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a Paediatrics by themes > Haematology > Flashcards

Haematology Flashcards

1
Q

What are the common causes of iron deficiency anaemia in children?

A
  • Inadequate intake
  • Malabsorption
  • Blood loss
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2
Q

What are sources of iron for an infant?

A
  • Breastmilk - low content, but 50% is absorbed
  • Infant formula
  • Cow’s milk - high content, only 10% absorbed
  • Solids introduced at weaning (i.e. cereal)
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3
Q

What are the signs and symptoms of iron deficiency anaemia?

A
  • Asymptomatic until <60-70g/L
  • Feed slowly
  • Tire quickly
  • “Pica” = eating soil, dirt, etc.
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4
Q

What are the appropriate investigations for suspected anaemia?

A
  • Microcytic - low MCV
  • Hypochromic
  • Low ferritin
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5
Q

What is the management of iron deficiency anaemia?

A
  • Dietary advise → dark-green vegetables, meat, apricots, raisins
  • Oral ferrous sulphate, 200mg, TDS until normal Hb + at least 3/12 after
    • Monitoring
      • Re-check iron levels 2-4w after therapy start (at 3w, Hb should rise 2g/100mL)
      • If normal, check at 2-4m (if not, address compliance issues)
      • Advise black stools are a common and normal side effect → reduce by eating with food or reduced dose if appropriate
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6
Q

What are the causes of microcytic anaemia?

A

TAILS

  • Thalassaemia
  • Anaemia of Chronic Disease
  • Iron deficiency
  • Lead poisoning
  • Sideroblastic / Congenital
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7
Q

What are the causes of normocytic anaemia?

A

MR I CALM

  • Marrow failure
  • Renal failure
  • Iron deficiency - early on
  • Chronic disease
  • Aplastic or Acute blood loss
  • Leukaemia
  • Myelofibrosis
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8
Q

What are the causes of macrocytic anaemia?

A

AMHLF

  • Alcoholism
  • Myelodysplastic syndrome / Multiple myeloma
  • Hypothyroidism or Haemolytic
  • Liver failure
  • Folate / B12 deficiency
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9
Q

What are the signs and symptoms of sickle cell disease?

A
  • Hand and foot syndrome → swollen hands & feet; dactylitis
  • Acute chest syndrome (ACS)
  • Splenic sequestration → anaemia, shock, death
  • Painful crises / vaso-occlusive ± priapism
  • Infection (pneumococcus and parvovirus)
  • Splenomegaly (only in children)
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10
Q

What are the appropriate investigations for sickle cell disease?

A
  • Family origins questionnaire – Afrocaribean of African descent (some northern Europe)
  • Guthrie testing after antenatal screening
  • Solubility test - if cloudy → haemoglobin electrophoresis (gold-standard)
  • FBC and blood smear
    • Sickle cells
    • Howell-Jowell bodies (hyposplenism)
    • Nucleated RBCs
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11
Q

How does sickle cell disease cause anaemia?

A
  • Haemolysis
  • HbS is a low-affinity Hb → more readily releases O2 → reduced EPO-drive → anaemia
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12
Q

What is the management of sickle cell disease?

A
  • Education → minimise trigger exposure for crises (cold, dehydration, excessive exercise, hypoxia)
  • Vaccination → immunisation against encapsulated organisms (e.g. Pneumococcus / S. pneumoniae and HiB)
  • Prophylaxis
    • OD oral penicillin
    • OD oral folic acid (due to hyperplastic erythropoiesis, growth spurts, increased turnover)
  • Treatment of Chronic Problems:
    • Recurrent ACS or vaso-occlusive crisis = Hydroxycarbamide
      • Stimulated HbF production
      • Monitor for white blood cell suppression
    • HSCT (severe cases)
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13
Q

What are the common triggers for acute crises?

A
  • Cold
  • Dehydration
  • Excessive exercise
  • Hypoxia
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14
Q

What is the prognosis of sickle cell disease?

