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Phase 3a Finals > Paediatric Haematology > Flashcards

Paediatric Haematology Flashcards

1
Q

What is iron deficiency anaemia?

A

mc anaemia

needed to make hb in rbc so def = reduction in rbc/hb

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2
Q

epidemiology of iron def anaemia

A

pre-school age children

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3
Q

causes of iron def anaemia

A

excessive blood loss: pre-menopause, gi bleed(men colon cancer) post menopause

inadequate diet: eat meat, dark leafy veg.

poor intestine absorption: coeliac

increased iron requirement: periods of rapid growth. pregnancy. increase in plasma vol in pregnancy causing iron def through dilution.

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4
Q

features of iron def anaemia

A

fatigue
sob on exertion
palpitations
pallor
nail changes: koilonychia spoon shaped

hairloss
atrophic glossitis
post-cricoid webs
angular stomatits

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5
Q

ix for iron def anaemia

A

history- look for cause

fbc - hypochromic microcytic anaemia

serum ferritin: low - correlates with iron stores. ferritin can be raised in inflammation.

total iron binding capacity/transferrin - high. - high tibc= low iron stores. transferrin sats will be low.

blood film: anisopoikilocytosis - rbc diff size and shapes, target cells (pencil) poikilocytes

endoscopy: rule out malignancy. - men and post menopause women with unexplained iron def. post men with hb under or 10 or men 11 or less refer within 2 weeks to gi.

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6
Q

how would you manage iron def anaemia?

A

identify cause

oral ferrous sulfate: 3 months to replenish.

iron rich diet: dark leafy veg, meat, iron fortified bread

blood transfusion - rare

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7
Q

common side effects of iron supps

A

nausea
abdo pain
constipation
diarhoea

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8
Q

hb produced where
requires what

A

bm
iron

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9
Q

drugs that can interfere with iron absorption

A

ppi - lansoprazole omeprazole

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10
Q

normal ranges for irons

A

serum ferritin - 12-200 ug/l

serum iron 14-31 umol/L

tibc - 54-75 umol/l

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11
Q

ranges of iron - what 2 things can increase these values

A

iron supps

acute liver damage - iron stored there

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12
Q

types of microcytic anaemia

A

iron def
thalassaemia
congenital sideroblastic anaemia

anaemia of chronic disease- mc normocytic, normochromic picture

lead poisoning

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13
Q

pt with normal hb level with microcytosis.

not at risk of thalasemia, what is it?

A

poss polycythaemia rubra vera which can cause iron def anaemia secondary to bleeding

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14
Q

alpha thalassaemia

tell me about it

depending on amount of alpha globulin alleles affected

mx

A

due to def of alpha chains in hb

2 seperate alpha globulin genes located on each chr 16

severity depending on no. of alpha globulin alleles affected:

if 1/2 - blood picture is hypochromic and microcytic - normal hb level

if 3: hypochromic microcytic anemia with splenomegaly. Hb H disease

if all 4 : homozygote - death in utero (hydrops fetalis, barts hydrops) - alpha major

monitor
blood transfusion
splenectomy
bm transplant - cure

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15
Q

beta thalassemia major - tell me about it

A

absence of beta globulin chains
chr 11 - either abnormal copies that retain some function or deletion with no function in the beta-globin.

1st yr of life with failure to thrive and hepatosplenomegaly

microcytic anaemia

hba2 and hbf raised

hbA absent

mx: repeated transfusion
leads to iron overload = organ failure

iron chelation therapy important: desferrioxamine

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16
Q

beta-thalassaemia trait - tell me about it

A

group of genetic disorders characterised by reduced production rate of either alpha or beta chains.

autosomal recessive

mild hypochrommic microcytic anaemia.

asx

microcytosis - disproportionate to anemia

hbA2 raised over 3.5%

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17
Q

thalassemia are what genetic

A

autosomal recessive both

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18
Q

whats up with the rbc of thalassaemia pts?

