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NP- Phase 3a Medicine > Paeds- Haematology > Flashcards

Paeds- Haematology Flashcards

1
Q

describe the haemologlobin levels required for a diagnosis of anaemia in:

  • neonates
  • 1 month-12 months
  • 1 year- 12 years
A

Neonate: Hb <140g/L

1month-12months: Hb<100g/L

1year-12years: Hb<110g/L

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2
Q

what 3 things can cause anaemia?

A
  • impaired red cell production
  • increased red cell destruction (haemolysis)
  • blood loss
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3
Q

causes of impaired red cell production

A
  • red cell aplasia- parvovirus B19 infection, fanconi anaemia, aplastic anaemia
  • ineffective erythropoiesis- iron deficiency, folic acid deficiency, chronic inflammation
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4
Q

causes of haemolysis

A
  • hereditary spherocytosis
  • G6PD deficiency
  • thalassaemia, sickle cell
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5
Q

what can cause severe anaemia at birth?

A

haemolytic disease of the foetus (Rhesus disease)

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6
Q

what antibodies are present in Rhesus?

A
  • anti-D
  • anti-A/ anti B
  • anti-Kell
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7
Q

how is Rhesus diagnosed?

A

positive direct anti-globulin test= Coombs test

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8
Q

how does haemolytic disease of the newborn present clinically?

A
  • pallor
  • hepatosplenomegaly
  • oedema
  • ascites
  • petechiae
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9
Q

what is Fanconi anaemia?

A
  • most common inherited form on aplastic anaemia
  • autosomal recessive
  • mutations in FANC genes
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10
Q

clinical presentation of fanconi anaemia

A

congenital abnormalities- short stature etc

bone marrow failure

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11
Q

causes of iron deficiency anaemia

A
  • inadequate intake
  • malabsorption
  • blood loss
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12
Q

how is iron deficiency anaemia diagnosed?

A

microcytic, hypochromic, low-normal reticulocytes

low ferritin and serum iron

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13
Q

what is haemolysis?

A

increased red blood cell turnover

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14
Q

how does haemolytic anaemia present clinically?

A
  • jaundice
  • pallor
  • neonatal ascites
  • anaemia/ failure to thrive
  • hepato/splenomegaly
  • gall stones
  • aplastic crisis
  • thromboembolism
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15
Q

how is a patient with haemolytic anaemia investigated?

A
  • raised reticulocyte count
  • unconjugated bilirubinaemia and increased urinary urobillinogen
  • coombs test
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16
Q

how is G6PD deficiency inherited?

A

x-linked recessive

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17
Q

how does G6PD deficiency present clinically?

A

neonatal jaundice

intermittent episodes of acute intravascular haemolysis

fever, malaise, dark urine, abdo pain

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18
Q

how is G6PD deficiency diagnosed?

A
  • between episodes- normal blood picture !

- measure G6PD activity in red blood cells- measure during and after crisis

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19
Q

describe the inheritance pattern of hereditary spherocytosis

A
  • autosomal dominant

- 25% of cases- no family history, caused by new mutation

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20
Q

what is hereditary spherocytosis?

A

genetic condition in which mutations occur in the genes coding for proteins of the red cell membrane

red cells lose part of membrane when passing through spleen= reduction in surface-to-volume ratio

leads to spheriodal cells

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21
Q

clinical features of hereditary spherocytosis

A
  • jaundice (intermittent)
  • anaemia
  • splenomegaly
  • aplastic crisis
  • gallstones

can be asymptomatic

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22
Q

if a patient presented with suspected hereditary spherocytosis, what investigations would be done?

A
  • blood film is diagnostic

- do coombs test to rule out autoimmune cause

23
Q

how is hereditary spherocytosis managed?

A
  • oral folic acid
  • splenectomy if severe
  • blood transfusions
  • cholecystectomy
24
Q

describe the mutation pattern of sickle cell anaemia

A

autosomal recessive inheritance on chromosome 11 of abnormal haemoglobin gene

HbS forms- due to point mutation of codon 6 in B globulin gene- changes glutamine to valine

25
Q

what are the 3 types of sickle cell anaemia?

