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Phase 3a > Paeds - Haematology > Flashcards

Paeds - Haematology Flashcards

1
Q

what is the definition of anaemia in neonates, in children from 1 to 12 months and children 1 year to 12 years?

A

neonates - Hb less than 140g/L
1 month to 12 months - HB less than 100g/L
1 year to 12 years - Hb less tha 110g/L

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2
Q

what can anaemia result from?

A

reduced red cell production, increased red cell destruction (haemolysis)
blood loss

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3
Q

what is indicative of ineffective erythropoiesis?

A

normal reticulocyte count but abnormal mean cell (volume) macrocytic or microcytic

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4
Q

what are the clinical features of iron deficiency anaemia?

A

usually asymptomatic until the HB drops below 60-70g/L
as it gets lower: children tire easily, young infants feed more slowly
they may appear pale

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5
Q

how is iron deficiency anemia diagnosed?

A

a low haemoglobin and haematocrit level
MCV - low
MCH - the mean Hb mass per cell - is low
low MCV and low MCH = hypochromic anemia
there will be a decrease serum iron
the total iron-binding capacity will be increased
transferrin saturation will be less than 16%
there will be a low serum ferritin

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6
Q

what can cause iron deficiency anemia?

A

inadequate dietary intake
poor intestinal absorption - coeliac disease
increased iron requirement - children have increase iron demands during rapid periods of growth

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7
Q

how is iron deficiency anaemia managed?

A

dietary advice and oral iron supplement

ferrous sulfate

give until Hb back to normal + 3 months

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8
Q

what is red cell aplasia?

A

complete absence of red cell production

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9
Q

what can cause red cell aplasia?

A
  • congenital
  • transient erythroblastopenia of childhood
  • parvovirus B19 infection - only causes red cell aplasia in children with inherited haemolytic anaemia
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10
Q

what are the diagnostic cues of red cell aplasia?

A

low reticulocyte count despite low Hb
normal bilirubin
negative direct antiglobulin test (coombs test)
absent red cell precursors on bone marrow examination

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11
Q

what is diamond-blackfan anaemia and how is it treated?

A

rare disease
causes anaemia
treated with oral steroids and monthly red blood cell transfusions are given to children if they are steroid unresponsive

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12
Q

what is transient erythroblastopenia of childhood?

A

it is triggered by viral infections and has the same haematological features and diamond blackfan anemia

usually recovers in weeks

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13
Q

what are some common causes of haemolytic anaemia in children?

A
  • red cell membrane disorders (heredity spherocytosis)
  • red cells enzyme disorders (G6PD deficiency)
  • haemoglobinopathies (abnormal haemoglobulins e.g. beta thalassaemia and sickle cell disease)
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14
Q

what does haemolysis lead to?

A

anemia
hepatomegaly and splenomegaly
increased blood levels of unconjugated bilirubin
excess urinary urobilinogen

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15
Q

what are some diagnostic cues to haemolysis?

A

raised reticulocyte count on blood film
unconjugated bilirubinemia and raised urinary urobilinogen
abnormal appearance of red cells on blood film
if there is an immune cause the there would be a positive direct antiglobulin
increased red blood cell precursors in bone morrow?

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16
Q

what is hereditary spherocytosis?

A

it is an inherited abnormality of the RBC and causes defects in the structural membrane proteins
It is inherited dominantly in 75% of people

The abnormal cells are spherical and are removed by the spleen, resulting in reduced red-cell life span

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17
Q

what is the presentation of hereditary spherocytosis?

A

pallor
FTT
jaundice (due to increased levels of unconjugated bilirubin
splenomegaly

*aplastic crisis may be precipitated by parvovirus infection.

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18
Q

what are the investigations for hereditary spherocytosis?+

A

FBC - Hb may be normal or reduced, MCHC (average conc of Hb in blood cell) may be elevated

Reticulocyte count - will be elevated

blood smear - will show spherocytes and may also sow pincer cells

there will be elevated unconjugated bilirubin

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19
Q

how is hereditary spherocytosis managed?