A

more fragile break down easily

haemolytic anaemia

spleen acts like a sieve, filters blood and removes older cells.

collected all destoryed rbc = splenomegaly

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19
Q

features of thalassaemia

A

microcytic anaemia - low mean corpuscular volume

fatigue
pallor
jaundice
gallstones
splenomegaly
poor growth and development

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20
Q

ix for thalassaemia

A

microcytic anaemia - low mean cell vol - fbc

raised ferritin = iron overload

hb electrophoresis - diagnose globin abnormalities.
dna testing: genetic abnormality .

do for all pregnant women.

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21
Q

why might iron overload happen in thalassaemia?

A

increased iron absorption in gi tract.

blood transfusion

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22
Q

iron overload in thalassaemia sx and comps of ?

A

liver cirrhoiss
hypogonadism
hypothyroidism
hf
dm
osteoporosis

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23
Q

mx of iron overload

A

serum ferritin- monitor

limit transfusions
iron chelation

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24
Q

3 types of beta thalassaemia

A

minor - trait - carrier - 1 abnormal 1 normal. mild microcytic anaemia - just monitor
intermedia - 2 abnormal copies. 2 defective or 1 defection and 1 deletion. more significant microcytic anaemia. occasional blood transfusion. poss iron chelation prevent iron overload
major - homozygous for deletion. no functioningbeta-globin. more severe. severe anaemia./ failure to thrive in early chilhood.

bm under stain to produce extra rbc. - expands- increase risk of fractures = pts appearance change.

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25
Q

bone changes in thalassaemia major

A

frontal bossing - prominent forehead

enlarged maxilla - prominent cheekbones

depressed nasal bridge - flat nose

protruding upper teeth

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26
Q

What is sideroblastic anaemia?

A

rbc fail to complete form haem - whose biosynthesis happens in mitochondria.

leads to deposits of iron in mitochondria - form ring around nucleus called sideroblast.

can be congenital or acquired.

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27
Q

congenital cause of sideroblastic anaemia

A

delta-aminolevulinate synthase 2 deficiency

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28
Q

acquired causes of sideroblastic anaemia

A

myelodysplasia

alcohol
lead
anti-tb meds

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29
Q

ix of siderblastic anaemia

A

fbc - hypochromic microcytic anaemia - more in congenital

iron studies: high ferritin, high iron, high transferrin saturation

blood film: basophilic stippling of rbc

bm: prussian blue staining - ringed sideroblasts

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30
Q

how would you manage sideroblastic anaemia?

A

support
tx underlying
pyridoxine - might help

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31
Q

what is pyridoxine

causes

consquences

A

vit b6

water soluble vit of b complex group.

converted to pyridoxal phosphate - cofactor for many reactions including transamination, deamination and decarboxylation.

causes: isoniazid therapy

consequences of vit b6 def:
-peripheral neuropathy
- sideroblastic anaemia

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32
Q

is jaundice in first 24 hrs always pathological?

causes?

A

yes

rhesus haemolytic disease
ABO haemolytic disease

hereditary spherocytosis

glucose -6 - phosphodehydrogenase

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33
Q

jaundice in neonate 2-14 days how common

causes

A

upto 40% - common

physiological

due to combo of factors:

  • more rbc,
    more fragile rbc and less developed liver function

more in breastfed babies

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34
Q

jaundice after 14 days - prolonged

causes why?

A

21 days if premature

do jaundice screen:
tft
fbc blood film
urine for mc s and reducing sugars
direct antiglobulin test - coombs test
u and e

conjugated and unconjugated billirubin : raised conjugated tells you biliary atresia - urgent surgical intervention

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35
Q

causes of prolonged jaundice

A

biliary atresia

hypothyroidism
galactosaemia

uti

breast milk jaundice: mc in breastfed. high conc of beta glucoronidase - increase in intestinal absorption of unconjugated billirubin

premature: immature liver function. increase risk of kernicterus (brain damage due to high billirubin)

congenital infections: cmv, toxoplasmosis

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36
Q

before birth how is rbc break down released

A

excreted via placenta.

so normal rise in billirubin shortly after birth, mild yellowing of skin and sclera for 2-7 days.

resolves usually by 10 days

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37
Q

what is haemolytic disease of the newborn?

A

cause of haemolysis - rbc breaking down
and jaundice in neonate.

caused by incompatibility between rhesus antigens on surface of rbc of mother and fetus.

rhesus antigens on rbc vary between individuals.

different to ABO system.

