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Paediatric haematology Flashcards

1
Q

What is ferritin ?

A

Stored iron in cells

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2
Q

What does low ferritin suggest ?

A

Iron deficiency

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3
Q

What does high ferritin suggest ?

A
  • Inflammation
  • Ferritin is released from cells when there is inflammation such as with infection or cancer
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4
Q

What happens to the TIBC and transferrin levels in IDA?

A

Increased

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5
Q

How is IDA treated ?

A
  • Ferrous sulphate or ferrous fumarate
  • Blood transfusions if necessary
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6
Q

what causes Immune thrombocytopenic purpura ?

A
  • Type II hypersensitivity reaction
  • Antibodies are produced that destroy the platelets
  • Can occur spontaneously or as a result of a VIRAL INFECTION or vaccination
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7
Q

How does ITP present ?

A
  • Usually a history of a viral illness
  • Onset of symptoms is 24-48hrs
  • Bruising
  • Petechial or purpuric rash
  • Bleeding : gums, epistaxis or menorrhagia (less common)
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8
Q

Who does ITP usually effect ?

A

-Children <10

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9
Q

How is ITP diagnosed ?

A

-FBC for platelet count = isolated thrombocytopenia

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10
Q

Give 3 causes of low plts

A
  • ITP
  • Heparin induced thrombocytopenia
  • Leukaemia
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11
Q

How is ITP treated if patient is actively bleeding or if plt levels are severe (<10)

A
  • Usually resolves on own
  • Prednisolone
  • IV immunoglobulins
  • Platelet transfusion (if required)
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12
Q

Why would a plt transfusion for ITP only work temporarily ?

A

-The antibodies will destroy the transfused plts

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13
Q

What key education is given in ITP?

A
  • Avoid contact sports
  • Avoid IM injections
  • Avoid NSAIDs, aspirin and other blood thinning meds
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14
Q

Give 4 complications of ITP

A
  • Chronic ITP
  • Anaemia
  • Intracranial and SAH
  • Gastrointestinal bleeding
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15
Q

What is thalassaemia ?

A

-Autosomal recessive condition causing a genetic defect in the protein chains that make up Hb.

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16
Q

Give 8 potential signs and symptoms of thalassaemia

A
  • Microcytic anaemia
  • Fatigue
  • Pallor
  • Jaundice
  • Gallstones
  • Splenomegaly
  • Poor growth and development
  • Pronounced forehead and malar eminences
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17
Q

How is thalassaemia diagnosed ?

A
  • Pregnant screening test
  • FBC -> microcytic anaemia
  • Haemoglobin electrophoresis -> globin abnormalitis
  • DNA testing -> genetic abnormality
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18
Q

Why can thalassaemia cause iron overload?

A
  • Faulty creation of RBC
  • Recurrent transfusions
  • Increased iron absorption from the gut due to anaemia
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19
Q

Give 8 signs of iron overload

A
  • Fatigue
  • Liver cirrhosis
  • Infertility
  • Impotence
  • HF
  • Arthritis
  • DM
  • Osteoporosis and joint pain
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20
Q

How is potential iron overload monitored and then treated ?

A
  • Monitor serum ferritin
  • Treat with iron chelation (desferrioxamine) and limit transfusions
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21
Q

What chromosome is involved in alpha thalassaemia ?

A

-16
- 4 genes, 2 on each chromosome

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22
Q

How is alpha thalassaemia managed ?

A
  • Monitor FBC
  • Monitor for complications
  • Blood transfusions
  • Splenectomy can be performed
  • BM transplant can be curative
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23
Q

What chromosome is involved in beta thalassaemia and why is there 3 types ?

A

11
-Gene defect can either consist of abnormal copies that retian some function or deletion of genese where there is no function :

  • Thalassaemia minor
  • Thalassaemia intermedia
  • Thalassaemia major
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24
Q

What is thalassaemia minor ?

A
  • Carriers of abnormally functioning beta globin gene
  • 1 abnormal, one normal
  • Causes mild hypochromic microcytic anaemia and pts often only require monitoring and no active treatment
  • Raised HbA2
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25
Q

What is thalassaemia intermedia

A
  • 2 defective genese or one defective and one deletion gene
  • More significant anaemia
  • Need monitoring and occassional blood transfusions
  • May require iron chelation to prevent iron overload
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26
Q

What is thalassaemia major ?

A
  • Homozygous for the deletion gene
  • Severe : presents with severe anaemia and failure to thrive in early childhood
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27
Q

What are 3 complications of thalassaemia major ?

A
  • Severe microcytic anaemia
  • Hepatosplenomegaly in the 1st year of life
  • Bone deformities
  • Raised HbF and HbA2, absent HbA
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28
Q

What is sickle cell anaemia ?

