Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

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”
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Time of nadir for neonates re: Hb?

A

8-10 weeks, to around 100g/L

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Morphology of Red Cells

- Microcytic?

A

Fe def

Thal trait

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Morphology of RCC - Spherocytes

A

HS
IgG Autoimmune WARM haemolyiss
ABO incompatibility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Morphology of RCC -Agglutination

A

COLD IgM Autoimmune anaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Morpholgy of RCC - Blister and BITES

A

Oxidative stress with G6PD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Pathology tests measure invitro vs. physiology - whats it mean?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

WARFarin

-The WARF is for?

A

Wisconsin Agricultural Research Facility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Isolated APTT with Normal PT and normal FIBRINOGEN

  • Possibilities?
  • Next step
A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Isolated PT prolonged with N Fibrinogen and N APTT

A

Factor VII Deficiency

Or

Warfarinised

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Relevance of Low FIBRINOGEN to clotting studies?

A

Clotting studies measeure FIBRIN formation which requires FIBRINOGEN, therefore will be prolonged

Also, Treat with CRYOPRECIPITATE rather than FFP to replace Fibrinogen

30
Q

Which Factor deficiency in a Day 5-13 umbilical stump bleed with NORMAL clotting

A

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
Q

Vitamin K Deficient Bleeding - History?

A

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
Q

Cold vs. Warm immune mediated haemolysis

A 
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
Q

Pyropolikosis?

A

Herediatry membrane defect
Bizarre e red cell forms

Homozygous or compound hetero for Heridatry Elliptocystosis

34
Q

Hereditary Spherocytosis

  • Which proteins
  • Which tests
  • Which Treatment
A 
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
Q

Herediatry elliptocytosis/pyropoikiliocytosis/SE Asian Ovalocytosis

A

Alpha Spectrin
Beta Spectrin
Protein 4.1

AD
HPP is AR (i.e. homozygotes)

Mostly asymptomatic
Incidiental blood film finding

36
Q

Red Cell lifespan?

A

120 days in normal cells

37
Q

G6PD?

A

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
Q

Pyruvate Kinase Deficiency

A

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
Q

Transient Erythroblastopenia?

A

Subacute red cell aplasia
Anaemia without reticulocytes until recovery
Sometimes needs a PRBC x 1

DDx Diamond-Blackfan

40
Q

Diamond Blackfan Anaemia

A

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
Q

Ribosomopathy?

A

AD, 50%

Haploinsufficiency of ribosomal protein

42
Q

Bonemarrow failure syndromes?

A

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
Q

What is Hepcidin?

A

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
Q

HbF - High or Low affinity Hb?

A

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
Q

Alpha Thal - Which Genes?

A

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
Q

HbH Disease?

A

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
Q

Hb Barts?

A

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
Q

Beta Thal - Which genes

A

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
Q

Measuring Iron overload?

A

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
Q

Iron overload Rx?

A

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
Q

Sickle Cell?

How pathology/where pathology?

A

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
Q

Leading cause of death in Sickle Cell?

A

Acute Chest Syndrome
- Like a pulmonary infarct

Can occur with fat embolism post bone crisis 1/52

Rx with Exchange Transfusion

53
Q

Splenic Sequestration in Sickle Cell

A

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
Q

Can you give tPA in a stroke in sickle patient?

A

Nope - Mechanism is a group of sickles and tPA will cause bleeding

55
Q

Sickle Cell Rx

A

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
Q

Can i aggresively transfuse in Sickle cell?

A

Nope
Chronically 70g/L
Maximally increase by 30g/L to limit risk of stroke due to viscosity

57
Q

Red Cell Exchange in Sickle?

A

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
Q

What is Crizanlizumab?

A

A P Selectin monoclonal antibody to reduce cell adhesion

“Sticky protein” to cause local thrombosis

Target for Sickle Cell

59
Q

B-Thal, Sickle Cell - Gene options?

A

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
Q

What causes Diamond Blackfan Anaemia?

A

“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
Q

Fanconi Anaemia?

A

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
Q

Dyskeratosis Congenita?

A

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
Q

Evan’s Syndrome?

A

Autoimmune Haemolytic Anaemia AND Immune Thrombocytopaenia

64
Q

HbF - When does it become dominant Hb?

What % at birth?

A

Dominant from 10/40 gestation
60-90% at birth
Normal adult % by 6 months

65
Q

Oral Ulcers - Haemotological manifestation of:

A

Neutropaenia

Coeliac

IBd - Chron’s

B12/Folate/Iron

66
Q

Shwachman-Diamond Syndrome? SDS

Presents
Gene

A

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
Q

Genetics of Congenital Neutropenia

A

Neutrophil elastase ELANE
Kostman’s Snydrome HAX1 - Neurological abnormalites

  • High dose G-CSF
68
Q

Neonatal Purpura Fulminans?

A

Neonatal thormobphillia

  • Protein C and Protein S deficiency
  • These are necessary ANTICOAGULANTS
  • Clinically
    Purpura
    Necrosis

Laborartory
- DIC

69
Q

What is in Cryoprecipitate?

A

Factor VIII
VWF
Fibrinogen

70
Q

What is in Prothrombinex?

A

Concentrate with:
Factor II
Factor IX
Factor X

RACP Study - Haematology (1 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions