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RACP Study - Haematology > Anaemia and Coags > Flashcards

Anaemia and Coags Flashcards

1
Q

Iron Deficiency Anaemia - What investigations/cut offs?

A 
Age/race specific
But - <11g/dL
Ferritin <20 without infection
Microcytic <70 (late)
Transferrin saturation <16%

Film 
Microcytic cells (Smaller than a lymphocytes’ nucleus)
Variation in size
Hypochromic
Elliptocytic “Cigar-forms”
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2
Q

Thalassemia - how does it effect the red cell indicies and iron studies?

A

Hb low
MCV low
RDW normal or minimally increased
RBC normal - increased

ALL IRON STUDIES - NORMAL

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3
Q

Haemophillia - Which is more common? Which factor is deficient?

A

Haemophillia A - Which is Factor 8 (VIII) disease - 1:5000 “Blood love BOYS coming through the gate on the bachelorette - More goblins!”
Haemophillia B - Which is Factor 9 (IX) Disease - 1:30000

X Linked

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4
Q

Haemophillia -
Historical Complications?
Modern Complications?

A

Joint destruction due to synovial hypertrophy in response to bleeds, erosion of surface - bleeding into large muscles including psoas with neurological plexus in pelvis involvement

Now - Quality of Life - ?Happy and active
Central venous complicatsion
Activity levels - bone health, obesity (hard access, more Rx, worse joints)

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5
Q

What are haemophillia inhibitors?

A

Antibodies against Factor 8 (Haemophillia A) - present in 30% and Factor 9 (Haemophillia B) - present in 5%

Common Haemophillia has more frequent antibodies
Rarer Haemophillia has less frequent inhibitors

Bypass by using NovoSeven or similar

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6
Q

Basis of increasing incidence of X-linked?

A

Mutation occurs in “Grandfather’s” sperm, older dads
Mum is carrier but silent
Grandson is first affected

Increasing because age of fathers increasing, intergenerational lag time

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7
Q

Haemophillia - Major concern before age 1?

A

Child not yet crawling so unlikely to need prophylaxsis until phenotype declares itself

Therefore psychological impact- enmeshment of mothers in sons due to carrier status/guilt

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8
Q

Factor 8/9 Halflives?

A

Normal - 8 hours, therefore 3x weekly IV injection

Extended half life - 14-16 hours, 2x weekly IV and higher basline levels

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9
Q

Approach to neutropaenia?

A

Congenital - AKA needing bone marrow transplant - Earlier presentation, < 6 months and <0.5 neutropaenias, do Next Gen Sequencing to identify gene and prognosticate

Vs “acquired”
More likely to grow out of, Age >1, neutrophils 1.0-1.5

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10
Q

VWD Types?

A

Von Willebrands
Big protein, protects factor VIII from proteloysis and brings platelets and clotting factors close
1:100

Type 1 AD- Most common 80% - Quantitative defect, not enough VWF

Type 2 AD- Doesn’t work “Qualitative”

Type 3 AR - Severe type 1, severe quantitative - Also a factor VIII deficiecny /Haemophilli like phenotype

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11
Q

VWD Treatments?

A

Type 1 - Quantitative - So release stores with desmopressin prior to surgery to get above 40%, or use tranexamic acid

Type 2 - Doesn’t work, need BIOSTATE - Pooled donor VWF/Factor VIII

Type 3 - No endothelial stores to release with desmo

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12
Q

What sort of components are in the FBE tube?

A

EDTA - Dry precipitate
Therefore gots to rotate around to collect it
Irreversible stops coagulation cascade
If small sample and wait too many hours then will change morphology for film

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13
Q

What sort of components in a coags tube?

A

Sodium citrate - reversibly BINDS calcium to pause coagulation

  • Is a ratio of plasma to citrate 1:0.9
  • Adjusted tube for profound polycythaemia or anaemia if Hct <0.3 or >0.7
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14
Q

Things to consider if rapid change in MCV or MCH?

