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Phase 3a conditions list flashcards > Paediatrics - haematology > Flashcards

Paediatrics - haematology Flashcards

1
Q

What are the types of haemoglobin present in a healthy adult (2)?

A
  • HbA
  • HbA2 (low levels)
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2
Q

What is HbA made up of?

A

2 alpha, 2 beta chains

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3
Q

What is HbA2 made up of?

A

2 alpha, 2 delta chains

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4
Q

What is the main Hb present in a foetus?

A

HbF

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5
Q

What is HbF made up of?

A

2 alpha, 2 gamma chains

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6
Q

What is the main difference between HbF and HbA in terms of its function?

A

HbF has a higher affinity to oxygen due to the relatively hypoxic environment of the foetus

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7
Q

What age does HbF usually disappear by?

A

1 year of age

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8
Q

What happens to the levels of haemoglobin from birth throughout childhood?

A

Hb at birth is high to compensate for the hypoxic foetal environment (140+), Hb decreases over the first few months/ year of life due to transition to adult Hb (shouldn’t go below 100), Hb increases from that point on up to 130/120

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9
Q

What are 3 categories for the causes of anaemia?

A
  • Haemolysis
  • Impaired red blood cell production
  • Blood loss
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10
Q

What are the two categories of impaired red cell production in children?

A
  • Red cell aplasia (no RBC production)
  • Ineffective erythropoiesis
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11
Q

What causes red cell aplasia (3)?

A
  • Fanconi anaemia
  • Parvovirus B19 infection (only in children already with inherited haemolytic anaemias)
  • Congenital red cell aplasia
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12
Q

What causes haemolytic anaemia in children (6)?

A
  • Haemaglobinopathies (sickle cell, thalassaemia)
  • Hereditary spherocytosis/ eliptocytosis
  • G6PD deficiency
  • Auto/ allo immune haemolytic
  • Infections e.g. malaria
  • Mechanical e.g. HUS, TTP (due to turbulent blood flow damaging RBCs)
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13
Q

What are some general features of anaemia in children (4)?

A
  • Failure to thrive
  • Pallor
  • Fatigue
  • Tachycardia/ tachypnoea
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14
Q

What would haemolytic anaemias cause an increase of in the blood?

A

Bilirubin

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15
Q

What are some features of haemolytic anaemias (3)?

A
  • Jaundice
  • Splenomegaly
  • Gallstones (due to increased bilirubin excretion)
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16
Q

What causes microcytic anaemia in children (5)?

A
  • Thalassaemia
  • Anaemia of chronic disease
  • Iron deficiency
  • Lead poisoning
  • Sideroblastic
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17
Q

What causes normocytic anaemia (5)?

A
  • Aplastic anaemia
  • Anaemia of chronic disease
  • Acute blood loss
  • Haemolytic anaemia
  • Hypothyroidism
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18
Q

What are the two categories of macrocytic anaemia?

A
  • Normoblastic
  • Megaloblastic
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19
Q

What causes normoblastic macrocytic anaemia (3)?

A
  • Alcohol
  • Hypothyroidism
  • Liver disease
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20
Q

What causes megaloblastic mactrocytic anaemia (2)?

A
  • B12 deficiency
  • Folate deficiency
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21
Q

What is the most common cause of anaemia in children?

A

IDA

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22
Q

What causes IDA in children (3)?

A
  • Poor intake (not breast fed?)
  • Malabsorption
  • Blood loss (e.g. ringworm in developing countries)
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23
Q

What is a specific symptom of IDA in children?

A

PICA (eating non food items)

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24
Q

What is fanconi anaemia?

A

Inherited impaired response to DNA damage in the bone marrow

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25
Q

How is fanconi syndrome inherited?

A

Autosomal recessive

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26
Q

What is a complication of fanconi syndrome?

A

Cancer (esp. AML)

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27
Q

How is hereditary spherocytosis inherited?

A

Autosomal dominant

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28
Q

What is the pathophysiology of hereditary spherocytosis?

A

Mutations in the proteins coding for RBC membrane e.g. spectrin

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29
Q

Why does hereditary spherocytosis cause haemolysis?