A

less than 28 days - supportive care +/- a RBC transfusion, sometimes folic acid may be added

If the neonate has jaundice use phototherapy or exchange transfusion

In children older than 28 days with severe HS :
supportive care and RBC transfusion for symptomatic anaemia until a time when a splenectomy is deemed appropriate (wait until at least 6 years of age)
also give folic acid supplementation

Mild/moderate HS - generally just supportive care
folic acid can be added in patients with severe haemolysis

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20
Q

why does glucose 6 phosphate dehydrogenase deficiency cause anaemia?

A

G6PD is essential for preventing oxidative damage to red blood cells.
Red cells lacking G6PD are susceptible to to oxidant induced haemolysis.

So when there is oxidative stress heamolysis can occur but patients are usually asymptomatic until oxidative stress

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21
Q

what is the inheritance pattern of G6PD deficiency?

A

x linked recessive

  • it is common among populations originating from parts of the world where malaria is or was common
    (africa, asia, mediterranean and the middle east
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22
Q

what are the things than can cause oxidative stress and should be avoided in patients with G6PD deficiency?

A

metabolic acidosis
foods and drinks (red wine, soy products, red wine)
painkillers - aspirin and ibuprofen
infections - viral hepatitis, pneumonia
certain medication - quinidine, primaquine, chloroquine, ciprofloxacin

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23
Q

what is the presentation of G6PD deficiency?

A 
neonatal jaundice is often seen 
intravascular haemolysis 
gall stones
splenomegaly may be present 
pallor 
dark urine
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24
Q

what investigations would you perform for G6PD deficiency?

A

FBC - anaemia and normochromic red cell index
reticulocyte count - typically elevated
Urinalysis - haemoglobinuria
unconjugated bilirubin will be elevated
lactate dehydrogenase will be high
blood smear will show anisocytosis, abnormal forms and bite cells
blood film will show heinz bodies

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25
Q

how is G6PD deficiency treated?

A

in acute haemolysis:
supportive care plus folic acid
If there is severe anaemia - blood transfusion

In neonates with prolonged jaundice - phototherapy

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26
Q

what is the inheritance pattern of sickle cell anaemia?

A

autosomal recessive

27
Q

what is sickle cell anaemia and what causes it?

A

it is caused by a single gene defect in the beta chain of haemoglobin which results in production of sickle haemoglobin (HbS)

polymerisation of sickle Hb in RBCs can be triggered by hypoxia and acidosis which causes cells to become rigid and deform into a sickle shape. These deformed cells may cause vaso-occlusion in the small vessels or adhere to vascular endothelium - this slows blood flow. These deformed cells are also prone to haemolysis, which contributes to anaemia.

28
Q

what are the clinical features of sickle cell anaemia?

A

anaemia - all have moderate - - anaemia with clinically detectable jaundice from chronic haemolysis

  • increased susceptibility to infection from encapsulated organisms such as pneumococci and haemophilus influenzae. Also increased risk of osteomyelitis caused by salmonella and other organisms
  • Painful Crisis - vaso-occlusive crisis - pain may affect many organs of the body with varying frequency and severity - pain can affect bones in limbs and spine
  • Dactylitis - swollen hands and feet
  • acute anaemia (sudden drop in Hb), haemolytic crisis, aplastic crisis (parvo virus infection), sequestration crisis (sudden splenic or hepatic enlargement - abdo pain and circulatory collapse from accumulation of sickled cells in the spleen)
  • jaundice
  • pallor
  • tachycardia
  • lethargy
  • failure to thrive
  • Priapism (prolonged erection)
  • splenomegaly
  • acute chest syndrome
29
Q

what are the long term problems of sickle cell anaemia?

A 
short and delayed puberty 
stoke and cognitive problems
cardiac enlargement 
renal dysfunction 
gall-stones 
leg ulcers
30
Q

what investigations would you perform for sickle cell?

A 
heel prick test 
Hb electrophoresis 
blood smear - presence of nucleated red blood cells, sickle-shaped cells and howell jolly bodies 
increase reticulocytes 
FBC will show anaemia
31
Q

how do you manage sickle cell anaemia?

A

avoid precipitants of crises
Pneumococcal immunisation, antibiotic prophylaxis with penicillin
pain management

For Crisis
- pain relief, oxygen, hydration

Prevention of recurrent crisis:
hydroxycarbamide (increases fetal Hb production and protects against further crisis)

stem cell transplant if severe

32
Q

what are some causes of normocytic anemia?