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38
Q

tell me about the rhesus group and haemolytic disease of newborn?

A

many different types of antigens that can be present or not in rhesus group but most important is rhesus D antigen.

is women rhesus D negative and becomes pregnant;l consider if child could be positive - likely pregnancy the blood from baby will go into her bloodsteam. then babies rbc will display negative. mothers immune system will recognise with resus D antigen as foreign produce antibodies and the mother sensistsed to reshus D antigens.

usually doesnt cause problems in first pregnancy - unless early during antepartum haemorrhage.

susequent: mother anti-d antibodies can cross placenta. if fetus is position - antibodies attach to rbc of fetus. immune system of fetus to attack own rbc. = haemolysis, anaemia and high billirubin.

39
Q

test for direct antiglolubin testing for haemolysis

A

direct coombs

40
Q

how to manage neonatal jaundice?

A

plot and monitor on tx threshold charts - total billirubin. - specific for gestational age.

age of baby -x
total billirubin - y

phototherapy- adequate.

extremely high: exchange transfuson - remove blood from neonate and replace with donor blood

41
Q

what is kernicterus

presentation

damage can cause?

A

brain damage due to excess billirubin

can cross blood brain barrier.

direct damage to cns

less responsive
floppy
drowsy baby
poor feeding.

cerebral palsy
LD
deafness

42
Q

What is fanconi anaemia?

features

A

autosomal recessive.

featureS:
haematological: aplastic anaemia - increased risk of aml

neurological

skeletal abnormalities: short stature
thumb/radius abnormalities

cafe au lait spots

43
Q

what is fanconi syndrome?

A

generalised reabsorptive disroder or renal tubular transport in proximal convoluted tubule resulting in:

type 2 (proximal) renal tubular acidosis

polyuria
aminoaciduria
glycosuria
phosphaturia
osteomalacia

44
Q

causes of fanconi syndrome?

A

cystinosis - mc children
sjogrens syndrome
multiple myeloma
nephrotic syndrome
wilsons disease

45
Q

What is sickle cell anaemia?
genetic component?

protective against.

A

autosomal recessive
synthesis of abnormal hb chain termed HbS.

mc : african heterozygous condition offers some protection against malaria.
such ppl only sx if severely hypoxic

46
Q

ix for sickle cell anaemia

A

haemoglobin electrophoresis

47
Q

pathophysiology of sickle cell anaemia

A

hb - normal : HbAA
sickle cell trait: HbAS
homozygous sickle cell diseasE: HbSS: some pts inherit 1 HbS and another abnormal hb (HbC) = milder form of sickle cell disease (HbSC)

polar amino acid glutamate substituted by non polar valine in each of 2 beta chains(codon 6) - decreases water solubility of deoxy-Hb

in deoxygenated state HbS molecules polymerise and cause RBC to sickle

sickle cells fragile and haemolyse : block small bv and cause infarction

48
Q

deoxygenated state HbS molecule polymerise and cause rbc to sickle at what po2?

A

HbAS - po2 2.5-4kpa
HbSS - po2 5-6 kpa

49
Q

how would you manage sickle cell anaemia?

longer term
vaccine

A

crisis mix:
analgesia: opiates
rehydrate
oxygen
consider abx if infectio
blood transfusion
exchange transfusion: if neuro comps

longer term x:
hydroxyurea - increase HbD levels - prophylactic mx of sickle cell anaemia to prevent painful eps

sickle cell pts - pneumoccocal polysaccharide vaccine every 5 yrs

avoid triggers - stay hydrated
vaccination
abx prophylaxis - penicillin v - phenoxymethyl

hydroxycarbamide - hbf stimulator
crizanlizumab
blood transfusion
m transplant

50
Q

indications for blood transfusion in sickle cell crisis?

