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THIRD YEAR > Haem 2 > Flashcards

Haem 2 Flashcards

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1
Q

haemaglobinopathies are generally what

A

autosomal recessive

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2
Q

commonest monogenic disorders

A

thallasaemias

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3
Q

increase in thallasaemia where

A

malaria endemic areas

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4
Q

where are people with thallasaemia from

A

SEA
ME
medditirean

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5
Q

alpha thal trait

what it be mistaken for

A

1 or 2 missing

iron defic but ferritin normal and RBC count is high

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6
Q

HbH disease
alpha chain production
what kind of anaemia

A

only 1 alpha chain left
<30% or normal
anaemia with low MCV and MCH

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7
Q

what are HbH bodies

A

excess beta chains that form tetramers that can’t carry oxygen
red cell inclusions (HbH bodies) can be seen with some stains

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8
Q

Hb barts hydrops fetalis is what

what forms are seen at birth

A 
minimal or no alpha chain production. HbA can't be made
Hb barts (gamma4) and hbh at birth
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9
Q

what with hydrops fetalis is seen in peripheral blood

what happens to most babies with this

A

nucleated RBC

most die in utero

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10
Q

in beta thallasamei what kind of hb is affected

A

only HbA

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11
Q

genetic for beta thallasaemias

A

point mutations

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12
Q

beta thallasmaie trait is what

what kind of anaemia

A

reduced amount in one or none in one

mild or no anaemia

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13
Q

beta thal intermediate

symp and rx

A

both low or ones got none and the other low

mod severity requiring occasional transfusion

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14
Q

beta thal major

treatment

A

none in both

life logn transfusion

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15
Q

blood film of beta thal major

A

macrocytosis
hypochromia
anispokilocytosis and target cells

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16
Q

HPLC of beta thal major

A

mainly HbF present

small amounts of HbA

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17
Q

treatment for beta thal major

A

regular transfusion to maintain hb 95-150

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18
Q

transfusion cx

A 
iron over load
hepB/C
alloautoantibodies
TRs
bacterial sepsis
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19
Q

how much iron in a unit of red cells

A

200-250mg

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20
Q

iron overload leads to what endocrine
cardiac
liver

A

endo - impaired growth, DM, osteoporosis
cardiac - cardiomyopathy, arrhythmias
liver - cirrhosis, hepatocellular cancer

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21
Q

what can be given to treat iron overload

A

desferrioxamine - chelatops bind to iron and secreted in urine/stool

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22
Q

increase in HbA2 seen on HPLC

A

beta that trait

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23
Q

can HPLC diagnose alpha thal trait

A

no normal in it

need DNA testing to confirm

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24
Q

sickle cell genetics

A

point mutation on chromosome 6 of the beta globin gene that substitutes glutamine to valine production Bs