A

Spherical shape of RBCs –> destruction in the spleen

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30
Q

What is a complication of hereditary spherocytosis?

A

Aplastic crisis caused by parvovirus infection

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31
Q

How is hereditary spheocytosis managed (2)?

A
  • Folic acid supplements (due to higher RBC production)
  • Splenectomy after age 7
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32
Q

How is hereditary spherocytosis diagnosed?

A

Blood film (direct Coombs test can exclude AHA)

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33
Q

How does G6PDD cause haemolysis?

A

Allows ROS to damage and break down RBCs

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34
Q

What can precipitate anaemia in those with G6PDD (2)?

A
  • Certain medications
  • Fava (broad) beans
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35
Q

What is sickle cell disease and how is it inherited?

A

Autosomal recessive condition caused by a mutation in the beta chain on Hb, causing 2 alpha and two mutated beta chains = HbS

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36
Q

How is sickle cell often diagnosed?

A

In the newborn spot blood test

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37
Q

How does sickle cell disease cause anaemia?

A

RBCs become sickle shaped especially when stressed –> stuck in blood vessels –> haemolysis

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38
Q

What are some complications of sickle cell disease (6)?

A
  • Sickle cell crises
  • Increased infection risk
  • Gallstones
  • Avascular necrosis
  • Stroke
  • Priapism (painful erection)
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39
Q

What are the types of sickle cell crises (4)?

A
  • Vaso-occlusive crisis
  • Splenic sequestration crisis
  • Aplastic crisis
  • Acute chest syndrome
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40
Q

What are the symptoms of a Vaso-occlusive crisis in sickle cell disease (2)?

A

Swollen + painful hand/ foot (or whichever body part is affected)
can be associated with fever

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41
Q

What is splenic sequestration crisis?

A

RBCs block blood flow in the spleen

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42
Q

What are the signs/ symptoms of splenic sequestration?

A
  • Enlarged painful spleen
  • Severe anaemia
  • Hypovolaemia (due to blood pooling)
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43
Q

What causes aplastic anaemia in those with sickle cell?

A

Parvovirus B19

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44
Q

What is acute chest syndrome?

A

Vessels supplying lungs become clogged with RBCs

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45
Q

What are the signs/ symptoms of acute chest syndrome?

A
  • Fever
  • SOB
  • Chest pain
  • Cough
  • Hypoxia
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46
Q

How are sickle cell crises managed?

A

Supportive management, no specific treatments
analgesia + oxygen usually - can give Abx/ fluids

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47
Q

How is sickle cell disease managed with medications (2)?

A
  • Hydroxycarbamide (increases production of HbF)
  • Crizanlizumab (monoclonal antibody against p-selectin, prevents RBCs from sticking to walls)
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48
Q

What is given as prophylaxis for those with sickle cell?

A

Penicillin V (stop infections)

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49
Q

Other than pharmacologically, how else is sickle cell managed (4)?

A
  • Blood transfusions
  • Vaccinations
  • Avoid crises (e.g. prevent dehydration)
  • Bone marrow transplant (potentially curative)
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50
Q

How is Thalassaemia inherited?

A

Autosomal recessive

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51
Q

What is thalassaemia?

A

Defects in either the alpha or beta Hb chains

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52
Q

What are the different types of alpha thalassaemia?

A

Ranging in severity from 1 to 4

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53
Q

How does alpha thalassameia compensate for defective Hb?

A

Produces more HbH (4 beta chains)

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54
Q

What are the different types of beta thalassaemia (3)?

A
  • Thalassaemia minor (1 deleted/ abnormal beta gene)
  • Thalassaemia intermedia (2 abnormal/ 1 abnormal 1 deleted beta gene)
  • Thalassaemia major (2 deleted beta genes)
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55
Q

What are the signs/ symptoms of thalassaemia?

A
  • Pronounced forehead + malar eminences (chipmunk facies - due to growth of bone marrow)
  • Hepatosplenomegally
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56
Q

When is thalassaemia screened for in the UK?

A

Pregnancy (upon booking appointment)

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57
Q

How is thalassaemia managed (3)?

A
  • Transfusions
  • Bone marrow transplant
  • Splenectomy
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58
Q

What is a complication of frequent blood transfusions?