A
  • Autosomal recessive condition causing crescent shaped RBC’s
  • They are more fragile and more easily destroyed = haemolytic anaemia
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29
Q

Explain the pathophysiology behind sickle cell anaemia

A
  • Pts have an abnormal Hb variant
  • It is an autosomal recessive condition where there is an abnormal gene for beta-globin on chromosome 11
  • One copy = sickle trait and usually asymptomatic (HbAS)
  • 2 copies = sickle cell disease (HbSS)
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30
Q

Why is having sickle cell trait a selective advantage in areas affected by malaria ?

A
  • It reduces the severity of malaria

- Makes them more likely to survive malaria and pass on their genes

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31
Q

How is sickle cell disease diagnosed

A
  • Newborn screening heel prick test at 5 days old
    or by Hb electrophoresis
  • Pregnant women at risk of being carriers are offered testing during pregnancy.
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32
Q

What is the general management of sickle cell anaemia ?

A
  • Avoid dehydration and other triggers
  • Keep vaccines up to date
  • Abx prophylaxis with penicillin V
  • Hydroxycarbamide to stimulate HbF production -> protective effect against sickle cell crisis and acute chest syndrome
  • Blood transfusion for severe anaemia
  • Stem cell transplant can be curative
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33
Q

Give 9 complications of sickle cell disease

A
  • Anaemia
  • Avascular necrosis of large joints
  • Pulmonary HTN
  • CKD
  • Sickle cell crisis
  • Acute chest syndrome
  • Increased risk of infection
  • Stroke
  • Priapism
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34
Q

Give 4 examples of a sickle cell crisis

A
  • Vaso-occlusive crisis (painful)
  • Splenic sequestration
  • Aplastic
  • Acute chest syndrome
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35
Q

What is a vaso-occlusive crisis

A
  • Precipitated by infection, dehydration or deoxygenation.
  • The sickle RBC’s clog capillaries and cause distal ischaemia
  • Presents with pain, fever and signs of triggering infection
  • Associated with dehydration and raised haematocrit
  • Can cause priapism in med which is treated with aspiration of blood from the penis
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36
Q

What is a splenic sequestration crisis ?

A
  • RBC’s block blood flow to the spleen = enlarged and painful spleen
  • Pooling of blood in the spleen can lead to severe and anaemia and circulatory collapse (hypovolaemic shock)
  • Mx : blood transfusion, fluid resus
  • Recurrent crises -> splenectomy as reccurrent crisis can lead to splenic infarct
  • Associated with raised reticulocyte count
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37
Q

What is an aplastic crisis ?

A
  • Temporary loss of creation of new blood cells
  • Usually triggered by parovovirus B19
  • Leads to severe anaemia and is managed with blood transfusion if necessary
  • BM supression -> raised reticuloytes
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38
Q

When is acute chest syndrome diagnosed ?

A

-Fever or resp symptoms with NEW INFILTRATES seen on CXR and low pO2

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39
Q

What causes acute chest syndrome ?

A
  • Infection (pneumonia, bronchiolitis)
  • Non-infective (pulmonary vaso-occlussion or fat emboli)
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40
Q

How is acute chest syndrome managed ?

A
  • Abx or antivirals for infection
  • Blood transfusions for anaemia
  • Incentive spirometry for breathing
  • Artifical ventilation with NIV or intubation if required
41
Q

What is haemophilia and its causative deficiencies

A
  • X linked recessive bleeding disorder
  • Haemophilia A : deficiency in factor VIII
  • Haemophilia B : deficiency in factor IX
42
Q

Explain the inheritance of haemophilia

A
  • X linked recessive
  • Almost exclusively affects males
43
Q

How does haemophilia present

A
  • Excessive bleeding in response to trauma or spontaneous haemorrhage
  • Usually in neonates or early childhood with intracranial haemorrhage, haematomas and cord bleeding
  • E.g. 11mnth -> bruising, painful and swollen joint but no fever
44
Q

Where can bleeding occur in haemophilia ?

A
  • Joints (haemathrosis) and muscles = severe
  • Gums
  • GI tract
  • Urinary tract -> haematuria
  • Retroperitoneal space
  • Intracranial
  • Following procedures
45
Q

How is haemophilia diagnosed ?

A
  • 1st line = clotting screen
  • Isolated raised APTT
46
Q

How is an acute episode of bleeding managed in haemophilia ?

A
  • Infusions of the factor
  • Desmopressin to stimulate VWF release
  • Antifibrinolytics such as tranexamic acid
47
Q

What is a complication of clotting factor IV infusions

A

-Abx can be made against the factors

48
Q

What is the most common inherited cause of abnormal bleeding ?

A

-Von Willebrand Disease

49
Q

What is the inheritance pattern of VWD?