A
  • Premature death due to complications
  • 50% of patients with the most severe form of sickle cell disease will die <40 years
  • Aplastic anaemia from B19 infection
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15
Q

What are the signs and symptoms of beta thalassaemia major?

A
  • Extramedullary haematopoiesis
    • Bone expansion
    • Hepatosplenomegaly
    • Frontal bossing
  • Anaemia (3-6m of age)
    • Heart failure
    • Growth retardation
  • Iron overload - from transfusions
    • Heart failure
    • Gonadal failure
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16
Q

What are the signs and symptoms of beta thalassaemia minor?

A
  • Asymptomatic
  • Microcytosis with normal/low-normal haemoglobin
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17
Q

What are the appropriate investigations for suspected beta thalassaemia?

A
  • Family origins questionnaire – Indian, Mediterranean, Middle East
  • Guthrie testing after antenatal screening
  • Haemoglobin electrophoresis = gold-standard
  • Blood smear
    • Microcytic red cells
    • Tear drop cells
    • Microspherocytes
    • Target cells
    • Schistocytes
    • Nucleated RBCs
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18
Q

What is the management of thalassaemia?

A
  • Beta thalassaemia major
    • Blood transfusion ± iron chelation (desferrioxamine, deferiprone)
    • HSCT - only for children with an HLA-identical sibling
  • Beta thalassaemia minor = No treatment necessary
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19
Q

What is the management of an acute crises in sickle cell disease?

A
  • Analgesia - avoid morphine <12 years
  • O2
  • Hydration
  • Exchange transfusion - ACS, priapism, stroke
  • Antibiotics - if infection
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20
Q

What is G6PD?

A

Rate-limiting enzyme in the pentose-phosphate shunt which is vital to prevent oxidative damage to RBCs.

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21
Q

What are the risk factors for G6PDD?

A
  • Ethnicity = Central Africa, Mediterranean, Middle East, Far East
  • X-linked
    • Males
    • Homozygous females
    • ‘Lionised’ females → random X-chromosomes inactivated
22
Q

What are the signs and symptoms of G6PDD?

A
  • Neonatal jaundice - most common cause requiring transfusion
  • Acute intravascular haemolysis
    • Fever
    • Malaise
    • Abdominal pain
    • Dark urine
  • Asymptomatic outside of these events
23
Q

What are the causes of acute intravascular haemolysis in G6PDD?

A
  • Infection
  • Drugs
    • Antimalarials (i.e. quinine)
    • Analgesics (i.e. high-dose aspirin)
    • Antibiotics (i.e. nitrofurantoin)
  • Fava/broad beans
  • Mothballs/Insect repellent
24
Q

What are the appropriate investigations for suspected G6PDD?

A
  • Nothing abnormal between acute episodes
  • G6PD
    • Raised during an acute episode – higher enzyme concentration in reticulocytes
    • Reduced after the acute episode
    • Confirm via G6PD in acute setting and 1 month after
  • Blood film (acute) → Heinz bodies, bite cells
25
Q

What is the management of G6PDD?

A
  • Advice to be aware of signs of acute haemolysis → jaundice, pallor, dark urine
  • Avoidance of specific drugs, chemicals and foods
  • Acute haemolysis → supportive care + folic acid
    • Blood transfusion rarely required
26
Q

Define Haemolytic Disease of the Newborn.

A

Maternal antibodies against foetal blood group antigens.

  • Maternal antibodies cross placenta / mix at delivery → haemolysis
  • Mother must have been sensitised for this to happen → from secondary pregnancy onwards
27
Q

What are the signs and symptoms of haemolytic disease of the newborn?

A
  • Yellow amniotic fluid
  • Hydrops fetalis - hepatosplenocardiomegaly
  • Pallor
  • Jaundice 24-36 hours after birth (<2 days)
28
Q

What are the appropriate investigations for suspected haemolytic disease of the newborn?

