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Phase 3a Finals > Paediatric Haematology > Flashcards

Paediatric Haematology Flashcards

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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
bone changes in thalassaemia major
frontal bossing - prominent forehead enlarged maxilla - prominent cheekbones depressed nasal bridge - flat nose protruding upper teeth
26
What is sideroblastic anaemia?
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.
27
congenital cause of sideroblastic anaemia
delta-aminolevulinate synthase 2 deficiency
28
acquired causes of sideroblastic anaemia
myelodysplasia alcohol lead anti-tb meds
29
ix of siderblastic anaemia
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
30
how would you manage sideroblastic anaemia?
support tx underlying pyridoxine - might help
31
what is pyridoxine causes consquences
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
32
is jaundice in first 24 hrs always pathological? causes?
yes rhesus haemolytic disease ABO haemolytic disease hereditary spherocytosis glucose -6 - phosphodehydrogenase
33
jaundice in neonate 2-14 days how common causes
upto 40% - common physiological due to combo of factors: - more rbc, more fragile rbc and less developed liver function more in breastfed babies
34
jaundice after 14 days - prolonged causes why?
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
35
causes of prolonged jaundice
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
36
before birth how is rbc break down released
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
37
what is haemolytic disease of the newborn?
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.
38
tell me about the rhesus group and haemolytic disease of newborn?
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
test for direct antiglolubin testing for haemolysis
direct coombs
40
how to manage neonatal jaundice?
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
what is kernicterus presentation damage can cause?
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
What is fanconi anaemia? features
autosomal recessive. featureS: haematological: aplastic anaemia - increased risk of aml neurological skeletal abnormalities: short stature thumb/radius abnormalities cafe au lait spots
43
what is fanconi syndrome?
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
causes of fanconi syndrome?
cystinosis - mc children sjogrens syndrome multiple myeloma nephrotic syndrome wilsons disease
45
What is sickle cell anaemia? genetic component? protective against.
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
ix for sickle cell anaemia
haemoglobin electrophoresis
47
pathophysiology of sickle cell anaemia
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
deoxygenated state HbS molecule polymerise and cause rbc to sickle at what po2?
HbAS - po2 2.5-4kpa HbSS - po2 5-6 kpa
49
how would you manage sickle cell anaemia? longer term vaccine
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
indications for blood transfusion in sickle cell crisis?
severe or sx anaemia, pregnancy, pre-operative dont rapidly reduce percentage of Hb S containing cells
51
indications for exchange transfusion in sickle cell crisis
acute vaso-occlusive crisis - stroke, acs, multiorgan failure, splenic sequestration crisis rapidly reduce percentage of HbS containing cells
52
types of sickle cell crisis
thrombotic, "vaso-occlusive", "painful crises" acs anaemia: aplastic, sequestration infection
53
thrombotic crisis - sickle cell crisis - tell me about it precipitated by diagnosis infarcts occur where
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
acs - sickle cells crisis - tell me about it sx mx
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
aplastic crisis - sickle cell crisis caused by patho
caused by infection with parovirus sudden fall in hb bm suppression causes reduced reticulocyte count
56
sequestration crisis - sickle cell crisis tell me about it associated with?
sickling within organs like spleen or lungs cause pooling of blood with worsening of anaemia associated with increased reticulocyte count.
57
pathophysiology of sickle cell anaemia
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
complications of sickle cell anaemia
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
triggers of sickle cells crisis
dehydration infection stress cold weather
60
how does crizanlizumab work?
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
sickle cell trait protective against