A
  • Autosomal dominant
  • Involves deficiency, absence or malfunctioning VWF
  • 3 types, type 3 most severe (autosommal recessive)
50
Q

How does VWD present ?

A
  • Hx of unusually easy, prolonged or heavy breathing
  • Bleeding gums with brushing
  • Epistaxis
  • Menorrhagia
  • Heavy bleeding during surgical operations
  • Fx of heavy bleeding or VWD
51
Q

How is major trauma treated in VWD?

A
  • Desmopressin to stimulate release of VWD
  • VWF infusion
  • Factor VIII
52
Q

What are the 4 subunits of haemoglobin in the foetus (HbF)

A
  • 2 alpha subunits
  • 2 gamma subunits
53
Q

Explain the difference between adult and foetal haemoglobin, in terms of the oxygen dissociation curve

A
  • Fetal HbF has a greater affinity for oxygen that HbA
  • HbF binds to oxygen more easilty and is more reliuctan to let go
  • It sits further left on the oxygen dissociation curve
54
Q

When does HbF production being to decrease ?

A
  • From 32 to 36 weeks gestation
  • HbA is then produced in greater quantities
55
Q

What can be given to increase HbF production in patients with sickle cell anaemia ?

A

-Hydroxycarbamide

56
Q

What is the most common cause of anaemia in infancy ?

A

-Physiologic anaemia of infancy

57
Q

Give 4 other causes of anaemia in infancy?

A
  • Anaemia of prematurity
  • Blood loss
  • Haemolysis
  • Twin Twin transfusion -> blood is unequally distributed between twins that share a placenta
58
Q

Give 3 causes of haemolysis in neonates

A
  • Haemolytic disease of the newborn (ABO or rhesus incompatibility)
  • Hereditary spherocytosis
  • G6PD deficiency
59
Q

What is Physiologic Anaemia of Infancy and when does it occur ?

A
  • Six to nine weeks
  • High oxygen delivery to the tissues due to high HbF levels at birth leads to negative feedback
  • There is reduced erythropoietin produced by the kidneys leading to reduced HbF by the bone marrow
  • High oxygen = lower haemoglobin production
60
Q

Give 4 reasons why premature neonates become anaemic

A
  • Less time in utero receiving iron from the mother
  • RBC creation cannot keep up with rapid growth in the first few weeks
  • Reduced erythropoietin levels
  • Blood tests remove a significant portion of their circulating volume
61
Q

What is haemolytic disease of the newborn ?

A

-Incompatibility between rhesus antigens on the surface of RBC of the mother and fetus

62
Q

Explain the pathophysiology behind haemolytic disease of the newborn

A
  • In subsequent pregnancies, the mothers anti-D antibodies cross the placenta
  • If the fetus is resus positive, the Abx attack the RBC
  • This leads to haemolysis, anaemia and high bilirubin levels
63
Q

How is immune haemolytic anaemic diagnosed ?

A

Direct coombs test

64
Q

Give the 2 most common causes of anaemia in older children

A
  • IDA -> secondary to dietary insufficiency (most common cause overall)
  • Blood loss -> most commonly menstruation in older girls
65
Q

Give 6 rarer causes of anaemia in children

A
  • Sickle cell
  • Thalassaemia
  • Leukaemia
  • Hereditary spherocytosis
  • Hereditaty eliptocytosis
  • Sideroblastic anaemia
66
Q

What is a common cause of blood loss leading to IDA and chronic anaemia in developing countries ?

A

-Helminth infection : roundworms, hookworms or whipworms

67
Q

How is a Helminth infection treated ?

A

-Single dose of albendazole or mebendazole

68
Q

Give 5 causes of microcytic anaemia

A

-TAILS

T: Thalassaemia
A : Anaemia of chronic disease
I : Iron deficiency anaemia
L : Lead poisoning
S : Sideroblastic anaemia

69
Q

Give 5 causes of normocytic anaemia

A

-3A’s, 2H’s

A : acute blood loss
A : anaemia of chronic disease
A : aplastic anaemia
H : Haemolytic anaemia
H : hypothyroidism

70
Q

How can macrocytic anaemia be classified ?

