node biopsy
Multinucleated giant cells (Reed-Sternberg cell aka Owl’s eyes)
Popcorn cells (lymphocytic + histiocytic cell)

PET-CT – staging, most common radiotracer is fluorodeoxyglucose (FDG), after chemotherapy to confirm response before commencement of consolidative radiotherapy
BM biopsy for staging
Immunohistochemical studies – to differentiate HL from other lymphomas, CD30+
Ann Arbor staging system

• FBC
o Low Hb + plt 2y to BM involvement
o Exclude leukaemia, mononucleosis, other causes of lymphadenopathy

ESR - elevated
Metabolic panel – performed to evaluate baseline liver + renal function prior to commencement of treatment (increase in LDH, decrease in albumin has prognostic significance)
HIV tests – necessary in patients with suspected Hodgkin’s lymphoma

Question 17

Q

Non-Hodgkin’s lymphoma ix

Answer

A

•	FBC
o	Thrombocytopenia (liver or BM involvement)
o	Pancytopenia (BM involvement))

• Blood smear
o Nucleated RBC
o L shift (BM involvement), L shift – early WBC precursors
o NO Reed Sternberg cells

• Tissue sampling (e.g. skin, lymph node, BM)
o Helpful in establishing dx + staging (should be sent for flow cytometry, immunohistochemistry, cytogenetics)

• CXR
o Mediastinal adenopathy
o Pleural or pericardial effusions
o Parenchymal involvement

Basic metabolic panel – assesses kidney, electrolyte, glucose function
LFTs – liver involvement with lymphoma
LDH – indirect indicator of the proliferative rate of lymphoma
Serology – HIV, HTLV-1, HCV

• To determine tumour surface markers - establishes type of lymphoma

Flow cytometry (performed on blood, BM, lymph node suspensions, body fluids)
Immunohistochemistry (performed on tissues)

• To distinguish malignant lymphoma from benign conditions (hyperplasia, inflammation)

PCR for tumour markers (when little material is available)
Immunoglobulin gene rearrangement studies

• Cytogenetics studies +/- fluorescence in situ hybridisation (FISH)
o Identifies chromosomal translocations
o Essential for dx of Burkitt’s lymphoma

• LP
o Any lymphoma with neurological signs
o Lymphomas with high risk of CNS relapse
o Abnormal cells, low glucose, high protein, high pressure

• For staging
o PET scan
o CT scan

• Ann Arbor staging system

Question 18

Q

Malaria ix

Answer

A

• Giemsa-stained thick and thin blood film - gold standard
o Venous blood specimen in an EDTA tube
o Detection of asexual or sexual forms of the parasites inside erythrocytes
o Thick – identifies that parasites are present, thin – identifies species
o Where the blood film is negative, at least 2 further films should be obtained over the subsequent 48h before excluding the diagnosis

• PCR
o Useful in specimens where parasitaemia may be below the detectable level of blood film examination
o Species identification if difficulties on microscopy

• Rapid diagnostic tests (RDTs)
o Immunochromatographic tests
o Detect presence of malaria antigen or enzyme
o Give a visible band after 15 minutes if positive

• FBC
o Anaemia common with all species
o Thrombocytopenia common with Plasmodium falciparum

• Urinalysis
o Severe Plasmodium falciparum infections - massive haemolysis + acute tubular necrosis - acute renal failure with haemoglobinuria + proteinuria

• ABG
o Severe malaria - tissue hypoxia due to - microvascular obstruction, impaired RBC deformability, anaemia, hypovolemia, hypotension - lactic acidosis, impaired level of consciousness
• U+Es – may show low Na+, increased creatinine
• LFTs – often abnormal
• Low glucose

Question 19

Q

How is the diagnosis of myelodysplasia made?