A

Iron overload

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59
Q

How is iron overload treated?

A

Iron chelation

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60
Q

What age do haemaglobinopathies tend to present?

A

6 months - 2 years (once HbF decreases in prevalence)

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61
Q

What causes anaemia in the newborn (6)?

A
  • Blood loss
  • Anaemia of prematurity
  • Haemolytic anaemias
  • Reduced red cell production
  • Twin-twin transfusion (unequal distribution of blood between twins that share a placenta)
  • Normal physiological dip in Hb
62
Q

What are some signs/ symptoms of anaemia in newborns (2)?

A
  • Pallor
  • Poor feeding
63
Q

What are the two main causes of reduced red blood cell production?

A
  • Congenital parvovirus B19 infection
  • Congenital red cell aplasia (Diamond-blackfan anaemia)
    both quite rare
64
Q

What would the bloods look like for those with reduced blood cell production (3)?

A
  • Low Hb
  • Low reticulocytes
  • Normal bilirubin
65
Q

What are the main causes of blood loss in a newborn (4)?

A
  • Foeto-maternal haemorrhage (blood loss into mother)
  • Blood loss around time of delivery (e.g. placental abruption)
  • Recurrent blood sampling
  • Haemorrhagic disease of the newborn
66
Q

What causes haemorrhagic disease of the newborn?

A

Low vitamin K (most babies are born low in vitamin K)
IM vitamin K can be given

67
Q

What would blood tests show on newborns with anaemia due to blood loss (3)?

A
  • Low Hb
  • High reticulocytes
  • Normal bilirubin
68
Q

What are the causes of anaemia of prematurity (3)?

A
  • Less time receiving iron in-utero
  • Reduced EPO levels (due to negative feedback)
  • Frequent blood sampling
69
Q

What causes haemolytic anaemias in newborns (3)?

A
  • Haemolytic disease of the newborn
  • Hereditary spherocytosis
  • G6PD deficiency
70
Q

What is a sign of haemolytic anaemias in newborns?

A

Jaundice

71
Q

What is haemolytic disease of the newborn?

A

Blood group incompatibility between the foetus and mother leading to maternal antibodies that cross the placenta and attack the foetal RBCs

72
Q

What is the most common cause of haemolytic diseases of the newborn?

A

Rhesus D incompatibility

73
Q

What must the blood group of the mother and the foetus be for HDN to occur?

A
  • Mother = rhesus-D negative
  • Foetus = rhesus-D positive
74
Q

What must happen before a foetus would be able to develop HDN?

A

A sensitisation event must have occurred in the mother

75
Q

What are some possible sensitisation events that may expose a mother to RhD antigens (3)?

A
  • Blood transfusions
  • Miscarriage
  • Previous pregnancy
76
Q

Which immunoglobulin is responsible for HDN and can cross the placenta?

A

IgG

77
Q

What gestational age does a sensitisation event become possible after a miscarriage?

A

12 weeks

78
Q

How is haemolytic disease of the newborn prevented?

A

Anti-D antibodies are given to the mother if she has been exposed to a possible sensitisation event

79
Q

How is HDN managed during pregnancy (2)?

A
  • Plasmapheresis - to remove the Igs responsible
  • Intrauterine transfusion
80
Q

How is HDN managed once the foetus has been delivered (2)?

A
  • Exchange transfusions
  • Phototherapy (brevet bilirubin buildup)
81
Q

How is HDN diagnosed?

A

Direct Coombs test (tests for antibodies attached to RBCs)

82
Q

What is a complication of anaemia in a foetus?

A

Hydrops foetalis - fluid accumulation in multiple areas due to the heart having to pump harder

83
Q

What are some bleeding disorders that are common in children (3)?

A
  • Haemophilias
  • Von Willebrands disease
  • Acquired disorders of coagulation
84
Q

What are the types of acquired coagulation disorders in children (5)?

A
  • Haemorrhagic disease of the newborn (vit K deficiency)
  • Disseminated intravascular coagulation
  • Immune Thrombocytopenic Purpura
  • Thrombotic Thrombocytopenic Purpura
  • HUS
85
Q

What clotting factors is vitamin K involved with producing?