A

severe or sx anaemia, pregnancy, pre-operative

dont rapidly reduce percentage of Hb S containing cells

51
Q

indications for exchange transfusion in sickle cell crisis

A

acute vaso-occlusive crisis - stroke, acs, multiorgan failure, splenic sequestration crisis

rapidly reduce percentage of HbS containing cells

52
Q

types of sickle cell crisis

A

thrombotic, “vaso-occlusive”, “painful crises”

acs

anaemia: aplastic, sequestration

infection

53
Q

thrombotic crisis - sickle cell crisis - tell me about it

precipitated by

diagnosis

infarcts occur where

A

painful crisis/vaso-occlusive

precipated by infection dehydration, deoxygenation (high altitude)

clinical diagnosis

infarcts occur in various organs including bones (avascular necrosis of hip, hand-food syndrome in children lungs spleen and brain)

54
Q

acs - sickle cells crisis - tell me about it

sx

mx

A

vaso-occlusion within pulmonary microvasculature : infarction in lung parenchyma

dyspnoea
chest pain
pulmonary infiltrates on cxr, low po2

mx:
pain relief
resp support: ox therapy
abx: infection may precipitate: hard to distinguish from pneumonia
tranfusion: improves oxygenation

mc cause of death after childhood

55
Q

aplastic crisis - sickle cell crisis

caused by

patho

A

caused by infection with parovirus

sudden fall in hb

bm suppression causes reduced reticulocyte count

56
Q

sequestration crisis - sickle cell crisis

tell me about it

associated with?

A

sickling within organs like spleen or lungs cause pooling of blood with worsening of anaemia

associated with increased reticulocyte count.

57
Q

pathophysiology of sickle cell anaemia

A

at 32-36 weeks gestation hbF production decreases and HbA increases.

gradual transition

by 6 months very little hbf produced.

pts with sickle cell has hbs. - sickle cellshaped.

58
Q

complications of sickle cell anaemia

A

anaemia
increased risk of infection
ckd
sickle cell crisis
acs
stroke
avascular necrosis: large joint like the hip

pulmonary htn
gallstones

priapism - painful and persistent penile erections

59
Q

triggers of sickle cells crisis

A

dehydration
infection
stress
cold weather

60
Q

how does crizanlizumab work?

A

monoclonal antibody target p selectin.

p selectin - adhesion molecule on endothelial cells on inside walls of blood vessels and platelets.

prevents rbc from sticking to bv wall and reduces frequency of vaso-occlusive crisis

61
Q

sickle cell trait protective against

A

malaria
if 1 copy - trait - reduce severity of malaria

selective advantage

62
Q

screening for sickle cell

A

newborn blood spot - 5 days of age.

pregnant women at high risk of carrier - offered testing

63
Q

tell me about g6pd

A

rbc enzyme defect.

mediterranean and africa

xlinked recessive.

many drugs precipitate a crisis aswell as infections and broad(fava) beans

64
Q

features of g6pd

A

neonatal jaundice

intravascular haemolysis

gallstones common

splenomegaly poss

heinz bodies on blood film: bite and blister cells poss

65
Q

how would you diagnose g6pd

A

g6pd enzyme assay

check levels around 3 months after acute ep of haemolysis, rbc with most severely reduced g6pd activity will have haemolysed = reduced g6pd activity = not be measured in assay = false negative results

66
Q

what drugs can cause haemolysis

A

anti-malarials: primaquine

ciprofloxacin

sulph-group drugs: sulphonamides,sulphasalazine, sulfonylureas

67
Q

some drugs safe for not causing g6pd

A

penicillins
cephalosporins
macrolides
tetracyclines
trimethoprim

68
Q

g6pd - affect which gender

A

xlinked recessive
only men

69
Q

what is hereditary spherocytosis?

A

mc hereditary haemolytic anaemia - northern europe

autosomal dominant defect of rbc cytoskeleton

normal biconcave disc shape replaced by sphere shaped rbc

rbc survival reduced as destroyed by spleen

70
Q

presentation of hereditary spherocytosis

A

failure to thrive

jaundice, gallstones

splenomegaly

aplastic crisis precipitated by parovirus infection

degree of haemolysis variable

MCHC elevated

71
Q

how would you diagnose hereditary spherocytosis?

A

ema binding test
cyrohaemolysis

if atypuical: electrophoresis analysis of erythrocyte membranes

72
Q

mx of hereditary spherocytosis

A

acute haemolytic crisis: tx supportive , transfusion if needed

longer term: folate replacement
splenectomy

if gallstone present: remove gallblader: cholecystectomy

73
Q

pt with spherocytosis present with anaemia

identify causative infectious agent.