Answer

A

Diagnosis of MDS is typically made by
•	Excluding other non-MDS causes of cytopenias
 •	Presence of some combination of
   Dysplastic cell morphology
   Increased marrow blasts
   Karyotypic abnormality

Question 20

Q

Myelodysplasia ix

Answer

A

•	FBC – one or more cytopenias
o	Anaemia – Hb <100g/L
o	Normocytic or macrocytic RBC 
o	Neutropenia
o	Thrombocytopenia

• Blood film
o Dimorphic RBC
o Oval macrocytic red cells
o Pappenheimer bodies
o Basophilic stippling
o Dysplasia evidenced as –> erythrocytes with anisocytosis (varying sizes) and poikilocytosis (abnormal shape)
o Granulocytes with ABSENT granulation + HYPOSEGMENTED nuclei

• Reticulocyte count
o Inappropriately normal or low – inadequate reticulocyte response for degree of anaemia

• Serum EPO
o Elevated
o Except in concurrent renal failure where it’s low

• BM aspiration with iron stain
o Amount of dysplasia + proportion of undifferentiated myeloblasts
o Single or multilineage dysplasia
o Bone marrow blasts <20%
o Prussian blue iron staining of BM aspirate – ringed sideroblasts (abnormal erythroid precursor cells which have granules around the nucleus)

• BM core biopsy
o Hypercellular marrow due to ineffective haematopoiesis
o Commonly shows megaloblastoid erythropoiesis

• BM cytogenetic analysis
o Can detect chromosomal abnormalities, characteristic of MDS
o Deletion, monosomy, trisomy usually affecting Chr 5, 7, 8

• HLA typing
o For candidates for haematopoietic stem cell transplantation
o For candidates requiring extensive platelet transfusions

RBC folate, Serum B12, Iron studies (serum iron, TIBC, ferritin) – to rule out other causes of anaemia
HIV testing – to rule out other causes of cytopenias

Question 21

Q

Haemophilia ix

Answer

A

APTT – prolonged (intrinsic pathway affected)
Plasma factor VIII + IX assay – decreased or absent
FBC – anaemia if significant bleeding, performed to rule out thrombocytopenia
PT, bleeding time, fibrinogen levels, von Willebrand factor - normal (extrinsic pathway not affected)
Mixing study – correction of the APTT with mixing patient plasma w normal plasma suggests coagulation factor deficiency

For complications
CT head – haemorrhage
MRI, Doppler US – arthropathy
Abdominal US + endoscopy – GIB

Question 22

Q

Haemochromatosis ix

Answer

A

•	Haematics
o	TIBC – low
o	Transferrin – low
o	Transferrin saturation – high
o	Serum ferritin - high
o	Serum iron - high

• Serum fasting transferrin saturation
o Phenotypic hallmark of the disorder
o First laboratory test to become abnormal
o >45%

• Serum ferritin
o Most widely used biochemical test for iron overload – high sensitivity
o Acute inflammatory protein – low specificity
o >674 picomols/L (>300 ng/mL) in meno
>449 picmols/L (>200 ng/mL) in women

• HFE genetic testing
o Initial HFE mutation analysis should evaluate C282Y and H63D polymorphisms in all patients with otherwise unexplained increased serum ferritin + increased transferrin saturation
o C282Y mutation homozygosity is the most common genetic abnormality associated with the disease in patients of northern European descent
o Should only be performed in those with increased transferrin saturation

• MRI liver
o Detects + quantifies hepatic iron excess

• Liver biopsy
o The most sensitive + specific test for measuring liver iron content
o No longer necessary to diagnose haemochromatosis, genetic testing is very reliable

•	Hand XR
o	Squared-off bone ends 
o	Hook like osteophytes
o	Joint space narrowing
o	Sclerosiso	Chondrocalcinosis (radiographic calcification in hyaline +/or fibrocartilage)
o	Cyst formation

• Echocardiogram
o Should be performed in patients with a raised ferritin level
o Haemochromatosis can lead to cardiomyopathy + conduction abnormalities leading to arrhythmias
o Mixed dilated-restrictive or dilated cardiomyopathy

• Testosterone, FSH, LH assays
o Hypogonadism is the second most common endocrine disorder associated with the disease after diabetes

Question 23

Q

How to exclude differentials for hyperferritinaemia

Answer

A

Inflammation – check CRP
Chronic alcohol consumption
Liver cell necrosis – check ALT
Metabolic syndrome – check BP, BMI, triglycerides, glucose
Anaemia – check Hb, MCV