A

10,9,7,2

86
Q

How is haemophilia inherited?

A

X-linked recessive

87
Q

What are the two types of haemophilia?

A

A and B

88
Q

What clotting factors are affected in haemophilia?

A
  • A = factor VIII
  • B = factor IX
89
Q

When does haemophilia typically present?

A

Towards the end of the first year of life (when they start to walk) or during the neonatal period

90
Q

How might haemophilia present in the neonatal period (2)?

A
  • Intracranial haemorrhage
  • Bleeding (post circumcision, blood tests or heel prick test)
91
Q

What are the signs/ symptoms of haemophilia in children (3)?

A

BLEEDING
* Haematoma
* Epistaxis
* Bleeding (in or out of body)

92
Q

Where is a common site for children with haemophilia to bleed into?

A

Joints –> severe arthritis

93
Q

What can bleeding into muscles cause?

A

Compartment syndrome

94
Q

How is haemophilia diagnosed (3)?

A
  • Blood coagulation times/ tests
  • Clotting factor assays
  • Genetic testing
95
Q

Which blood coagulation time is increased in haemophilia?

A

aPTT

96
Q

How is haemophilia managed?

A

Factor 8/ 9 can be given

97
Q

Why does the treatment of haemophilia with recombinant factor 8/9 stop working over time?

A

Formation of antibodies agains factor 8/9 (town as inhibitors) destroy the factors

98
Q

What treatment can sometimes be given to those with mild haemophilia A?

A

Desmopressin (stimulates factor VIII and vWF)

99
Q

What is von Willebrand disease?

A

Reduced function/ deficiency of vWF of varying severities

100
Q

What is the function of vWF (2)?

A
  • Facilitates platelet adhesion to endothelium
  • Acts as carrier protein for factor 8
101
Q

How are most cases of vWD inherited?

A

Autosomal dominant

102
Q

What age is vWD usually diagnosed?

A

Varies depending on the severity between birth and adulthood

103
Q

What are the signs/ symptoms of vWD (2)?

A
  • Bruising (spontaneous bleeding like seen in haemophilia is rare)
  • Easy bleeding
104
Q

How is vWD managed (4)?

A
  • Daily management not usually necessary
  • Desmopressin
  • Transexamic acid
  • vWF + factor VIII
105
Q

What is important to consider in younger children with thrombocytopenia?

A

Inherited/ congenital cause

106
Q

What is the most common cause of thrombocytopenia in children?

A

Immune thrombocytopenia purpura

107
Q

What is immune thrombocytopenia purpura?

A

Autoimmune destruction of platelets (type 2 hypersensitivity)

108
Q

What are the signs/ symptoms of ITP (3)?

A
  • Non blanching purpuric rash
  • Bleeding
  • Bruising
    no thrombotic features
109
Q

What age does ITP usually present?

A

2-10 years

110
Q

What often precedes ITP?

A

Viral infection 1-2 weeks ago

111
Q

How is ITP diagnosed?

A

Diagnosis of exclusion

112
Q

What is the prognosis for ITP?

A

Most cases (70%) remit spontaneously without treatment within 3 months

113
Q

How is ITP managed?

A
  • Steroids (prednisolone)
  • IVIgs
  • Platelet transfusions (for life threatening bleeding)
114
Q

What should be investigated in children with ITP before beginning them on steroids?

A

Bone marrow biopsy to rule out malignant causes of thrombocytopenia

115
Q

What should children be advised to avoid doing who have ITP (2)?

A
  • Avoid contact sports
  • Avoid NSAIDs/ blood thinners
116
Q

What are some complications of ITP (2)?

A
  • Chronic ITP
  • Intracranial/ GI bleed
117
Q

What is disseminated intravascular coagulopathy?

A

Coagulation pathway activation leading to micro thrombi formation and consumption of coagulation factors and platelets

118
Q

What is the main cause of DIC?

A

Severe infection (sepsis)

119
Q

How is DIC diagnosed?

A

No specific test, just blood results that indicate DIC

120
Q

How is DIC managed (2)?

A
  • Treat underlying cause (usually infection)
  • Supportive care (fresh frozen plasma)
121
Q

What is thrombotic thrombocytopenia purpura?

