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Kat's Pathology > Paediatric Haematology > Flashcards

Paediatric Haematology Flashcards

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1
Q

What deficiencies are children prone to (2)

A

Iron deficiency is common in childhood and during adolescent growth spurts, particularly if the diet is sub-optimal
Folic acid deficiency can also occur as a consequence of increased needs

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2
Q

What may occur in children than does not occur in adults during illness (2)

A

Growth retardation may occur

Puberty delay

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3
Q

What is unusual about the Hb of a neonate

A

Higher percentage of haemoglobin F than at any other time of life, so disorders of beta globin genes are much less likely to manifest

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4
Q

How does the concentration of glucose-6-phosphate dehydrogenase differ in neonates and adults

A

50% higher in neonates than in adults

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5
Q

Causes of polycythaemia in the foetus or neonate (3)

A

Twin-to-twin transfusion
Intrauterine hypoxia
Placental insufficiency

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6
Q

Causes of anaemia in the foetus or neonate (4)

A

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

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7
Q

When does the first mutation that subsequently leads to childhood leukaemia occur

A

In utero

Pre-leukaemic cells carrying this mutation can even spread from one twin to another

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8
Q

Can leukaemia occur in utero

A

Yes

This specific type of neonatal leukaemia (also sometimes called transient abnormal myelopoiesis or TAM) differs greatly from leukaemia in older infants or children

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9
Q

What condition is congenital leukaemia particularly common in

A

Down’s syndrome

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10
Q

What are the key features of congenital leukaemia (3)

A

The leukaemia is myeloid with major involvement of the megakaryocyte lineage
The most remarkable feature is that it usually remits spontaneously and relapse one to two years later occurs in only about a quarter of infants
There are analogies with other childhood tumours, e.g. neuroblastoma

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11
Q

Define haemoglobinopathy

A

Any inherited disorder of globin chain synthesis

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12
Q

Thalassaemias

A

Reduced synthesis of globin chains

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13
Q

Haemoglobinopathies

A

Synthesis of a structurally abnormal molecule

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14
Q

How are HbA molecules structures

A

Quaternary structure of 2 alpha and 2 beta

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15
Q

HbA

A

A2B2

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16
Q

HbA2

A

A2D2

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17
Q

HbF

A

A2G2

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18
Q

When is HbA mostly present (4)

A

Late foetus
Infant
Child
Adult

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19
Q

When is HbA2 present (3)

A

Infant
Child
Adult

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20
Q

When is HbF present (2)

A

Foetus

Infant

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21
Q

What is sickle cell disease

A

Sickle cell disease is a generic term that describes homozygous and compound heterozygous states that are associated with the pathological effects of sickling
It includes sickle cell anaemia (SS) but also compound heterozygous states including SC and S/beta thalassaemia

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22
Q

What is the pathology is sickle cell disease

A

Hypoxia leads to sickling of the RBCs

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23
Q

How does vascular obstruction occur in sickle cell anaemia

A

RBC elongates to pass through capillary bed to post-capillary venule
Red cells become adherent to endothelium
More red cells become adherent to endothelium
Obstruction occurs
Sickle cells obstruct the venule and retrograde capillary obstruction occurs