A

Wrong blood in tube - these parameters often conserved over time, narrow range for given patient

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15
Q

Time of nadir for neonates re: Hb?

A

8-10 weeks, to around 100g/L

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16
Q

Advanced blood moves - Low RCC despite N Hb?

A

Intravascular haemolysis, (IgMs, DIC, MAHA) “Normal” Hb is from lysed cells, ‘free Hb’ and not available for oxygen transfer

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17
Q

Advanced blood moves - High platelets with microcytic anaemia?

A

Cut of for platelets is <20fL, with small red cells the tail of the red cell histogram overlaps and spurious counting form machine

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18
Q

How does the automated differentiator work for WCC?

A

Lyse all the red cell then single colume across dual analyser
Sorts by size and nuclear complexity to distribute NRBC vs, eosino, baso, neutro etc.
Shit if L shift, or if low WCC i.e. febrile neutropaenics

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19
Q

Morphology of Red Cells

- Microcytic?

A

Fe def

Thal trait

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20
Q

Morphology of RCC - Spherocytes

A

HS
IgG Autoimmune WARM haemolyiss
ABO incompatibility

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21
Q

Morphology of RCC -Agglutination

A

COLD IgM Autoimmune anaemia

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22
Q

Morpholgy of RCC - Blister and BITES

A

Oxidative stress with G6PD

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23
Q

Oxygen Delivery Equation?

  • What are the physiological changes
  • What is the CLINICAL relevance?
A

Hb x CO x SpO2 x 1.34
g/L x L/min x % x mL/G
= ml/min

  • Chronic - Increase SV by VO2 maxing all the time,
  • Chronic low SpO2 - Increase Hb to 180-200 polycythaemia
  • Acute Hb or SpO2 - Increase HR
  • If INADEQUATE TISSUE OXYGENATION then VENTILATE, IONOTROPE, TRANSFUSE - no number trigger
  • Transfusion Trigger? - Inadequate tissue oxygenation, as evidenced by SYMPTOMS
  • Can non-invasively monitor by setting (baseline HR x 1.25) = Medical review
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24
Q

Regarding CLOTTING and BLEEDING - Virchow’s Triad suggests:

A

Interplay of Vessel Wall (i.e. holes in it, or angry w. DIC), Blood composition and blood flow determine
Same patient can bleed and clot at once due to vessel hole somewhere and an intravascular device somewhere