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25
HBS polymerase
changes shape if exposed to low levels of oxygen fro a prolonged period of time
26
sickle trait | HbS
one normal one betas | HbS<50%
27
what can happen in sickle trait
can sickle in severe hypoxia - high amplitude, under anaesthesia
28
sickle cell anaemia genetic HbS HbA episodes of what
autosomal recessive HbS>80% no HbA episodes of tissue infarction due to vascular occlusion
29
effects of sickle cell anaemia chronic haemolysis hyposplenism sickle cell crisis
shortened RBC life spac due to repeated splenic infarcts hypoxia, dehydration, infection, cold exposure, stress/fatigue
30
treatment of sickle cell crisis
opiate analgesia, hydration, rest, oxygen, ABs, transfusion
31
life long treatment | hyposplenism and others
prophylactic penicillin. pneumococcal, meningococcal and haemophilus influenza vaccines yearly folic acid supplementation hydroxycarbamide - induce HbF production
32
HbS/beta thal
mild if b+ severe if b0
33
HbSC dx
milder but increased risk of thrombosis | lysine replaces glutamic acid in position 6
34
activation of complement cascade in haemolytic TR
c3a and c5a powerful anaphylaxotoxins, increase vascular permeability, dilate blood vessels, release serotonin and histamine formation of MAC - rupture of transfused RBCs
35
activation of coagulation in haemolytic TR
DIC
36
activation of kinin system in haemolytic TR
activated by factor 7, formation of bradykinin: arteriolar dilatation vascular permeability - hypotension - release of catecholamines - vasoconstriction in kidneys and in other organs
37
delayed TR when
5-10 d after
38
what can be found in a delayed HTR
spherocytic red cells on film increase in bilirubin and LDH positive DAGT and/- RC alloautoantibodies may be degree of renal failure present
39
what kind of transfusions for febrile TRs happen in
2% of RC 20% of platelet
40
symp of febrile TR
1-2 degrees rapid rise
41
preventionof febrile TR
prevention - antipyretics, leucodepleted blood components
42
whats found in febrile TR
ABs to contaminating white blood cells - release of cytokine and vasoactive substances from white cells during storage
43
urticarial reactions why symp rx
mast cells - IgE to infused plasma proteins rash and wheals within mins slow transfusion.
44
circulatory TR who what
elderly px with CCF | pulmonary oedema
45
bacterial infection organisms in RC | platelets
psuodomonas, yersinina | staph, strep, serrritla, salmonella
46
viral infections HIV HBC HCV
1/6mil 1/1.6mil 1/2.6mil
47
transferrin >50%
risk of iron overload
48
dx of iron overload
males ferritin >300 females >200 liver biopsy if uncertain or to assess organ damage
49
treatment of primary haemochromatosis
weekly phlebotomy 450-500ml (200-250mg of iron) | get ferritin to <20 then keep it under 10ug/L
50
treatment for secondary iron overload | why is venesection not an option
not an option in already anaemic px | deferoxamine SC or IV, deferipone PO, deferasirox PO
51
what happens to anaemia in chronic disease
inflam macrophages iron block -> iron supply to marrow erythroblasts impaired -> hypochronic red cells
52
why are red cells more prone to damage
biconcave shape limited metabolic reserve can't generate new proteins - no nucleus
53
consequences of haemolysis
erythroid hyperplasia | excess RC breakdown
54
extravascular haemolysis what happens what grows release of what
taken up by reticuloendothelial system (spleen and liver predom) hepatosplenomegaly release of protoporphyrian: unconjugated bilirubin - jaundice, gall stones, urobiliuria
55
intravascular what happens | ix kind of
RC destroyed within circulation spilling contents haemglobinaemia methalmalbinaemia haemoglobinuria - pink urine turns black on standing haemisderinuria
56
increased hb and increased haemsiderin
intravascular
57
which kind of haemolysis is most common
extrvacular
58
what causes intravascular haemolysis
haemolytic TR GP6D black water fever PNH/PCH
59
film showing spherocytes red cell fragments heinz bodies HbS
membrane damage mechanical damage oxidative stress sickle cell
60
test for auto immune haemolysis
direct coombs test
61
AI haemolsysi types IgG | IgM
idiopathic. commonest. SLE, CLL, penicillins, infections | idiopathic. EBV. mycoplasma. CLL
62
alloimmune haemolyiss immune response passive transfer
AB produced haemolytic disease of the newborn IgG
63
immune transfer is what immediate delayed
haemolytic TR immediate IgM intravascular immediate IgG extravascular
64
mechanical destruction of Rbc causes
``` DIC haemolytic uraemia syndrome EColi 0157 leaving heart valve - MAHA TTP infection - malaria burns - microspeheres ```
65
abnormal cell membrane liver
liver disease - zieves syndrome | haemolysis, alcoholic liver disease, hyerlipidaemia
66
other causes of abnormal cell membrane
vit E defic, paroxysmal nocturnal haemaglobinemia | hereditary pherocytosis
67
paroxysmal nocturnal haemaglobinemia
hams test | urine dark only at night and morning
68
abnormal cell metabolism
GP6D defic - genetic | dapsone - haemolytic anaemia
69
myeloma direct tumour effects
bone lesions, increased calcium, bone pain, marrow failure
70
myeloma paraprotein mediated effects
renal failure, immune depression, hyperviscosity, amyloid
71
malignant melanoma cell shift balance of bone production
increase in osteoclasts | decrease in osteoblasts
72
treatment of myeloma
corticosteroids, alkylating agent - cyclophosphamide, thalidomide, lenlamide
73
what can be used to monitor myeloma
paraprotein
74
monoclonal gamapathy of uncertain significance
paraprotein <30 monoclonal protein in blood bona marrow plasma cells <10% no evidence of myeloma and organ damage
75
AL amyloidosis is what where is mutation poor prognosis if symp
small cells plasma clone mutation in light chain poor prognosis esp if cardiac failure kidneys: nephrotic syndrome, neuropathy, GI - malabsorption, heart - cardiomyopathy, liver disease
76
AL amyliodosis ix
congo red stain green birefringence rectal or fat biopsy
77
walderstroms macroglobinaemia what Ig
IgM - pentameric
78
lymphaplasmacytoid neoplasm is what
clonal disease of cells intermediate between lymphocytes and plasma cells
79
tumour effects of walderstroms
lymphadenopathy splenomegaly marrow failure
80
paraprotein effects of walderstorms
hyper viscosity - fatigue, visual disturbances, confusion, bleeding CF neuropathy night sweats, weight loss
81
treatment for walderstorms
chemo | plasmapheresis

THIRD YEAR (27 decks)

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