A
  • Coombe’s test (DAT) +ve
  • Haemolysis = raised uBR and reticulocyte count
  • Amniocentesis
  • USS = organomegaly
29
Q

What is the management of haemolytic disease of the newborn?

A
  • Prevention
    • Prophylaxis after sensitising events <72hrs - Kleiheur test can determine need for more
      • 250 IU before 20 weeks
      • 500 IU after 20 weeks
    • Routine Antenatal Anti-D Prophylaxis (identified from antibody screen at 28 weeks
      • 2 doses of 500 IU at 28 and 34 weeks OR
      • 1 dose of 1500 IU at 28 weeks and Foetal cord gas post-delivery and prophylaxis → <72 hours (500 IU anti-D) if baby +ve Kleiheur
  • Treatment
    • Jaundice = Phototherapy and IVIG - if bilirubin is rising >8.5 umol/L/hr
    • Severe or in utero = Transfusion into umbilical vein → delivery 37-38w
30
Q

Define Idiopathic Thrombocytopaenic Purpura.

A

Immune destruction of platelets by IgG autoantibodies.

  • Same as Immune TP - new terminology
31
Q

What is the most common cause of thrombocytopaenia in children?

A

ITP - usually between 2-6yo

32
Q

What are the signs and symptoms of ITP?

A
  • Short history (days-weeks) of
    • Petechiae / Purpura
    • Superficial bruising
    • Epistaxis and other mucosal bleeding
  • Often presents much more acutely than in adults
  • Recent history (1-2 weeks) of a viral infection
  • Intracranial bleeding - rare → 0.1-0.5%
33
Q

What are the appropriate investigations for suspected ITP?

A
  • Diagnosis of exclusion → exclude genetic and leukaemia/cancer causes
    • FBC
    • Blood smear
    • Genetic analysis
34
Q

What is the management of ITP?

A
  • Asymptomatic or Minor Bleeding (plts >20 x109/L) = Self-limiting → observation
  • Major Bleeding (plts <20 x109/L) = IVIG + corticosteroids ± anti-RhD
    • Life-threatening haemorrhage = Platelet transfusion - raises platelets for a few hours
35
Q

What is the management of chronic ITP?

A

Platelets remain low 6/12 after diagnosis

  • 1st line
    • Mycophenolate mofetil
    • Rituximab
    • Eltrombopag (thrombopoietin agonist)
  • 2nd line
    • Splenectomy
36
Q

What is Haemophilia?

A
  • Deficiency of factors in the intrinsic pathway leading to APTT prolongation
    • Factor VIII = A
    • Factor IX = B
  • X-linked recessive - primarily affecting males
    • A: 1 in 10,000
    • B = 1 in 50,000
    • If a female is affected, it is likely they have Turner’s syndrome (only 1 X chromosome)
37
Q

What are the signs and symptoms of haemophilia?

A
  • Presenting around 1yo
    • Heamarthrosis → leading to arthritis
      • Present when walking begins and therefore so does falling over
    • Suspicions of NAI (if no FHx)
  • Presenting at neonatal age (40%):
    • Intracranial haemorrhage
    • Bleeding circumcision
    • Prolonged bleeding from venepuncture
38
Q

What are the appropriate investigations for suspected haemophilia?

A
  • Neonate history of bleeding from Vit-K injection, umbilical cord separation, circumcision
  • FHx
  • Clotting studies
    • Extrinsic = normal PT/INR
    • Intrinsic = prolonged APTT
  • Platelet count
  • Factor 8 levels
    • F8 is low in vWD - always consider vWD especially in girls
39
Q

What is the management of haemophilia?

A
  • Mild haemophilia A = Desmopressin - stimulates F8 and VWF release
  • Severe haemophilia = Prophylactic factor replacement
    • Can be done at home
    • Begins at 2-3yo, 2-3x/week
    • Raise baseline to above 2%
  • If actively bleeding
    • IV infusion of F8/9 concentrate
      • Minor bleeds = raise to 30% normal to treat minor/simple bleeds
      • Major bleeds = raise to 100%; maintain at 30% for 2/52 to prevent secondary haemorrhage
  • Avoid
    • IM injections
    • Aspirin
    • NSAIDs
40
Q

What are the complications of haemophilia?