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25
Pathology tests measure invitro vs. physiology - whats it mean?
Path tests standardised against CLINICAL outcomes They don’t measure physiology at all but DO correlate CLINICALLY, so the correct test is validated to provide the best RISK/BENEFIT for a given therapy
26
WARFarin | -The WARF is for?
Wisconsin Agricultural Research Facility
27
Isolated APTT with Normal PT and normal FIBRINOGEN - Possibilities? - Next step
Factor Deficiency 0- XII, XI, IX, IIX or VWF - Assess with 1:1 mixing, assume 0% and 100% - >50% any factor will normalise test // Heparinised sample // Antibody/Blocker - will not correct with mixing In adults “Lupus” anticoagulant first described but actually confers clotting risk In kids transient post viral antibody with NO CLINICAL RELEVANCE nearly always
28
Isolated PT prolonged with N Fibrinogen and N APTT
Factor VII Deficiency Or Warfarinised
29
Relevance of Low FIBRINOGEN to clotting studies?
Clotting studies measeure FIBRIN formation which requires FIBRINOGEN, therefore will be prolonged Also, Treat with CRYOPRECIPITATE rather than FFP to replace Fibrinogen
30
Which Factor deficiency in a Day 5-13 umbilical stump bleed with NORMAL clotting
80% present like this! Factor XIII, which is downstream of FIBRIN (Cause -> FIBRIN CLOT CROSS LINK) Invitro studies measure only until FIBRIN formed AR genetics Rx with Fibrogammin UREA SOLUBILITY TEST
31
Vitamin K Deficient Bleeding - History?
Original study in 30’s - 6% mortality -> 0.25% mortality across two epochs Now in developing more like 1:10,000 BUT, still >1 a year in Victoria - 50% of kids will have sentinel bleed prior to catastrophic intracerebellar haemorrage SOME TIME before 9 months Early < 48/24 - Mums on antimetabolite or antiepileptic Classiv 48/24-1/52 Late 1/52-9/12 (THESE ARE THE CATASTROPHIC ONES) Bruising before 9/12 - Do Coags, Treat immediately
32
Cold vs. Warm immune mediated haemolysis
``` Warm CMV/EBV DCT +ve IgG (sometimes complement) Spherocytosis Polychromasia - refective of reticulocytes ``` ``` Cold DCT +ve IgM, + Complement (C3 Coating) Agglutination Spurious MACROCYTOSIS ``` Mycoplasma EBV Late stage syphillis - paroxysmal cold haem COLD may be invivo and invitro - warm sample and remake film to fix agglutination, cold patient may trigger haemolysis OR can just be a laboratory nuisance if no evidence of haemolysis Blood bank - Difficult to ensure donor units are compatible (allo and auto) in setting of AIHA // Minimise transfusion ``` // Steroids - more for IgG Immunosuppresion/ IVIG Splenectomy Rituximab anti CD20 ``` // If cold mediated - warm the patient, supportive therapy, rarely need PEX/Steroids
33
Pyropolikosis?
Herediatry membrane defect Bizarre e red cell forms Homozygous or compound hetero for Heridatry Elliptocystosis
34
Hereditary Spherocytosis - Which proteins - Which tests - Which Treatment
``` Many genes possible - 5 x cytoskeleton/red cell membrane attachment Spectrin Ankyrin Band 3 Protien 4.2 75% AD 25% AR/Spontaneous ``` Do E5M - highly sensitive, shows decreased binding to a monoclonal antibody on flow cytometry No longer do fragility test No need to do genetics Treat with folate to improved Hb Blood transfusion PRN (Like if aplastic with parvo or due to increased haemolysis) Consider splenectomy if huge/growth impairment Will need cholecystectomy at some stage ``` // Splenomegaly Low Hb, raised Retics Spherocytes + Polychromasia DAT -ve Rasied bili and LDH ```
35
Herediatry elliptocytosis/pyropoikiliocytosis/SE Asian Ovalocytosis
Alpha Spectrin Beta Spectrin Protein 4.1 AD HPP is AR (i.e. homozygotes) Mostly asymptomatic Incidiental blood film finding
36
Red Cell lifespan?
120 days in normal cells
37
G6PD?
Common Hemizygous Males - i.e. Xlinked Can affect hetro females with lyonisation or homo females 10x point mutations common Haemolysis with trigger Due to G6PD preventing oxidative damage in red cells Triggers include sulfur containing antibiotics