A
  • Megaloblastic : impaired DNA synthesis preventing if dividing normally = continuous growth into a large, abnormal cell. Caused by a vitamin deficiency
  • Normoblastic
71
Q

Give 2 causes of megaloblastic macrocytic anaemia

A
  • B12 deficiency
  • Folate deficiency
72
Q

Give 5 causes of normoblastic macrocytic anaemia

A
  • Alcohol
  • Reticulocytosis (from haemolytic anaemia or blood loss)
  • Hypothyroidism
  • Liver disease
  • Drugs such as azathroprine
73
Q

Give 5 generic symptoms of anaemia

A
  • Tiredness
  • SOB
  • Headaches
  • Dizziness
  • Palpitations
74
Q

Give 2 symptoms specific to IDA

A
  • Pica -> dietary cravings for abnormal things such as dirt
  • Hair loss
75
Q

Give 4 general signs of anaemia

A
  • Pale sign
  • Conjunctival pallor
  • Tachycardia
  • Raised resp rate
76
Q

Give 4 specific signs of IDA

A
  • Koilonychia -> spoon shaped nails
  • Angular stomatitis
  • Atrophic glossitis
  • Brittle hair and nails
77
Q

Give 8 initial investigations for anaemia

A
  • FBC for Hb and MCV
  • Blood film
  • Reticulocyte count (high in anaemia due to haemolysis or blood loss)
  • Ferritin (low in IDA)
  • B12 and folate
  • Bilirubin (raised in haemolysis)
  • Direct coombs test (autoimmune haemolytic anaemia)
  • Haemoglobin electrophoresis (haemoglobinopathies)
78
Q

Give 3 causes of iron deficiency

A
  • Dietary insufficiency (most common in children)
  • Loss of iron -> heavy menstruation
  • Inadequate iron absorption (e.g. crohn’s)
79
Q

Where is iron absorbed and what is required ?

A
  • Duodenum and jejunum -> any conditions causing inflammation can cause inadequate absorption
  • Stomach acid to maintain is soluble ferrous (Fe2+) form. Medications such as PPI’s reduced stomach acid = ferric Fe3+ form = insoluble
80
Q

What is the total iron binding capacity ?

A

-Total space on the transferrin molecule for iron to bind

81
Q

What is the transferrin saturation ?

A

-Proportion of transferrin molecules that iron is bound to?

82
Q

How is the transferrin saturation calculated ?

A

Transferrin saturation = Serum Iron / Total Iron Binding Capacity

83
Q

What is hereditary spherocytosis and how is it inherited ?

A
  • RBC are sphere shaped = easily destroyed
  • Autosomal dominant, along woth hereditary elliptocytosis
84
Q

How does hereditary spherocytosis present?

A
  • Jaundice
  • Anaemia
  • Gallstones
  • Splenomegaly
85
Q

What infection can trigger an aplastic crisis in hereditary spherocytosis ?

A

-Parovirus

86
Q

What is an aplastic crisis

A

-Anaemia, haemolysis and jaundice is increased without the BM creating new RBCs

87
Q

How is hereditary spherocytosis diagnosed and anaged ?

A
  • Blood film : spherocytes, raised MCHC, raised reticulocytes
  • Manage : folate and splenectomy
88
Q

What is. theinheritance pattern of G6PD deficiency and how can a crisis be triggered ?

A
  • X linlked recessive
  • Infections, medications, fava (broad) beans
  • Exam presentation : jaundice following the triggers above
89
Q

Explain the pathophysiology behond G6PD deficiency

A
  • Deficiency in G6PD = cells more vulnerable to ROS = haemolysis of RBC
  • Period of increased stress = higher production of ROPS = acute haemolytic anaemia
90
Q

How does G6PD deficiency present ?

A
  • Neonatal jaundice
  • Anaemia, intermittent jaundice, gallstones, splenomegaly
91
Q

What is seen on investigations in G6PD deficiency

A
  • Heinz bodies on blood film
  • Diagnosed using G6PD enzyme assay
92
Q

what is the inheritance of fanconi anaemia

A

Autosommal recessive

93
Q

what are the 4 features of fanconi anemia

A
  • Haematological : Aplastic anaemia with increased risk of AML
  • Neurological
  • Skeletal abnormalities : short stature, thumb/radius abnormalities
  • Cafe au lait spots
94
Q

what is seen on blood results in leukaemia ?

A
  • Pancytopenia, combination of :
  • Anaemia : lethargy & pallor
  • Leukopenia : frequent / severe infections
  • Thrombocytopenia : easy bruising, petechiae
95
Q

Give 4 genetic syndromes that predispose to a higher risk of developing leukaemia

A

Down’s syndrome
Kleinfelter syndrome
Noonan syndrome
Fanconi’s anaemia

96
Q

what can be given to reduce the risk of tumour lysis syndrome secondary to chemo

A

Allopurinol

97
Q

what features suggest need for urgent FBC (within 48 hrs) in a person aged 0-24 to investigate leukaemia

A

Pallor
Persistent fatigue
Unexplained fever
Unexplained persistent infections
Generalised lymphadenopathy
Persistent or unexplained bone pain
Unexplained bruising
Unexplained bleeding

98
Q

Blood results seen in sickle cell patients

A

normocytic anaemia with raised reticulocyte count – due to haemolysis

99
Q
A

Finals (92 decks)

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