A 
anaemia of chronic disease 
chronic kidney disease
aplastic anaemia 
haemolytic anaemia 
acute blood loss
33
Q

what is beta-thalassaemia?

A

it is an inherited microcytic anaemia caused by mutations of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis
it is an autosomal recessive condition

34
Q

what is the presentation of beta thalassaemia?

A

Will not present until 3-6 months of age when fetal Hb is replaced by adult Hb

jaundice 
severe anaemia 
failure to thrive 
hepatosplenomegaly 
delayed puberty 
facial - maxillary overgrowth, skull bossing

if they have beta-thalassaemia trait - asymptomatic

35
Q

what investigations would you perform for beta thalassaemia?

A 
FBC
Blood smear
reticulocyte count - raised 
Hb analysis 
LFTs
Skull x-ray
- microcytic anemia

there would be no HbA but increased HbA2

36
Q

how would you treat beta-thalassaemia?

A

Transfusions
iron monitoring and chelation (desferrioxamine) - this is because people having regular transfusions can have iron overload

they may need a splenectomy
they may also need a stem cell transplant if severe

37
Q

what is fanconi syndrome and what are the symptoms?

A

generalised proximal tubular dysfunction

polydipsia and polyuria
salt depletion and dehydration 
hyperchloraemic metabolic acidosis 
rickets 
FTT/poor growth
38
Q

what kind of anemia is fanconi anaemia?

how is it inherited?

A

aplastic

AR

39
Q

what are the features of fanconi anaemia?

A

short stature
abnormal radii and thumbs
renal malformation
pigmented skin lesions (cafe au lait spots)
bone marrow failure which becomes apparent at 5-6 years.
Neonates with Fanconi anaemia nearly always have abnormal blood count.
they have an increased risk of acute myeloid leukaemia

40
Q

what is the treatment for fanconi anaemia?

A

bone marrow transplant

41
Q

what are the main causes of haemolytic anaemia in the new born?

A

immune (haemolytic disease of the newborn)
red cell destruction (hereditary spherocytosis)
red cell enzyme disorders (G6PD deficiency )
abnormal haemoglobins

42
Q

what is haemolytic disease of the new born?

A

it is immune haemolytic anaemia
it is due to antibodies against blood group antigens

The mother makes antibodies against the baby’s blood group and these antibodies cross the placenta into the baby’s circulation causing fetal or neonatal anaemia

43
Q

how should rhesus D negative women be treated?

A

anti D immunoglobulin at 28 weeks and following the delivery of a rhesus positive infant or at 40 weeks

44
Q

what is the basic pathophsyiology of rhesus negative mothers and why does it only affect second pregnancy?

A

along with the ABO system the Rhesus system is the most important antigen found on red blood cells. The D antigen is the most important antigen of the rhesus system
around 15% of mothers are rhesus negative (Rh -ve)
if a Rh -ve mother delivers a Rh +ve child a leak of fetal red blood cells may occur
this causes anti-D IgG antibodies to form in mother
in later pregnancies these can cross placenta and cause haemolysis in fetus
this can also occur in the first pregnancy due to leaks

45
Q

what tests should be performed for all babies born to rhesus negative mother?

A

all babies born to Rh -ve mother should have cord blood taken at delivery for FBC, blood group & direct Coombs test
Coombs test: direct antiglobulin, will demonstrate antibodies on RBCs of baby
Kleihauer test: add acid to maternal blood, fetal cells are resistant

46
Q

what can the affected fetus from a rhesus negative mother present with ?

A 
oedematous (hydrops fetalis, as liver devoted to RBC production albumin falls)
jaundice, anaemia, hepatosplenomegaly
heart failure
kernicterus
treatment: transfusions, UV phototherapy
47
Q

what is haemophilia?

A

it is a bleeding disorder
usually inherited - X-linked recessive disorder of coagulation

Haemophilia A is due to a deficiency of clotting factor VIII 
Haemophilia B (christmas disease) due to a lack of clotting factor IX

there is also acquired haemophilia - may have autoimmune-related aetiology with no inheritance pattern

48
Q

what are the clinical features of haemophilia?