Question 24

Q

ALL ix

Answer

A

• FBC with differential
o Normochromic normocytic anaemia with low reticulocyte count
o Leucocytosis, neutropenia, thrombocytopenia

• Blood film
o Leukaemic lymphoblasts

• BM aspiration + trephine biopsy
o Presence of >20% lymphoblasts
o BM hypercellularity
o Wright or Giemsa stain

• Immunophenotyping (on BM or peripheral blood)
o ALL blasts express surface antigens + molecular markers that help to identify their specific lineage (i.e. the fact that they are lymphoid cells)
o In ALL blast cells are +ve for terminal deoxynucleotidyl transferase
Lack staining for myeloperoxidase
Will not have granules in the cytoplasm(compared to AML)

LP - to detect cerebral involvement
FISH can detect t(12;21) forming the ETV6-RUNX1 fusion gene on Chr12
Check liver (infiltration) + kidney (uric acid deposition) function

• Clotting
o DIC may occur – this produces an elevated PT, decreased fibrinogen, presence of FDP

• Serum electrolytes
o Degree of uric acid elevation – reflects extent of tumour burden
o Hypercalcaemia – bony infiltration, ectopic release of PTH
o Hyperphosphatemia – ineffective leukopoiesis, chemotherapy induced tumour lysiso Hyperkalaemia - leukaemic cell lysis
o LDH – raised

Leucocytes smear + stain with Periodic acid achiff stain

Question 25

Q

AML ix

Answer

A

• FBC with differential
o Macrocytic anaemia
o Leucocytosis, neutropenia, thrombocytopenia

• Blood film
o Hypergranulated blasts with AUER RODS
o Not sufficient to establish dx of AML, BM biopsy required

• BM aspiration + trephine biopsy – diagnostic procedure
o Presence of >20% blasts
o BM hypercellularity
o Auer rods
o Immunophenotyping + immunochemistry required to confirm the dx

• Immunophenotyping (on BM or peripheral blood)
o To distinguish between AML+ ALL
o Granules in cytoplasm, will express myeloid peroxidase in those granules, may have auer rods

• Coagulation panel
o PT, APTT, D-dimer (may be mildly prolonged with normal fibrinogen + d-dimer)
o If all tests are abnormal (prolonged PT + APTT, raised d-dimer) - suspect DIC

• Serum electrolytes
o Degree of uric acid elevation – reflects extent of tumour burden
o Hypercalcaemia – bony infiltration, ectopic release of PTH
o Hyperphosphatemia – ineffective leukopoiesis, chemotherapy induced tumour lysis
o Hyperkalaemia - leukaemic cell lysis
o LDH raised

stains with Sudan black (preferentially stains myeloblasts against lymphoblasts and so is useful in the differentiation of AML and ALL)

Question 26

Q

CLL ix

Answer

A

• FBC with differential
o Absolute lymphocytosis (>5000 monoclonal B lymphocytes/mcL in peripheral blood for at least 3 months)
o Anaemia (31%)
o Thrombocytopenia (16%)

• Hypogammaglobulinaemia (predisposes to persistent infections)

• Blood film
o Lymphocytosis
o Smudge cells/smear cells present
o Small mature lymphocytes
o Narrow border of cytoplasm
o Dense nucleus lacking discernible nucleoli + having partially aggregated chromatin
o Spherocytes + polychromasia if there is active haemolysis (autoimmune haemolytic anaemia)

• BM aspirate
o Lymphocytic replacement of normal marrow elements

• Flow cytometry of peripheral blood (immunophenotyping)
o Most valuable test to confirm CLL
o Circulating clonal B lymphocytes express cell surface markers typical of CLL (dim surface Ig, CD5, CD19, CD20, CD23)

Question 27

Q

CML ix

Answer

A

• FBC with differential
o Elevated WBC
o Normochromic normocytic anaemia
o Differential – granulocytes at all stages of development, increased number of eosinophils + basophils

•	Blood film
o	WBC are mature/maturing myeloid cells 
o	Elevated basophils and eosinophils 
o	Myeloblasts
o	Granulocytosis

• BM biopsy
o Granulocytic hyperplasia
o Hypercellular BM

• Cytogenetics
o Philadelphia chromosome t(9,22)