A

HbSS- sickle cell anaemia (HbS from both parents)

HbSC- sickle cell disease (HbS from one parent, HbC from another)

sickle-B- thalassaemia (HbS from one parent, B-thalassaemia from the other)

26
Q

describe some complications of sickle cell anaemia

A
  • anaemia
  • haemolytic/ aplastic crises
  • infection/ sepsis
  • vaso-occlusive crises
  • splenomegaly
  • priapism
27
Q

describe the long-term problems of sickle cell anaemia

A
  • Stroke - 1in10 have a stroke
  • Short stature + delayed puberty- Cardiomegaly/Heart Failure - from chronic anaemia
  • Psychosocial problems - due to time off school
  • Pigment gallstones
  • Renal dysfunction
28
Q

what is thalassaemia?

A

reduced globin chain synthesis

29
Q

what is beta thalassaemia?

A

defects in B-chains in adult HbA haemoglobin

autosomal recessive HBB gene on chromosome 11

resulting in excess of alpha chains

30
Q

how do RBC appear on a blood film in beta thalassaemia?

A

microcytic and hypochromic

31
Q

describe the presentation of minor (heterozygote/ carrier) beta thalassaemia?

A

asymptomatic

mild anaemia, low MCV

32
Q

describe the presentation of major beta thalassaemia?

A
  • progressive severe anaemia
  • jaundice
  • splenomegaly
  • failure to thrive
  • skeletal deformity
  • delayed puberty
  • death in early teens
33
Q

how is beta thalassaemia diagnosed?

A
  • MCH + MCV reduction
  • raised RBC
  • raised HBA2
  • skull x ray- hair-on-end sign
34
Q

how is beta thalassaemia differentiated from iron deficiency anaemia?

A

normal serum ferritin

35
Q

how is beta thalassaemia managed?

A
  • regular blood transfusions
  • iron chelation
  • bone marrow transplant
  • long term folic acid
36
Q

what is thrombocytopenia?

A

low platelet count

37
Q

what is ITP?

A

immune/idiopathic thrombocytopenic purpura

destruction of platelets by IgG autoantibodies

38
Q

when does ITP typically present?

A

young children post-viral infection

most present 2-10 years

recover spontaneously

39
Q

how does ITP present acutely?

A
  • petechiae on dependent extremities
  • purpura/ superficial bruising
  • epitaxis
40
Q

how does chronic ITP present?

A
  • platelet count remains low for a number of months

- associated bleeding- GI, nose, intracranial

41
Q

how is ITP diagnosed?

A

diagnosis of exclusion- only low platelets ! (allows you to differentiate from other conditions)

42
Q

how is ITP treated?

A

rare to need treatment

  • can give prednisolone
  • platelet transfusion if necessary
43
Q

what is Von Willebrand’s disease?

A

bleeding disorder caused by an abnormality of the VWF- a carrier protein for factor VIII

3 tyes- ranging in severity

44
Q

describe type 1 Von Willebrand’s disease

A

autosomal dominant

mild

45
Q

describe type 2 Von Willebrand’s disease

A

autosomal dominant

moderate

46
Q

describe type 3 Von Willebrand’s disease

A

autosomal recessive

severe

47
Q

clinical features of Von Willebrand’s disease

A

bruising

prolonged bleeding (e.g. after surgery)

mucosal bleeding

48
Q

what investigations would be performed in a patient with suspected Von Willebrand’s disease?

A
  • clotting screen abnormal
  • APTT increased
  • VFW and factor VIII decreased
49
Q

how is Von Willebrand’s disease treated?

A

Tranexamic acid

50
Q

what is the difference between Haemophilia A and B?

A

deficiency of factor VIII (haemophilia A)

factor IX deficiency= haemophilia B

51
Q

how does Haemophilia present in neonates?

A
  • Cephalohaematoma
  • iatrogenic bleeding
  • umbilical cord bleeding
52
Q

how does Haemophilia present in early childhood?

A
  • easy bruising
  • mouth bleeds
  • spontaneous joint/ muscle bleeds
53
Q

how are type A and B Haemophilia treated?

A

factor VIII/IX respectively

NP- Phase 3a Medicine (22 decks)

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