A

parovirus cause

74
Q

what is zieve syndrome?

A

rare clinical syndrome of coombs-negative haemolysis , cholestatic jaundice, transient hyperlipidemia associated with heavy alcohol use- after binge

stop alcohol - itll get better

75
Q

hereditary causes of haemolytic anaemia

A

membrane: hereditary spherocytosis/elliptocytosis

metbaolism: g6pd

haemoglobinopathies: sickle cell, thalassaemia

76
Q

acquired haemolytic anaemia split into acquired immune causes?

A

coombs-positive

autoimmune: warm/cold antibody type

alloimmune: transfusion reaction, haemolytic disease newborn

drug: methyldopa, penicillin

77
Q

acquired haemolytic anaemia split into acquired non immune cause

A

coombs-negative

microangiopathic haemolytic anaemia: ttp/hus, dic, malignancy, pre-eclampsia

prosthetic heart valves

infections: malaria

drug: dapsone

zieve syndrome

78
Q

what is autoimmune haemolytic anaemia?

2 types

causes

A

divide into warm and cold types.

depends of temp that antibodies best cause haemolysis.

idiopathic
secondary to lymphoproliferative disorder
infection
drugs

79
Q

ix for autoimmune haemolytic anaemia

A

general features of haemolytic anaemia: anaemia, reticulocytosis, low haptoglobin, raised lactate dehydrogenase (LDH) and indirect bilirubin
blood film: spherocytes and reticulocytes

specific for autoimmune:
positive direct antiglobulin test - coombs test

80
Q

causes of warm autoimmune haemolytic anaemia

A

mc type of autoimmune haemolutic anaemia

idiopathic
autoimmune diseasE: sle

neoplasia: lymphoma, cll

drugs: methyldopa

81
Q

mx of warm autoimmune haemolytic anaemia

A

tx of underlying disorder

steroids +/- rituximab - 1st line

82
Q

cold autoimmune haemolytic anemia what ig is it?

what temp

mediated by what

sx ?

A

igm - causes haemolysis best at 4 degrees.

mediated by complement and mc intravascular.

sx of raynauds and acrocyanosis.

pts respond less well to steroids

83
Q

causes of cold autoimmune haemolytic anaemia

A

neoplasia: lymphoma

infections: mycoplasma, ebv

84
Q

warm autoimmune haemolytci - what ig - (antibody~)

what temp best

where?

A

igg

body temp

haemolysis in extravascular sites eg spleen

85
Q

mx of autoimmune haemolytic anaemia

A

blood transfusions

prednisolone

rituximab - monoclonal antibody against b cells

splenectomy

86
Q

what is haemophilia?

a
b

lack of what factors

A

x linked recessive disorder of coagulation. (bleeding disorder)

30% have no fhx of it.

A - due to def of factor VIII whilst in B (christmas disease) lack fo factor IX

10-15% pts with haem a get antibodies to factor VIII tx

87
Q

features of haemophilia

A

haemoarthroses
haematomas

prolonged bleeding after surgery or trauma

88
Q

blood tests for haemophilia

A

prolonged aptt

bleeding time, thrombin time, prothrombin time normal

89
Q

how to diagnose haemophilia

A

bleeding scores
coagulation factor assays
genetic testing

90
Q

how would you manage haemophilia

comp of tx

A

affected clotting factors (VIII and ix) - iv infusion - either reguarly or in response to bleeding.

comp : formation of antibodies (inhibitors) against treamtent,so they become ineffective tx

91
Q

areas of bleeding in haemophilia

A

oral mucosa
nosebleeds - epistaxis
gi tract
urinary tract - haematuria
intracranial haemorrhage
surgical wounds

92
Q

when does haemophilia present?

how can it present?

A

neonates or early childhood.

intracranial haemorrhage
haematoma
cord bleeding in neonates

93
Q

explain x linked recessive for haemophilias in terms of affecting men and women

A

men only have 1 x - require 1 abnormal copy to have disease.

females have 2 x - when 1 copy affected - asx carriers.

haem a and b - affects males more. if female affected they need to have affected father and mother who is either carrier or affected

94
Q

Explain the iron deficiency testing
the knowledge behind them

tibc
ferritin

A

Phase 3a Finals (25 decks)

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