38
Pyruvate Kinase Deficiency
Lack of PK 2nd most common RCC enzyme deficiency Affects glycolysis - energy production in Red Cell - haemolysis Acanthocyte/spiky cells Don’t see spherocytes or oxidative changes Supportive treatment - Folic acid - +/- chronic transfusion
39
Transient Erythroblastopenia?
Subacute red cell aplasia Anaemia without reticulocytes until recovery Sometimes needs a PRBC x 1 DDx Diamond-Blackfan
40
Diamond Blackfan Anaemia
Genetic anaemia presenting in INFANCY <12/12 Red cell aplasia Normocytic, low reticulocyters Myeloid/megakaryocytes Absent erythropoiesis in marrow Sometimes associated congenital anomalies musculoskeletal, cardiac, renal Genetic cancer predisposition - leukaemia/solid tumours // Transfusion dependent for first year Then trial of corticosteroids - can taper to low to transfusion independent If failure can consider transfusion + chelation DDx Aplastic Anaemia, MDS, AML
41
Ribosomopathy?
AD, 50% | Haploinsufficiency of ribosomal protein
42
Bonemarrow failure syndromes?
Fanconi anaemia - chromosomal breakage Scwachman Diamond - Pancreatic insufficiency/diarrhoea -> growth failure MDS/Bonemarrow Pearsons - Mitochondrial - Vacculotatioin of red cell on bone marrow Dyskeratosis congenita Telomere shortening Other cell lines fail as well as RCC // HbF often elevated Red cell ADA increased
43
What is Hepcidin?
In an ineffective erythropoeisis state like Thalassemia - Hepcidin is low - this causes increased gut uptake of iron which is the opposite of what Thalassemia’s need because they become iron overloaded 2o to transfusions and need chelators Analogs may limit this
44
HbF - High or Low affinity Hb?
High affinity, strongly binds O2, releases it less well This means it is LEFT SHIFTED - i.e. won’t desaturate until the PaO2 is super low Hb F is alpha2-gamma2
45
Alpha Thal - Which Genes?
Chromosome 16 2 x Allelles/chromosome so 4 copies/person ``` aa-aa. = Normal -a/aa = Silent carrier —/aa or a-/a- = Trait —/-a = HbH disease —/— = Hydrops fetalis/Hb Barts ```
46
HbH Disease?
Alpha Thal 3 gene deletion HbH (Beta x 4 tetramer) Doesn’t give up O2 so deduct HbH % from functional Hb Mostly non-transfusion dependent But transfuse for poor growth/pregnancy/stress/infection Or Bony changes/school performance/pubertal delay/poor QOL
47
Hb Barts?
Hb Bartholomew 4 x gamma tetramer Hb present in hydrops fetalis wtih a 4 gene alpha thal deletion (i.e. HbF but not alpha chains)
48
Beta Thal - Which genes
Chromosome 11 HBB gene 1 x copy/chromosome - 2x copies/person Mostly single nucleotide changes Hb variants including sickle with single change Beta0, beta+ gives rise to intermedia Beat 0, beta = trait Beta 0, beat 0 = beta thal, presents prior to 12/12 - transfusion dependent
49
Measuring Iron overload?
Ferritin over time for one patient No longer liver Bx Ferriscan - MRI 1 hour to replace liver Bx Echo or endocrine Ix - Because Iron overload causes heart disease, growth failure, delayed puberty
50
Iron overload Rx?
Chelators from early - iron overload can present early Monitoring drugs with significant side effects Start if ferritin >1000 Aim ferritin < 500, start after about a year of transfusion Desferrioxamine - DESFERO $20,000 pa Subcut - urinary and faecal excretion SE: Impaired growth, bony change, ocular toxic Deferasirox - JADE NEW - $65,000 pa Oral GI removal of LE SE: HEPATOXIC, tolerate Transaminitis x5, Renal effects, GI intolerance, Poor growth if too much chelator vs. iron ``` Deferiprome - El-1, $25,000 pa Oral - TDS Urinary/Faecal Second line SE: Arthropathy, thrombocytopaenia ``` Previously kids died age 20-30, now age 60-70 now with chelation
51
Sickle Cell? How pathology/where pathology?
Insoluble shapes due to polymerisation of HbS when deoxy —> Sickle Present > 6/12 because then switch to A Hand foot syndrome - INFARCARTION/VASOCCLUSION - chest, bone crisis, splenic infarct with infections, renal insufficiency 25% And HAEMOLYSIS - pulm HTN, ulcers, stroke , Priapism