A

recurrent or severe bleeding - spontaneous or trauma-induced bleeding in joints and muscles; excessive bleeding after surgery, dental procedures or trauma, recurrent nasal/oral mucosa bleeding; easy bruising, GI bleeding, haematuria

bleeding into muscles - MSK bleeding is the hallmark of haemophilia
hemarthrosis - bleeding in joint cavity
haematomas

49
Q

what investigations would you perform for haemophilia?

A

FBC
APTT - activated partial thromboplastin time will usually prolonged
plasma factor VIII and IX assay - levels of factor VIII and IX are used to establish diagnosis and severity
prothrombin time (PT) normal
bleeding time - normal
LFTs

50
Q

what are common causes of bruising in neonates?

A

coagulation disorders (hemorrhagic disease of the new born, haemophilia)
Thrombocytopenia (maternal alloimmune thrombocytopenia)
birth trauma and congenital infections e.g. rubella

51
Q

what are common causes of bruising in infants?

A

accidental injury
non-accidental injury
coagulation disorders
thrombocytopenia (ITP, congenital infection)

52
Q

what are common causes of bruising in older children?

A

accidental injury
non-accidental injury
coagulation disorders (haemophilia, VWD, liver disease)
thrombocytopenia - ITP, acute lymphoblastic leukaemia, meningococcal septicaemia, congenital infection

53
Q

what is von willebrand’s disease?

A

most common inherited bleeding disorder
there is variable penetrance and phenotypic expression

it characteristically behaves like a platelet disorder

it is due to either quantitative or qualitative abnormality of von willebrand’s factor

54
Q

what is the role of vWF?

A

it promotes platelet adhesion to damages endothelium

55
Q

what are the different types of von willebrand’s disease?

A

type 1: partial reduction in vWF
type 2: abnormal form of vWF
type 3: total lack of vWF (AR)

56
Q

what are the symptoms of von willebrand’s disease?

A 
bleeding from minor wounds 
post operative bleeding 
fam history of bleeding 
easy or excessive bruising 
menorrhagia
57
Q

what investigations would you perform for von willebrand’s disease?

A

prothrombin time will be normal
activated partial thromboplastin time (APTT) may be prolonged but not always
von willebrand factor antigen
von Willebrand factor function assay (ristocetin cofactor and collagen binding assays)
Factor VIII activity value may be decreased

58
Q

how is VWD managed?

A

Antifibrinolytic therapy - tranexamic acid

desmopressin

2nd line vWB containing concentrate

*if acute severe bleeding give vWB factor concentrate and platelet transfusion as first line

59
Q

what is thrombocytopenia?

A

low platelets

60
Q

how is haemophilia A and B managed?

A

if there is bleeding
A - recombinant factor VIII concentrate
B - recombinant factor IX concentrate

61
Q

what is ITP?

A

immune thrombocytopenia is the commonest cause of thrombocytopenia in childhood.
It is usually caused by the destruction of circulating platelets by antiplatelet IgG autoantibodies.
the reduced platelet count may be accompanied by a compensatory increase of megakaryocytes in the bone marrow

62
Q

what are the clinical features of ITP?

A

most children present between the ages of 2 and 10 often with the onset 1-2 weeks after a viral infection

petechiae, purpura and/or superficial bruising
it can causes epistaxis and other mucosal bleeding

absent splenomegaly or hepatomegaly

63
Q

how is ITP diagnosed?

A

ITP is a diagnosis of exclusion
low platelet count less on blood smear

*in younger children, a congenital cause (such as Wiskott-Aldrich or Bernard-Soulier syndromes) should be considered.

bone marrow examination should be performed if the child is going to be treated with steroids, since the treatment may temporarily mask the diagnosis of acute lymphoblastic leukaemia (ALL)

64
Q

how is ITP managed?

A

usually the disease is acute, benign and self-limiting
most children can be managed at home and do not require hospital admission.

most children do not need therapy
the treatment options include oral prednisolone ar IVIG

platelet transfusions are reserved for life-threatening haemorrhage.

Phase 3a (41 decks)

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