A

Formation of microthrombi thought the body leading to depletion of platelets
similar to DIC but with a different underlying cause

122
Q

What is the underlying cause of TTP?

A

Deficiency in ADAMTS13 enzyme (this prevents blood clots forming)

123
Q

How is TTP managed (2)?

A
  • Plasma exchange
  • Steroids
124
Q

How is HUS different to TTP?

A

HUS usually proceeds a gastroenteritis infection and the microthrombi are caused by the shiga toxin

125
Q

What thrombocytopenias would a prolonged clotting time (PT/aPTT) be expected in?

A

DIC
the others do not use up clotting factors

126
Q

What thrombocytopenias would schistocytes be expected in?

A

DIC, TTP, HUS
not ITP as thrombi do not form therefore RBCs are not damaged

127
Q

What is the difference between bleeding time and clotting time?

A
  • Bleeding time is dependant on clotting factors and function/number of platelets
  • Clotting time is dependant only on the clotting factors
128
Q

What are thrombophilias?

A

Conditions that predispose patients to having blood clots

129
Q

What thrombophilias are most common in children ()?

A
  • Factor V leiden
  • Protein C/S deficiency
  • Prothrombin gene mutation
130
Q

What is factor 5 Leiden?

A

Clotting factor 5 is resistant to inactivation by protein C

131
Q

What do protein C and S do?

A

Inactivate various clotting factors

132
Q

How are most thrombophilias inherited?

A

Autosomal dominant

133
Q

What thrombophilia occurs more often in adults and often presents with multiple miscarriages?

A

Antiphospholipid syndrome

134
Q

What are the most common vasculitis in children?

A
  • Henoch-Schonlein purpura
  • Kawasaki disease
  • Takayasu arteritis
135
Q

What is henoch schonlein purpura?

A

Small vessel IgA vasculitis associated with IgA immune complex deposition

136
Q

What age does Henoch schonlein purpura usually affect?

A

Under 10

137
Q

What are the signs/ symptoms of Henoch schonlein purpura (4)?

A
  • Purpura
  • Joint pain
  • Abdo pain (bowel involvement)
  • Renal involvement
138
Q

How is Henoch schonlein purpura managed (2)?

A
  • Supportive care
  • Steroids (effectiveness debated - started by specialist)
139
Q

What is important to monitor in HSP (2)?

A
  • Urine dip (for renal involvement)
  • BP (for hypertension)
140
Q

What is Kawasaki disease?

A

Medium vessel vasculitis with an unknown cause

141
Q

What often precedes Kawasaki disease?

A

Infections

142
Q

What are the signs/ symptoms of Kawasaki disease (7)?

A
  • Persistently high fever > 5 days
  • Widespread erythematous maculopapular rash
  • Desquamation (peeling of skin) on hands and feet
  • Bilateral conjunctivitis
  • Strawberry tongue
  • Cracked lips
  • Cervical lymphadenopathy
143
Q

What age is typically affected by Kawasaki disease?

A

Under 5 years

144
Q

What is the course of the disease (3)?

A
  • Acute phase: 1-2 weeks - systemically unwell
  • Subacute phase: 2-4 weeks symptoms begin to settle - risk of coronary artery aneurysms
  • Convalescent stage: 2-4 weeks - symptoms + aneurysms improve
145
Q

What is a significant complication of Kawasaki disease?

A

Coronary artery aneurysm

146
Q

How is Kawasaki disease investigated (3)?

A
  • FBC, LFT, CRP
  • Urinalysis
  • Echo (for coronary aneurysms)
147
Q

How is Kawasaki disease managed (2)?

A
  • High dose aspirin
  • IV Igs
148
Q

What is aspirin not usually given to children?

A

Reyes syndrome

149
Q

What is reyes syndrome?

A

Very rare, rapidly worsening brain + liver disease in children given aspirin

150
Q

What is takayasu arteritis?

A

Rare disease causing inflammation of the aorta and its branches

151
Q

What are the symptoms of takayasu arteritis?

A

Symptoms of reduced blood supply to the arms

Phase 3a conditions list flashcards (29 decks)

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