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0
Q

Contents of cryoprecipitate

A 
Factor 8
Factor 13
Fibrinogen
Fibronectin
Von wilebrand factor
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1
Q

Haemochromatosis mutations

A

H63D
C282Y

Both mutations in the HFE gene (human haemochromatosis gene), gene product is HH protein which regulates hepcidin production.

Homozygous c282y most common clinical haemochromatosis
Heterozygous compound c282y/h63d mild, homozygous H63D
Heterosexual h63d rarely clinically seen

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2
Q

Most sensitive test for diagnosing haemochromatosis

A

Transferrin saturation- more than 50% in women and 60% in men

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3
Q

How do you tell the difference between haemophilia a and b on lab testing

A

You cannot- lab wise indistinguishable
Clinically haemophilia B (factor 9 def) can present in adulthood, not really for haem A. Mixing study will correct prolonged ATPP in congenital but only partially in acquired factor 8 deficiency

Factor 5 def get long PT and APTT

Factor twelve def gives long APTT but normal PT as well but no actual bleeding manifestations

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4
Q

Causes of isolated long APTT

A

Low 8,9,12, 11

Acquired clotting factor inhibitors against factor 8

Lupus anticoagulant

Plus minus also prolonged PT- UFH, anti phospholipid Ab

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5
Q

Inherited thrombophilias

A

More potent: protein c, protein s, anti thrombin deficiencies

Less potent more common: prothrombin G20210A gene mutation, factor v Leiden

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6
Q

Percentage of JAK 2 in PRV, IMF, ET

A

95% for PRV

50-60% for others

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7
Q

Name of effect where taking spleen out attenuated the disease process

A

Abscopal effect

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8
Q

Hyper viscosity clinical triad

A

Visual changes, mucosal bleeding, mental state changes

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9
Q

To diagnose waldenstroms macroglobulinaemia need 2 things…

A

Greater than ten percent lymphoplasmocytic bone marrow cellularity and IgM M protein

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10
Q

What is the use of serum transferrin receptor

A

Derived from BM erythroid precursors, hence increase with increasing erythropoesis. Inversely proportional to iron levels eg low iron gives high level

Not as specific as low ferritin

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11
Q

What is free transferrin receptor/log ferritin ratio use?

A

Better than serum free transferrin receptor at differentiating ACD from iron def anaemia.

Less than one - ACD
more than two - iron def
More than 2 could also mean both

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12
Q

Causes of B12 def

A

Pernicious anaemia, bariatric surgery, gastritis, autoimmune metaplastic strophic gastritis

Malabsorption syndrome, Crohn’s disease, blind intestinal loops, ileal resection or bypass, fish tapeworm infection

Pancreatic insuff

Strict vegan or pregnant plus veg

Agents that block absorption - biguanides, h2 receptor antag, ppis, N2o anaesthesia, neomycin

Inherited transcobalmin II def

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13
Q

Role of methylmalonic acid and homocysteine levels in suspected B12 and folate def

A

Folate def–> sensitive high levels homocysteine
B12 def–> sensitive high levels both MMA and homocysteine

These are metabolites waiting around to be processed but no B12 or folate to help

Useful when borderline levels of tests

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14
Q

Ab testing in pernicious ansemia

A

Intrinsic factor Ab not sensitive (50-70%) but specificity approaching 100%

Anti parietal cell ab more sensitive but less specific

Increase in serum gastrin, decreased pepsinogen 1 and decreased pepsinogen 1:2 highly sensitive but not specific

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15
Q

Cold agglutinin causes

A 
Cold IgM ab AIHA
lymphoproliferative disorders
Mycoplasma
Mononucleosis EBV HIV 
Drugs
Idiopathic
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16
Q

Immune DAT + causes

A 
Post transfusion
Drugs
SLE
CLL
idiopathic
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17
Q

Lenalidomide associated Thrombosis

A

Increased risk arterial and venous thrombosis in patients on lenalidomide- increased risk if newly diagnosed, high dose Dex, hyperviscosity, recent surgery, cvc, anthracyclines

18
Q

Causes of pancytopaenia

A 
Central (BM failure):
drugs
B12/folate
Aplastic anaemia
MDS
haem malignancy
myelofibrosis
non haem infiltration- solid tumour or storage disorder
haemophagocytic syndrome

Peripheral:
hypersplenism
sepsis
dilutional in pregnancy

19
Q

What congenital malformations are seen in Fanconi anaemia 60-70% of the time?

A 
Cafe-au-lait spots and hypopigmentation
abnormal thumbs
short stature
microcephaly
short stature
hypogonadism and delayed development
20
Q

What is WHIM? (AKA Lazy leukocyte syndrome)

A

warts, hypogammaglobulinaemia, infections, myelokathexis (cells cannot migrate out of bone marrow)

CXCR4 mutation
hypercellular bone marrow- cells cannot migrate
rarely fatal

21
Q

Cyclic neutropaenia- what does it look like and what is the clinical significance?