• Quantitative reverse transcription PCR (qRT-PCR) incl breakpoint analysis
o Detection of BCR-ABL fusion

•	FISH (fluorescent in situ hybridisation)
o	t(9,22) positive

• Complete metabolic profile
o K, LDH, uric acid – may be elevated due to extensive cell turnover

Question 28

Q

Multiple myeloma ix

Answer

A

• Serum/urine electrophoresis + Bence Jones protein urine assessment
o Diagnostic test for MM
o Serum protein electrophoresis - MONOCLONAL IgG (or IgA) band
o Urine - positive for Bence Jones protein (immunoglobulin light chain)
o Paraprotein spike (IgG > 35 g/l or IgA >20 g/L + light chain urinary excretion >1g/day)
o Hypogammaglobulinaemia

• BM aspirate + trephine biopsy
o Diagnostic test for MM
o Monoclonal plasma cell infiltration in the bone marrow >10%

•	Peripheral blood film
o	Rouleaux (aggregations of RBC)

• Serum free light-chain assay
o Increased concentrations of free light chain in serum

• Immunofixation of serum + urine
o To confirm the presence of a paraprotein

•	MRI
o	Gold standard to determine the extent of myeloma bone disease (also used to investigate possible spinal cord compression)
o	Osteopenia
o	Osteolytic lesions
o	Pathological fractures

• FBC
o Normocytic + normochromic anaemia
o Reduced blood cell counts resulting from bone marrow infiltration

•	Serum calcium, plasma viscosity, ESR, CRP, Urea + Cr, ALP
o	Hypercalcaemia
o	Hyper viscosity
o	Elevated ESR
o	Elevated CRP
o	Elevated Urea + Cr
o	NORMAL ALP

• Serum urea, creatinine, electrolytes, albumin, ALP
o Increased tumour cell turnover - raised uric acid
o Cr >176 mmol/L in renal impairment
o Total protein concentration usually raised in MM
o ALP is NORMAL (osteoblasts produce ALP whereas in MM only osteoclasts are activates)

• XR of symptomatic areas for people with bone pain
o To rule out pathological fractures
o Skull - multiple “punched out” lucencies within the skull vault

Question 29

Q

Criteria for the diagnosis of MM (all 3 needed)

Answer

A

Monoclonal plasma cells in marrow >10%
Monoclonal protein in serum or urine

• Evidence of myeloma-related organ or tissue impairment
o Hypercalcaemia (>2.6 mmol/L)
o Renal insufficiency (serum Cr >176.8 μmol/L)
o Anaemia (Hb <100g/L or 20g below normal range)
o Lytic bone lesions, osteoporosis, pathological fractures (osteolytic lesions, pepperpot skull, pathological fractures))

[CRAB – calcium, renal impairment, Anaemia (+ neutropenia, thrombocytopenia), Bone pain/lesions]

Question 30

Q

Sickle cell disease ix

Answer

A

Diagnosis made during a sickle cell crisis if there is no newborn screening
To confirm dx
• Hb Electrophoresis
o Most commonly used test to determine the presence of HbS

FBC
• Normocytic anaemia
• Normal MCV (80-100)
• Increased reticulocyte production index >2%

Due to intravascular + extravascular haemolysis
• Increased LDH
• Decreased haptoglobin + decreased free plasma Hb
• Increased Unconjugated bilirubin

• Blood film
o High reticulocyte count (do not have a nucleus, but you can see the rRNA staining)
o Nucleated RBC
o Anisocytosis
o Sickle cells
o Howell Jolly bodies (hyposplenism)
o Target cells (hyposlenism)
o Reticulocytes increased in haemolytic crises + decreased in aplastic crises
o In patients wit very low reticulocyte counts (<1%), parvovirus infection should be strongly considered

• DNA based assays/ high performance liquid chromatography
o Confirm diagnosis + further identify the genotype
o Allow distinction between heterozygotes + homozygotes

Other tests
• Sickle solubility test – a mixture of HbS in a reducing solution (e.g. sodium dithionite) gives a turbid appearance (precipitation of HbS), whereas normal Hb gives a clear solution
• Sickling of red cells on blood film with 2% sodium metabisulphite