malaria if 1 copy - trait - reduce severity of malaria selective advantage
62
screening for sickle cell
newborn blood spot - 5 days of age. pregnant women at high risk of carrier - offered testing
63
tell me about g6pd
rbc enzyme defect. mediterranean and africa xlinked recessive. many drugs precipitate a crisis aswell as infections and broad(fava) beans
64
features of g6pd
neonatal jaundice intravascular haemolysis gallstones common splenomegaly poss heinz bodies on blood film: bite and blister cells poss
65
how would you diagnose g6pd
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
what drugs can cause haemolysis
anti-malarials: primaquine ciprofloxacin sulph-group drugs: sulphonamides,sulphasalazine, sulfonylureas
67
some drugs safe for not causing g6pd
penicillins cephalosporins macrolides tetracyclines trimethoprim
68
g6pd - affect which gender
xlinked recessive only men
69
what is hereditary spherocytosis?
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
presentation of hereditary spherocytosis
failure to thrive jaundice, gallstones splenomegaly aplastic crisis precipitated by parovirus infection degree of haemolysis variable MCHC elevated
71
how would you diagnose hereditary spherocytosis?
ema binding test cyrohaemolysis if atypuical: electrophoresis analysis of erythrocyte membranes
72
mx of hereditary spherocytosis
acute haemolytic crisis: tx supportive , transfusion if needed longer term: folate replacement splenectomy if gallstone present: remove gallblader: cholecystectomy
73
pt with spherocytosis present with anaemia identify causative infectious agent.
parovirus cause
74
what is zieve syndrome?
rare clinical syndrome of coombs-negative haemolysis , cholestatic jaundice, transient hyperlipidemia associated with heavy alcohol use- after binge stop alcohol - itll get better
75
hereditary causes of haemolytic anaemia
membrane: hereditary spherocytosis/elliptocytosis metbaolism: g6pd haemoglobinopathies: sickle cell, thalassaemia
76
acquired haemolytic anaemia split into acquired immune causes?
coombs-positive autoimmune: warm/cold antibody type alloimmune: transfusion reaction, haemolytic disease newborn drug: methyldopa, penicillin
77
acquired haemolytic anaemia split into acquired non immune cause
coombs-negative microangiopathic haemolytic anaemia: ttp/hus, dic, malignancy, pre-eclampsia prosthetic heart valves infections: malaria drug: dapsone zieve syndrome
78
what is autoimmune haemolytic anaemia? 2 types causes
divide into warm and cold types. depends of temp that antibodies best cause haemolysis. idiopathic secondary to lymphoproliferative disorder infection drugs
79
ix for autoimmune haemolytic anaemia
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
causes of warm autoimmune haemolytic anaemia
mc type of autoimmune haemolutic anaemia idiopathic autoimmune diseasE: sle neoplasia: lymphoma, cll drugs: methyldopa
81
mx of warm autoimmune haemolytic anaemia
tx of underlying disorder steroids +/- rituximab - 1st line
82
cold autoimmune haemolytic anemia what ig is it? what temp mediated by what sx ?
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
causes of cold autoimmune haemolytic anaemia
neoplasia: lymphoma infections: mycoplasma, ebv
84
warm autoimmune haemolytci - what ig - (antibody~) what temp best where?
igg body temp haemolysis in extravascular sites eg spleen
85
mx of autoimmune haemolytic anaemia
blood transfusions prednisolone rituximab - monoclonal antibody against b cells splenectomy
86
what is haemophilia? a b lack of what factors
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
features of haemophilia
haemoarthroses haematomas prolonged bleeding after surgery or trauma
88
blood tests for haemophilia
prolonged aptt bleeding time, thrombin time, prothrombin time normal
89
how to diagnose haemophilia
bleeding scores coagulation factor assays genetic testing
90
how would you manage haemophilia comp of tx
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
areas of bleeding in haemophilia
oral mucosa nosebleeds - epistaxis gi tract urinary tract - haematuria intracranial haemorrhage surgical wounds
92
when does haemophilia present? how can it present?
neonates or early childhood. intracranial haemorrhage haematoma cord bleeding in neonates
93
explain x linked recessive for haemophilias in terms of affecting men and women
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
Explain the iron deficiency testing the knowledge behind them tibc ferritin

Phase 3a Finals (26 decks)

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