52
Leading cause of death in Sickle Cell?
Acute Chest Syndrome - Like a pulmonary infarct Can occur with fat embolism post bone crisis 1/52 Rx with Exchange Transfusion
53
Splenic Sequestration in Sickle Cell
Young kids prior to auto-infarction of spleen Big spleen Rx with transfusion until sickle % drops Then auto-transfusion from big spleen and risk of stroke - so transfuse 50-100mL aliquots under haem guidance
54
Can you give tPA in a stroke in sickle patient?
Nope - Mechanism is a group of sickles and tPA will cause bleeding
55
Sickle Cell Rx
Hydroxyurea - Increases Hb - Upregulates HbF (so less sickle) Blood Transfusion Red cell exchange Holistic care - QOL/Family Antibiotics Long term Cx screening - Renal, cardiac, respiratory, neurological
56
Can i aggresively transfuse in Sickle cell?
Nope Chronically 70g/L Maximally increase by 30g/L to limit risk of stroke due to viscosity
57
Red Cell Exchange in Sickle?
Great for treating stroke or risk of stroke Good for recurrent acute chest 6-8 units of blood in 90 minutes Lots of blood required, lots of exposure Can iron deplete as removing excess Hb Remain volume/viscosity iso
58
What is Crizanlizumab?
A P Selectin monoclonal antibody to reduce cell adhesion “Sticky protein” to cause local thrombosis Target for Sickle Cell
59
B-Thal, Sickle Cell - Gene options?
Single nucleotides So CRISP, gene editing, viral vectors are options Gene modified own stem cells implanted “repaired” Also: Partial engraftment of HSCT Doesn’t need as robust destruction cf leukaemia
60
What causes Diamond Blackfan Anaemia?
“Congenital Red cell Aplasia” - a form of Inherited Bone Marrow Failure Syndrome Inherited defect of ribosomal proteins - RPS Gene in 50% Presents age 2-3 months or <1 yr old Congenital anomalies - increased cancer risk Macrocytic with absent red cell precursors Increased RBC adenosine deaminase activity Rx with steroids - 80% responbd Compared to transient erythroblastopaenia of childhood - which presents >1yr of age, has an antecedent viral illness, no associated congenital anomalies and is self-limiting +/- support with PRBC
61
Fanconi Anaemia?
Inherited bone marrow failure syndrome CHROMOSOMAL FRAGILITY TEST Median age of pres 7, 90% by 40 yrs Macrocytosis or thrombocytopaenia 70% cutaneous/skeletal abnormality incl. short stature Increased cancer ++ , 1/3 leukaemia, 1/4 solid tumour
62
Dyskeratosis Congenita?
An inherited bone marrow failure syndrome - Gene w. Telomeres = TERT, TERC - Gene DKC = Dyskerin - ribosomal + telomeres Dx - Dystrophic nails/oral leucoplakia/reticular pigmentaition = ectodermal dyspalsia Ax pulmonary/liver fibrosis SCRT for marrwo failure Cancers ++ 0 oral/naso pharyngeal/vulval Severe forms -= Hoyeraal Hreidarsson or Revesz
63
Evan’s Syndrome?
Autoimmune Haemolytic Anaemia AND Immune Thrombocytopaenia
64
HbF - When does it become dominant Hb? | What % at birth?
Dominant from 10/40 gestation 60-90% at birth Normal adult % by 6 months
65
Oral Ulcers - Haemotological manifestation of:
Neutropaenia Coeliac IBd - Chron’s B12/Folate/Iron
66
Shwachman-Diamond Syndrome? SDS Presents Gene
Exocrine pancreatic insufficency (2nd most common after CF) Bone marrow dysfunction -Esp,. Neutropaenia, but single or pancytopaenias -> may lead to marrow aplasia or AML Skeletal abnormalities Short stature AR 1:75,000 SBDS Gene - Gene conversion (recombination with defective pseudogene) Probably ribosome related
67
Genetics of Congenital Neutropenia
Neutrophil elastase ELANE Kostman’s Snydrome HAX1 - Neurological abnormalites - High dose G-CSF
68
Neonatal Purpura Fulminans?
Neonatal thormobphillia - Protein C and Protein S deficiency - These are necessary ANTICOAGULANTS - Clinically Purpura Necrosis Laborartory - DIC
69
What is in Cryoprecipitate?
Factor VIII VWF Fibrinogen
70
What is in Prothrombinex?
Concentrate with: Factor II Factor IX Factor X

RACP Study - Haematology (1 decks)

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