A

cyclic neutropaenia 3 weekly
autosomal dominant
ELANE mutation (neutrophil elastase)
usually mild but can be severe and cause death
give regular G-CSF to reduce nadir and infection

22
Q

Chediak -Higashi syndrome- what does it look like and what are the causes? Cause of neutropaenia

A

Occulocutaneous albinism
Severe neutropaenia and life threatening pyogenic infections where most die by 7 years
Mild coagulopathy
Progressive neurological deterioration with peripheral neuropathy if do not die of infection
Accelerated phase- lymphohistiocytosis usually fatal
Autosomal recessive
see giant GRANULES in leuks and plateelts
Disorder of lysosome trafficking regulatory proteins
HSCT best treatment but only a cure for haem not neuro degeneration

23
Q

Discuss picture and cause of Schwannmann diamond blackfan syndrome (cause of neutopaenia)

A 
Present in infancy with severe persistent or intermittent neutropaenia
Get infections
May have other cell lines affected /AA
Pancreatic insufficiency in most
Bony abnormalities, short stature
Dental defects
INCREASED RISK AML
Aut recessive
HSCT
result of ribosomal dysgenesis
24
Felty's syndrome- what is it?
An acquired cause of neutropaenia Mild-moderate, chronic neutropaenia Triad of seropositive RA, splenomegaly, neutropaenia 1% all RA patients Probably autoimmune Often also have LGL syndrome- large granular lymphocyte syndrome (neutropaenia with increase in circulating NK cells, often total lymphocytes normal, not malignant)
25
What is chronic idiopathic neutropaenia/benign chronic neutropaenia
neutrophil equivalent of ITP! may see with SLE or other autoimmune Ab testing positive in only 30-40% mostly mild , never need tx
26
What are the causes of transient acquired neutopaenia? (7)
1. Drug idiosyncratic neutropaenia 2. Virus- usually in prodrome, rarely important, may be longer in hep B, HIV 3. Sepsis- bad prognostic indicator 4. Neonatal isoimmune- Ab from mother 5. Nutritional- B 12, folate, COPPER deficient (eg short gut, TPN, malabs) 6. Hypersplenism - mild usually 7. Haemodialysis- severe neutropaenia on blood taken during dialysis- C' activation on dialysis membrane causes neuts to latch onto lung endothelium. An artifact only
27
Drug idiosyncratic neutropaenia (8)
``` NSAIDS Carbimazole, propylthiouracil Antiepileptics Sulfonamides Dapsone Rituximab CAPTOPRIL!! ```
28
sulfonamides? list
sulfamethoxazole, sulfonylureas, sotalol, cox2 inhibitirs, diuretics, protease inhibitors
29
How bad does neutropaenia have to be to confer a septic risk?
Low risk until around 0.5 then rises sharply Risk greater if falling counts, empty bone marrow, prolonged length neutropaenia If abscess formation- implies good reserve of functioning neuts If gingivitis, mucositis, raised CRP, febrile, suggests poor reserve and high septic risk
30
What is better for immunosupression in aplastic anaemia? Horse or rabit ATG?
Horse significantly better.
31
Drug causes of Aplastic anaemia?
``` Chloramphenicol Gold (especially doses over 200mg) NSAIDS sulfonamides antiepileptics arsenics ``` and then obviously- chemotherapy, adverse interaction eg aza+ allopurinol, methotrexate in renal impairment
32
Other causes of acquired aplastic anaemia (other than drugs)
``` 80% idiopathic Irradiation Viral (parvoB19 though usually PRCA), hep, HIV, EBV Chemical- benzene (rubber), glue vapours Immune- eosinophilic fasciitis, SLE, GVHD PNH (1/3 get it) Pregnancy- usually resolve with delivery Thymoma/thymic Ca ```
33
What is dyskeratosis congenita? Cause of marrow failure
Marrow failure with increased risk malignancy Somatic abnormalities not seen at birth but develop with time- nail dystophy(nails disappear with time) + leukoplakia + upper trunk hyperpigmentation Also premature greying, pulmonary fibrosis, cirrhosis, short stature Related to shortening telomere length BM failure in three quarters, median age 10 malignancy age 30+ esp SCC and AML Allogeneic BMT only cure but will not cure somatic complaints
34
Fanconi anaemia as a cause of bone marrow failure- what does it look like?
Most diagnosed as kids but may be missed until even early 20s AR or X linked Congenital malformations in 60-70% - cafe-au-lait, hypopigmentation, abnormal thumbs, short stature, microcephaly, delayed development, hypogonadism Defects related to DNA repair and stabilisation BM - shows hypocellular and dysplastic cells Specific test is for chromosomal fragility in lymphocytes when exposed to mitomycin C or DEB Siblings should all be tested even if physically nothing wrong with them By age 40 complete BM failure in 90% one third leukaemia or MDS a third solid CA- head neck skin vulva 80% mortality age 40
35
Side effects of Hodgkin Lymphoma treatment Adriamycin--> Bleomycin--> Radiation-->
Cardiac Respiratory Breast
36
When can you NOT rely on HbA1c
``` iron def anaemia Haemolysis Haemoglobinaemia Kids Gestational diabetes HIV CKD ```
37
What are the 4 sickle cell crises?
1 Thrombotic- painful/vaso-occlusive. Precipitated by infection, dehydration, deoxygenation. eg hip AVN, hand foot syndrome in kids 2 Sequestration (sickling and sequestration within organs like spleen or lungs-->worse anaemia). Example is the acute chest syndrome- dyspnoea, pain, pulm infiltrates, low sats, DEATH 3 Aplastic parvovirus-->sudden drop Hb 4 Haemolytic- rare. worse anaemia from extra haemolysis
38
What gives you a falsely reassuring G6PD assay?
reticulocytes! They have higher levels
39
What does G6PD do?
Two things- makes NADPH to protect against oxidative stress oxidises glucose 6 phosphate
40
What is TPO and how do romiplostim and eltrombopag work?
Romiplostim TPO receptor agonist Eltrombopag TPO mimetic thrombopoetin
41
In beta thal, does iron chelation provide symptomatic benefit?
Yes, desferrioxamine does provide MORTALITY benefit, but local reaction, deafness, retinal toxicity, infection, growth retardation
42
Hyposplenic blood picture
Howell Jolly bodies Target cells nucleated red cell acanthocyte

Haematology (19 decks)

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