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24
Q

Sickle cell train Hb

A

BBs

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25
Sickle cell anaemia
BsBs
26
Sickle cell/haemoglobin C disease
BsBc
27
Sickle cell/beta thalassaemia
BsBthal
28
When does sickle cell anaemia manifest
Clinical features become manifest as gamma chain production and haemoglobin F synthesis decrease and Bs and HbS production increase
29
When is sickle cell anaemia diagnosed
At birth | Guthrie spot
30
What are the benefits of neonatal diagnosis of sickle cell
Some of the complications can be prevented and others can be anticipated and their effects ameliorated
31
Why does sickle cell differ in infants/children than in adults (4)
The distribution of red bone marrow (susceptible to infarction) differs - the hand/foot syndrome The infant still has a functioning spleen - splenic sequestration can occur The infant has an immature immune system and has not developed immunity to pneumococcus or parvovirus The infant and child is growing rapidly and has a greater need for folic acid
32
Vaso-occlusion in the first decade in sickle cell disease (4)
hand-foot syndrome Acute chest syndrome Painful crisis Stroke
33
What are the complications of splenic sequestration (3)
Severe anaemia Shock Possible death
34
What is splenic sequestration
Splenic sequestration is the acute pooling of a large percentage of circulating red cells in the spleen The spleen enlarges acutely The Hb falls acutely and death can occur
35
Why doesn't splenic sequestration occur in adults as it can in children with sickle cell disease
This doesn’t happen in older children and adults because recurrent infarction has left the spleen small and fibrotic
36
What splenic risks are present in adults with sickle cell disease that do not occur in children
Hyposplenism
37
What infection can be fatal in babies with sickle cell disease
Pneumococcal infection
38
What virus is a risk in babies/children with sickle cell
Parvovirus B19 - their first exposure leads to pure red cell aplasia
39
Why is folic acid more important in a child with sickle cell than in a normal child (3)
Hyperplastic erythropoiesis requires folic acid Growth spurts require folic acid Red cell life span is shorter so anaemia can rapidly worsen
40
How is sickle cell anaemia/sickle cell disease managed in infants and children (4)
Accurate diagnosis Educate parents Vaccinate Prescribe folic acid and penicillin
41
Siblings with sickle cell anaemia present simultaneously with severe anaemia and a low reticulocyte count—likely diagnosis?
Parvovirus B19 infection
42
A 6-year-old Afro-Caribbean boy presents with chest and abdominal pain; Hb is 63 g/l, MCV 85 fl and blood film shows sickle cells—likely diagnosis?
Sickle cell anaemia
43
What is beta thalassaemia
A condition resulting from reduced synthesis of beta globin chain and therefore HbA
44
At what age does beta thalassaemia manifest
It becomes apparent in the first 3-6 months of life
45
When is beta thalassaemia diagnosed
At birth - guthrie spot
46
What is the importance of beta thalassaemia trait
Harmless clinically, but genetically important
47
Beta thalassaemia homozygosity clinical features
Anaemia which is fatal in the first few years of life if not transfused
48
Beta thalassaemia trait
BthalB
49
Beta thalassaemia homozygosity
BthalBthal
50
Clinical effects of poorly treated thalassaemia major (3)
Anaemia - heart failure, growth retardation Erythropoietic drive - bone expansion, hepatomegaly, splenomegaly Iron overload - heart failure, gonadal failure
51
How is beta thalassaemi major managed (infant/child) (4)
Accurate diagnosis and family counselling Blood transfusion Once iron overload starts to occur, chelation therapy (desferioxamine, deferiprone) Consideration of the child as an individual and as part of a family
52
Causes of haemolytic anaemia in children (3)
Inherited Acquired Haemolytic disease of the newborn
53
What defects can cause inherited haemolytic anaemias (4)
Red cell membrane Haemoglobin molecule Red cell enzymes—glycolytic pathway Red cell enzymes—pentose shunt
54
Principles of haemolytic anaemia diagnosis in children (4)
Is there anaemia? Is there evidence of increased red cell breakdown (jaundice, splenomegaly, increased unconjugated bilirubin) Is there evidence of increased red cell production (e.g. increased reticulocyte count, bone expansion) Are there abnormal red cells?
55
Red cell membrane defects (haemolytic anaemia) (2)
Hereditary spherocytosis | Hereditary elliptocytosis
56
Hb defects (haemolytic anaemia)
Sickle cell anaemia
57
Glycolytic pathway defects (haemolytic anaemia)
Pyruvate kinase deficiency
58
Pentose shunt defects (haemolytic anaemia)
G6PD deficiency
59
What can fava beans precipitate
G6PD deficiency episode
60
What are the two important acquired haemolytic anaemias in children (2)
Autoimmune haemolytic anaemia | Haemolytic uraemic syndrome
61
What is autoimmune haemolytic anaemia characterised by (2)
Spherocytosis | Positive direct antiglobulin test (Coombs test)
62
What are the characterisitcs of haemolytic uraemic syndrome (2)
Haemolysis | Uraemia
63
What type of haemolysis occurs in haemolytic uraemic syndrome
The haemolysis is what is called a microangiopathic haemolytic anaemia That means that the red cells are damaged in capillaries and are fragmented by the process Small angular fragments and microspherocytes are formed
64
Inherited defects of coagulation (3)
Haemophilia A Haemophilia B Von Willebrand Disease
65
Clinical presentation of haemophilia A and B (4)
Bleeding following circumcision Haemarthroses when starting to walk Bruises Post-traumatic bleeding
66
Differential diagnosis for haemophilia A or B (4)
Inherited thrombocytopenia or platelet functional defect Acquired defects of coagulation, e.g. autoimmune thrombocytopenic purpura, acute leukaemia Non-accidental injury Henoch‒Schönlein purpura
67
How do you diagnose a coagulation disorder (5)
``` History of child Family history (X-linked recessive) Coagulation screen Platelet count Assays of specific coagulation factors ```
68
Specific history for coagulation disorders in a child (3)
Was there umbilical cord bleeding or bleeding when a heel-prick was done for Guthrie spot? Was there haematoma formation after vitamin K injection of vaccinations? Was there bleeding after circumcision?
69
Management of coagulation disorder in a child (5)
``` Accurate diagnosis Counselling of family Treatment of bleeding episodes Use of prophylactic coagulation factors Consideration of the child as an individual and as a family member (home treatment, self-treatment, schooling) ```
70
Von Willebrand disease clinical features (3)
Mucosal bleeding Bruises Post-traumatic bleeding
71
Differential diagnosis of VWD
Haemophilia A
72
Investigations for VWD (5)
``` Family history (autosomal dominant) Coagulation screen Factor VIII assay Bleeding time?? Platelet aggregation studies ```
73
VWD treatment
Lower purity factor VIII concentrations
74
A 1-year-old boy presents with joint bleeding, Hb, WBC and platelet count are normal, aPTT is prolonged, PT is normal, bleeding time normal—most likely diagnosis?
Haemophilia A
75
Presentation of autoimmune thrombocytopenic purpura (3)
Petechiae Bruises Blood blisters in mouth
76
Autoimmune TTP differentails (5)
``` Henoch‒Schönlein purpura Non-accidental injury Coagulation factor defect Inherited thrombocytopenia Acute leukaemia ```
77
TTP diagnosis (3)
History Blood count and film Bone marrow aspirate (only if there is a very good reason)
78
TTP treatment (4)
Observation Corticosteroids High dose intravenous immunoglobulin Intravenous anti Rh D (if Rh-positive)
79
Most common childhood leukaemia
ALL AML more common below 1 year old
80
Management of hyposplenism (3)
Appropriate vaccinations Prophylactic penicillin Advice to parents RE other risks (malaria, dog bites)

Kat's Pathology (105 decks)

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