Question 31

Q

Thalassaemia ix - generally

Answer

A

Blood
•	FBC
o	Decreased Hb
o	Low MCV, Low MCH
 o	Increased RBC
o	Increased reticulocytes
o	Increased WBC - from bone hyperplasia
o	Platelet count may be decreased in splenomegaly or increased in bone hyperplasia

•	Blood film
o	Microcytic, hypochromic anaemia
o	Reticulocytes 
o	Target cells
o	Polychromasia
o	Red cell fragments 
o	Tear drops

• Bone marrow
o Hypercellular with erythroid hyperplasia

Increased serum Fe
Increased ferritin

• Electrophoresis
o HbA2 >3.5%

If microcytosis is found - tests for iron deficiency + anaemia of chronic disease, testing for thalassaemia considered in patient of appropriate family originImaging
Skull XR – “hair-on-end” appearance, facial deformity and non-pneumatisation of the maxillary sinuses
CXR may show an enlarged heart + cardiac failure
CT/MRI – used to evaluate amount of iron in the liver in patients on chelation therapy

Other tests
• ECG + echo – monitor cardiac function
• Liver biopsy to assess iron deposition + degree of haemochromatosis

Question 32

Q

Thalassaemia ix specifically for HbH or Hb Bart

Answer

A

All the general ix and
• Electrophoresis – only for diagnosing HbH + Hb BartHbH
• Brilliant cresyl blue staining of RBC
o HbH inclusions in peripheral RBC - Heinz bodies represent β-chain tetramers
• HbH is unstable + precipitates in the erythrocyte, giving it the appearance of a golf ball

Question 33

Q

Thalassaemia B ix

Answer

A

All the general ix and
• Haemoglobin analysis
o Beta thalassaemia trait – mostly HbA, increased HbF, increased HbA2
o Beta thalassaemia major - decreased HbA, increased HbF, increased HbA2

• LFTs
o Performed in patients with beta-thalassaemia intermedia + major
o Increased unconjugated bilirubin - jaundice, gallstones
o Increased LDH

Question 34

Q

VWD ix

Answer

A

Type 1+3 or type 2 depends on if there is or if there’s not of FVIII deficiency

• Factor VIII measurement
o FVIII binds to VWF which in turn prevents breakdown of factor VIII - deficiency of VWF can also lead to factor VIII deficiency (Type 1 + Type 3)
o In type 2, VWF-FVIII levels are normal - studies of platelet aggregation with sub-endothelium are necessary

• PT – measures extrinsic pathway, normal (12-15s)

APTT – measures intrinsic pathway, prolonged if FVIII activity is decreased (>34s)
Normal platelet count + morphology
Decreased platelet aggregation, presence of ristocetin
Abnormal PFA-100 test (because of decreased platelet aggregation)

• Plasma levels of VWF
o Quantitative deficiency – detected by VWF antigen assay (diagnostic for VWD if <30%)
o Qualitative deficiency – glycoprotein binding assay, ristocetin cofactor, risocetin-induced platelet agglutination

• Type 2 VWD
o Ratio of VWF: VWF antigen <0.6

• Collagen-binding function reduced

↑ APTT, ↑ bleeding time, ↓ vWF levels, N plts, normal PT, (↓ factor 8 if VWD T1 or T3)

Question 35

Q

PV ix polycythaemia vera PCV

Answer

A

• Increased Hb
o >165 g/L in men
o >160 g/L in women
o In the setting of hypoxia repeat test several weeks after the hypoxia has been corrected

• Increased HCT
o >52% in men
o >48% in women

• Increased RBC mass
o Gold standard in ruling out PV when Hb/Hct is equivocal or affected by certain clinical conditions e.g. volume overload
o Therefore in secondary polycythaemia RBC are raised

• Decreased ferritin
o In polycythaemia vera, ferritin is often low because of increased demand for iron
o In secondary polycythaemia it is usually normal

• BM biopsy – can also be normal
o Hypercellularity with trilineage growth (panmyelosis)
o Prominent erythroid, granulocytotic, megakaryocytic proliferation
o Pleomorphic, mature megakaryocytes
o Tear drop cells
o Leucocytosis
o Thrombocytosis
o Can also look for signs of fibrosis in the spent stage

