Haem - Paediatric haematology Flashcards

1
Q

What predisposes children to nutrient deficiency (and which)

A

Rapid growth and poor nutrient intake
Iron deficiency, folic acid deficiency

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2
Q

What complications could paediatric haematological disorders lead to

A

Growth retardation can occur with illness or due to its treatment (i.e. old ALL spinal irradiation treatment)
Pubertal failure / development of 2nd sexual characteristics from illness or treatment (e.g. b-thalassemia major treatment → iron overload )

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3
Q

What are the differences in neonatal blood value ranges compared to adults

A

Higher:
WCC
Neutrophils
Lymphocytes
Hb
MCV

+ higher HbF %

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4
Q

What are the causes of polycythaemia in the foetus

A

Twin-to-twin transfusion
Intrauterine hypoxia (foetus responds by increased EPO)
Placental insufficiency

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5
Q

What are the causes of anaemia in the foetus

A

Twin-to-twin or Foetal-to-maternal (rare) transfusion
Parvovirus infection B19 (virus not cleared by immature immune system)
Haemorrhage from cord or placenta

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6
Q

How are foetal RBC enzymes different to adults’ enzymes

A

~50% the G6PD concentration of an adult

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7
Q

What are the causes of haematological damage in the foetus

A

Irradiation
Damage by something crossing the placenta (e.g. drugs, chemicals, antibodies)
Anticoagulants (→ haemorrhage or foetal deformity (e.g. vitamin K if given in the first trimester))
Antibodies can destroy red cells, white cells or platelets
Substances in breast milk (e.g. G6PDD-baby may suffer from haemolysis if mother eats fava beans)

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8
Q

Describe the association between Down’s syndrome and leukaemia

A

Down’s syndrome is associated with congenital leukaemia (transient abnormal myelopoiesis)
○ This is different from leukaemia in older children (TAM is a myeloid leukaemia)
○ This disease tends to remit spontaneously within the first 2 months of life
○ However, it tends to relapse 1-2 years later in about 25% of infants
○ The capacity for spontaneous remission is similar to neuroblastoma

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9
Q

What are haemoglobinopathies

A

structurally abnormal Hb

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10
Q

Define thalassaemia

A

Group of genetic disorders characterised by a defect in and reduced globin chain synthesis

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11
Q

What are the differences in the timing globin chain synthesis

A

alpha globin synthesis begins early in foetal life
beta globin synthesis begins late in gestation

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12
Q

Describe the beta cluster in globin synthesis

A

Chromosome 11: beta, delta, gamma, epsilon (embyronic)
Deletion of the locus control region B (LCRB) → reduced globin expression

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13
Q

Describe the alpha cluster in globin synthesis

A

Chromosome 16: alpha 1, alpha 2, zeta (embryonic)
Deletion of locus control region A (LCRA) → reduced globin expression

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14
Q

Describe haemoglobin A and when it is present

A

𝛼2β2
Late foetus, infant, child, adult

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15
Q

Describe haemoglobin A2 and when it is present

A

𝛼2δ2
Infant, child, adult (<3.5%)

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16
Q

Describe haemoglobin F and when is it present

A

𝛼2γ2
Foetus and infant

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17
Q

Describe haemoglobin in utero

A

Specific foetal haemoglobins are present in the first 16 weeks → HbF predominates
After around 32 weeks you get a rapid increase in HbA production
At birth, about 1/3rd of haemoglobin is HbA, but this rapidly increases after birth
HbA2 production is much slower and starts from birth

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18
Q

What is the pathophysiology of sickle cell disease

A

Usually RBCs elongate to pass through the capillary beds to post-capillary venules
(1) Hypoxia → polymerisation of haemoglobin S → crescent shaped RBCs and blocked blood vessels (usually reversible when hypoxia is resolved)
(2) If circulation slows, the cells sickle and become rigid and adherent to the endothelium which causes obstruction
(3) Retrograde capillary obstruction → arterial obstruction

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19
Q

What are the types of sickle cell disease

A

ββS / AS: Sickle cell trait (not sickle cell disease)
βSβS / SS: Sickle cell anaemia
βC / SC: Sickle cell / haemoglobin C disease (Compound - Sickling slightly milder than HbSS)
βSβThal: Sickle cell / beta thalassaemia (Compound)

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20
Q

What does severity of compound sickle cell (βSβThal) depend on

A

whether it is a:
Beta-0 gene (no beta globin production)
Beta+ gene (a little bit of beta globin production)

21
Q

At what time does sickle cell anaemia and beta thalassaemia start to clinically manifest and why

A

3-6 months of life
Gamma chain production and HbF synthesis DECREASE
HbS , HbA production INCREASE

22
Q

What are the symptoms of sickle cell anaemia in children

A

Hand-foot syndrome (swelling) (red bone marrow extends into the digits)
Splenomegaly
Acute splenic sequestration
Acute chest syndrome
Painful crises (40%)
Stroke(4-8%)
Hyposplenism
Bacteraemia

23
Q

What are the types of bone marrow

A

Yellow BM is largely fat
Red BM produces haematopoietic precursors with developing RBCs and white cell and is vascular, metabolically active and requires an oxygen supply, so it is susceptible to infarction