A
  • Chronic arthropathy
  • Compartment syndrome
  • Haematuria
  • HBV → transfusion-related
41
Q

What is Gaucher’s disease?

A

The most common lysosomal storage disease → beta-glucosidase deficiency.

  • Pompe’s disease = Alpha glucosidase
  • Fabry disease = Alpha-galactosidase A defect
  • Niemann-Pick Disease type C = Cholesterol trafficking disorder
  • Wolman disease = Lysosomal acid lipase defect
42
Q

What inheritance patterns does Gaucher’s disease follow?

A
  • Autosomal recessive
    • Carrier rate of 1 in 100 → 1 in 40,000 births
      • 1 in 100 carrier rates → 2 carriers meeting and having a child = 0.01% chance
      • Child homozygous = 25% → 0.0025% chance (100/0.0025 = 1 in 40,000 affected)
  • Ashkenazi Jew carrier rate 1 in 10 → 1 in 500 births
43
Q

What diseases are more common in Ashkenazi Jews?

A
  • Gaucher’s disease
  • Tay-Sachs disease (hexosaminidase A deficiency)
    • S/S = deaf, blind, progressive neurodegeneration
  • Inflammatory bowel disease
44
Q

What are the signs and symptoms of Gaucher’s disease?

A
  • Acute infantile form
    • Hepatosplenomegaly
    • Neurological degeneration with seizures
  • Chronic childhood form (most common):
    • Hepatosplenomegaly
    • BM suppression → anaemia, immunodeficiency, clotting issues
45
Q

What are the appropriate investigations for Gaucher’s disease?

A
  • FBC
  • Blood film
  • LFTs and clotting
  • USS of liver and spleen
  • BM aspirate → Gaucher cells
46
Q

What is management of Gaucher’s disease?

A
  • Splenectomy
  • Bisphosphonates
  • Enzyme replacement - IV recombinant glucocerebrosidase
  • Anaemia treatment
47
Q

What is Galactosaemia?

A
  • Are 3 forms of galactosaemia → most common is Galactose-1-Phosphate Uridyl Transferase deficiency
48
Q

What are the signs and symptoms of galactosaemia?

A
  • Jaundice
  • Hepatomegaly
  • Hypoglycaemia
  • Sepsis - gal-1-phos inhibits the immune response
  • Not picked up in infancy → present in early life with bilateral cataracts
49
Q

What are the appropriate investigations for galactosaemia?

A
  • High galactose in urine
  • Red cell Gal-1-PUT
50
Q

What is the management of galactosaemia?

A

Avoid galactose

51
Q

What are Glycogen Storage Diseases?

A
  • Type 1 = von Gierke’s → glucose-6-phosphatase deficiency
    • Glucose can’t be liberated from glucose-6-phosphate so builds up inside cells as G6-phosphotase is used to remove the high-energy phosphate group so the glucose can leave the cell
  • Type 2 = Pompe’s → a-glucosidase deficiency
  • Type 3 = Cori’s / Forbe’s → amylo-1, 6-glucosidase deficiency
  • Type 4 = Anderson’s → 1, 4-a-glucan branching enzyme deficiency
  • Type 5 = McArdle’s → myophosphorylase deficiency
    • Muscle cramps / weakness after first few minutes of exercise → ‘second wind’ of energy
52
Q

What are the signs and symptoms of glycogen storage disease?

A
  • Hypoglycaemia → G6P cannot leave cells
  • Lactic acidosis → G6P builds up as lactate
  • Neutropenia → G6P supresses the immune system
  • Hepatomegaly
  • Nephromegaly

a Paediatrics by themes (26 decks)

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