• JAK2 V617F gene mutation usually present

Increased WBC
Incrased Plt
Decreased MCV
Decreased EPO

• Increased serum uric acid
o Due to rapid cell turnover from expanded haematopoiesis
o Elevated levels predispose to gout + urate kidney stones

Question 36

Q

Criteria for PV dx

Answer

A

Need
2 major + 1 minor criteria
Or
1st major criterion + 2 minor criteria

Major criteria
• Hb >185 g/L (M), >165 g/L (F) (or elevated RBC mass >25% above mean normal predicted value)
• Presence of JAK2 V617F mutation (or other functionally similar mutations such as the exon 12 mutation of JAK2)

Minor criteria
• BM biopsy
o Hypercellularity
o Prominent erythroid, granulocytic, megakaryocytic proliferation
• Serum EPO level below normal range
• Endogenous erythroid colony formation in vitro

Question 37

Q

Antiphospholipid syndrome ix

Answer

A

• Anti-phospholipid antibodies must be positive on 2 occasions, 12 weeks apart:
o Anticardiolipin antibodies
o Anti-b2-glycoprotein I antibody
o Lupus anticoagulant

• FBC
o Thrombocytopenia may be present often due to an immune mechanism or the presence of another autoimmune disease (ITP)

o APTT prolonged due to antibodies against phospholipids

Question 38

Q

Diagnosis of antiphospholipid syndrome

Answer

A

For the diagnosis you need at least one of the clinical criteria + at least one of the laboratory criteria to be present
Clinical criteria
• Hx of vascular thrombosis - >1 episodes of arterial, venous, small vessel thrombosis
• Pregnancy complications

Laboratory criteria
• Anti-cardiolipin antibody
• Anti-b2-glycoprotein I antibody
• Lupus anticoagulant

Question 39

Q

How would you differentiate ITP from TTP on a blood film?

Answer

A

ITP
Normal morphology of RBC, WBC, thrombocytopenia

TTP
fragmented RBC (schistocytes)
thrombocytopenia

Question 40

Q

Blood film - hyposplenism

Answer

A

Howell Jolly bodies
Target cells
Pappenheimer bodies
Siderotic granules

Question 41

Q

Blood film - iron deficiency anaemia

Answer

A

Target cells
pencil poikilocytes

if combined with B12/folate deficiency a “dimorphic” film occurs with mixed microcytic + macrocytic cells

Question 42

Q

Blood film - myelofibrosis

Answer

A

Tear drop poikilocytes

Question 43

Q

Blood film - intravascular haemolysis

Answer

A

Schistocytes

Question 44

Q

Blood film - megaloblastic anaemia

Answer

A

Hypersegmented neutrophils

Question 45

Q

Most appropriate ix to determine iron stores in the body

Answer

A

Serum ferritin
(because it originates from the storage pools in the BM, spleen and liver)
only accurate if CRP is normal

Question 46

Q

Aplastic anaemia ix

Answer

A

LOW
o	RBC
o	WCC
o	plt
o	reticulocytes

RAISED
• EPO
• MCV
• bleeding time (low platelets)

o For dx, at least 2 of the following peripheral cytopenias must be present
 Hb <100g/L
 Plt <50 x 10^9/L
 Absolute neutrophil count <1.5 x 10^9/L
PANCYTOPENIA

• BM biopsy – hypocellular bone marrow with no abnormal cells
o Required for definitive dx
o decreased counts of haematopoietic stem cells with normal cellular morphology
o HYPOCELLULAR marrow – dry tap
o Absence of any infiltrative disorder (e.g. malignancy, fibrosis, dysplasia, blasts) – no abnormal cells

o MACROCYTIC anaemia

Question 47

Q

Pernicious anaemia ix

Answer

A

90% demonstrate anti-parietal ab

60% have anti-IF ab (more specific) intrinsic factor

Question 48

Q

Ann arbor system for the staging of lymphoma

Answer

A

I – one node region involved
II – 2+ ipsilateral regions
III – bilateral node involvement
IV – extranodal disease

A – B symptoms abent
B – symptoms present (worse prognosis)

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Haem - ix Flashcards

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