24
Q

What is the difference between adult and child splenic complications of sickle cell anaemia

A

Adult / older-child spleen – spleen is small and fibrotic from recurrent infarction
Suffer from more chance of sequalae of hyposplenism (i.e. pneumococcal infection)

Child spleen – still has a functioning spleen
Children can undergo splenic sequestration which is the acute pooling of a large percentage of circulating red cells in the spleen → SEVERE ANAEMIA, SHOCK and DEATH

25
Q

What infections are children with sickle cell more susceptible to

A

Pneumococcus
Parvovirus B19 → aplastic naemia

26
Q

Why do children with sickle cell anaemia have increased folic acid demands

A

Hyperplastic erythropoiesis
Growth spurts
Red cell lifespan is shorted so anaemia can rapidly worsen

27
Q

What are the principles of sickle cell anaemia treatment

A

Establish a diagnosis (using a normal blood test in addition to the Guthrie test)
Educate parents + Parents should be taught how to palpate the spleen and to seek medical attention if needed
Vaccinate (pneumococcal)
Folic acid supplements
Daily penicillin prophylaxis
Blood transfusion required

28
Q

What are the types of beta thalassaemia

A

BthalB: beta thal trait
BthalBthal: beta thal major
BthalBthal: beta thal intermedia (some HbA due to + forms)

29
Q

What are the clinical features of poorly treated thalassaemia major

A

Anaemia → heart failure, growth retardation
Erythropoietic drive in the kidney (due to anaemia) → bone expansion, hepatomegaly, splenomegaly
Iron overload (regular blood transfusions) → heart failure, gonadal failure

30
Q

What are the principles of beta thalassaemia major treatment

A

Accurate diagnosis and family counselling
Regular Blood transfusion
± iron chelation due to risk of overload → desferrioxamine, deferiprone

31
Q

What are the causes of congenital haemolytic anaemia that are not inherited

A

Transplacental passage of maternal antibodies can cause haemolytic disease of the newborn (usually due to ABO and RhD antibodies)

32
Q

What are the causes of inherited haemolytic anaemia

A

Red cell membrane: hereditary spherocytosis/eliptocytosis
Haemoglobin molecule: sickle cell anaemia
Glycolytic pathway enzymes: pyruvate kinase deficiency (provide energy to cell)
Pentose-phosphate shunt: G6PD deficiency (protect cell from oxidant damage)

33
Q

What drives the anaemia in sickle cell anaemia

A

Haemolysis of sickled cells
HbS is low affinity → readily releases O2 to tissues → EPO drive is lower → reduced RBC production → Anaemia

34
Q

What are the clinical signs of increased red cell turnover

A

Jaundice
Splenomegaly
Increased unconjugated bilirubin

35
Q

What are the clinical signs of increased red cell production

A

Increased reticulocyte count
Bone expansion

36
Q

What are the signs of the following on blood smear: G6PD, hereditary spherocytosis, MAHA

A

G6PD - Bite cells, Heinz bodies, irregularly contracted cells

Hereditary spherocytosis - spherocytes

MAHA - schistocytes

37
Q

What are the triggers of haemolysis in G6PD deficiency

A

Infections (? UTI)
Drugs (? anti-emetic)
Naphthalene (moth balls)
Fava beans (broad beans)

38
Q

What are the types of immune haemolytic anaemias and what are their features

A

Autoimmune haemolytic anaemia
- Spherocytosis
- Positive DAT (Coombs’ test)

Haemolytic uraemic syndrome:
- Haemolysis
- Uraemia

39
Q

What is MAHA

A

Microangiopathic haemolytic anaemia (MAHA) is when the red cells are damaged in capillaries forming small angular fragments and micro-spherocytes (schistocytes)

40
Q

Give examples of inherited disorders of coagulation

A

Haemophilia A (F8)
Haemophilia B (F9)
Von Willebrand disease (platelets, F8)

41
Q

What are the clinical features of inherited disorders of coagulation

A

Bleeding following circumcision
Haemarthroses when starting to walk
Bruises
Post-traumatic bleeding

42
Q

What are some clues of an inherited defect of coagulation in children

A

Was there umbilical cord bleeding or bleeding when the Guthrie test was performed?
Was there haematoma formation after vitamin K injection or vaccinations?
Was there bleeding after circumcision?

43
Q

What is the difference in investigation results between haemophilia and VWD

A

VWD; bleeding time prolonged, FVIII low

Haemophilia (A): FVIII low, bleeding time normal

44
Q

What are the differentials for bruising and easy bleeding

A

HSP
Non-accidental injury
Coagulation factor defect
Inherited thrombocytopaenia
Acute leukaemia
ITP

45
Q

What is the presentation of ITP

A

Petechiae
Bruises
Blood blisters in the mouth

46
Q

What is the treatment for ITP

A

Observation (most common)
Corticosteroids
High dose IVIG
Anti-D (in RhD +ve with spleen)

47
Q

What is the most common leukaemia in children <1 years old and >1 years old

A

ALL is the MOST COMMON (200 cases a year)
Less than 1-year-old – AML is more common than ALL

48
Q

What is the management for hyposplenism

A

Appropriate vaccinations
Prophylactic penicillin
Advice to parents regarding other risks
Malaria
Dog bites