Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Kat's Pathology > Paediatric Haematology > Flashcards

Paediatric Haematology Flashcards

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

Growth retardation may occur

Puberty delay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

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

A

50% higher in neonates than in adults

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Causes of polycythaemia in the foetus or neonate (3)

A

Twin-to-twin transfusion
Intrauterine hypoxia
Placental insufficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What condition is congenital leukaemia particularly common in

A

Down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Define haemoglobinopathy

A

Any inherited disorder of globin chain synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Thalassaemias

A

Reduced synthesis of globin chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Haemoglobinopathies

A

Synthesis of a structurally abnormal molecule

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How are HbA molecules structures

A

Quaternary structure of 2 alpha and 2 beta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

HbA

A

A2B2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

HbA2

A

A2D2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

HbF

A

A2G2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

When is HbA mostly present (4)

A

Late foetus
Infant
Child
Adult

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

When is HbA2 present (3)

A

Infant
Child
Adult

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

When is HbF present (2)

A

Foetus

Infant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the pathology is sickle cell disease

A

Hypoxia leads to sickling of the RBCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Sickle cell train Hb

A

BBs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Sickle cell anaemia

A

BsBs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Sickle cell/haemoglobin C disease

A

BsBc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Sickle cell/beta thalassaemia

A

BsBthal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

When does sickle cell anaemia manifest

A

Clinical features become manifest as gamma chain production and haemoglobin F synthesis decrease and Bs and HbS production increase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

When is sickle cell anaemia diagnosed

A

At birth

Guthrie spot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What are the benefits of neonatal diagnosis of sickle cell

A

Some of the complications can be prevented and others can be anticipated and their effects ameliorated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Why does sickle cell differ in infants/children than in adults (4)

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Vaso-occlusion in the first decade in sickle cell disease (4)

A

hand-foot syndrome
Acute chest syndrome
Painful crisis
Stroke

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What are the complications of splenic sequestration (3)

A

Severe anaemia
Shock
Possible death

34
Q

What is splenic sequestration

A

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
Q

Why doesn’t splenic sequestration occur in adults as it can in children with sickle cell disease

A

This doesn’t happen in older children and adults because recurrent infarction has left the spleen small and fibrotic

36
Q

What splenic risks are present in adults with sickle cell disease that do not occur in children

A

Hyposplenism

37
Q

What infection can be fatal in babies with sickle cell disease

A

Pneumococcal infection

38
Q

What virus is a risk in babies/children with sickle cell

A

Parvovirus B19 - their first exposure leads to pure red cell aplasia

39
Q

Why is folic acid more important in a child with sickle cell than in a normal child (3)

A

Hyperplastic erythropoiesis requires folic acid
Growth spurts require folic acid
Red cell life span is shorter so anaemia can rapidly worsen

40
Q

How is sickle cell anaemia/sickle cell disease managed in infants and children (4)

A

Accurate diagnosis
Educate parents
Vaccinate
Prescribe folic acid and penicillin

41
Q

Siblings with sickle cell anaemia present simultaneously with severe anaemia and a low reticulocyte count—likely diagnosis?

A

Parvovirus B19 infection

42
Q

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?

A

Sickle cell anaemia

43
Q

What is beta thalassaemia

A

A condition resulting from reduced synthesis of beta globin chain and therefore HbA

44
Q

At what age does beta thalassaemia manifest

A

It becomes apparent in the first 3-6 months of life

45
Q

When is beta thalassaemia diagnosed

A

At birth - guthrie spot

46
Q

What is the importance of beta thalassaemia trait

A

Harmless clinically, but genetically important

47
Q

Beta thalassaemia homozygosity clinical features

A

Anaemia which is fatal in the first few years of life if not transfused

48
Q

Beta thalassaemia trait

A

BthalB

49
Q

Beta thalassaemia homozygosity

A

BthalBthal

50
Q

Clinical effects of poorly treated thalassaemia major (3)

A

Anaemia - heart failure, growth retardation
Erythropoietic drive - bone expansion, hepatomegaly, splenomegaly
Iron overload - heart failure, gonadal failure

51
Q

How is beta thalassaemi major managed (infant/child) (4)

A

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
Q

Causes of haemolytic anaemia in children (3)

A

Inherited
Acquired
Haemolytic disease of the newborn

53
Q

What defects can cause inherited haemolytic anaemias (4)

A

Red cell membrane
Haemoglobin molecule
Red cell enzymes—glycolytic pathway
Red cell enzymes—pentose shunt

54
Q

Principles of haemolytic anaemia diagnosis in children (4)

A

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
Q

Red cell membrane defects (haemolytic anaemia) (2)

A

Hereditary spherocytosis

Hereditary elliptocytosis

56
Q

Hb defects (haemolytic anaemia)

A

Sickle cell anaemia

57
Q

Glycolytic pathway defects (haemolytic anaemia)

A

Pyruvate kinase deficiency

58
Q

Pentose shunt defects (haemolytic anaemia)

A

G6PD deficiency

59
Q

What can fava beans precipitate

A

G6PD deficiency episode

60
Q

What are the two important acquired haemolytic anaemias in children (2)

A

Autoimmune haemolytic anaemia

Haemolytic uraemic syndrome

61
Q

What is autoimmune haemolytic anaemia characterised by (2)

A

Spherocytosis

Positive direct antiglobulin test (Coombs test)

62
Q

What are the characterisitcs of haemolytic uraemic syndrome (2)

A

Haemolysis

Uraemia

63
Q

What type of haemolysis occurs in haemolytic uraemic syndrome

A

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
Q

Inherited defects of coagulation (3)

A

Haemophilia A
Haemophilia B
Von Willebrand Disease

65
Q

Clinical presentation of haemophilia A and B (4)

A

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

66
Q

Differential diagnosis for haemophilia A or B (4)

A

Inherited thrombocytopenia or platelet functional defect
Acquired defects of coagulation, e.g. autoimmune thrombocytopenic purpura, acute leukaemia
Non-accidental injury
Henoch‒Schönlein purpura

67
Q

How do you diagnose a coagulation disorder (5)

A 
History of child 
Family history (X-linked recessive)
Coagulation screen 
Platelet count 
Assays of specific coagulation factors
68
Q

Specific history for coagulation disorders in a child (3)

A

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
Q

Management of coagulation disorder in a child (5)

A 
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
Q

Von Willebrand disease clinical features (3)

A

Mucosal bleeding
Bruises
Post-traumatic bleeding

71
Q

Differential diagnosis of VWD

A

Haemophilia A

72
Q

Investigations for VWD (5)

A 
Family history (autosomal dominant)
Coagulation screen 
Factor VIII assay 
Bleeding time??
Platelet aggregation studies
73
Q

VWD treatment

A

Lower purity factor VIII concentrations

74
Q

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?

A

Haemophilia A

75
Q

Presentation of autoimmune thrombocytopenic purpura (3)

A

Petechiae
Bruises
Blood blisters in mouth

76
Q

Autoimmune TTP differentails (5)

A 
Henoch‒Schönlein purpura
Non-accidental injury
Coagulation factor defect 
Inherited thrombocytopenia
Acute leukaemia
77
Q

TTP diagnosis (3)

A

History
Blood count and film
Bone marrow aspirate (only if there is a very good reason)

78
Q

TTP treatment (4)

A

Observation
Corticosteroids
High dose intravenous immunoglobulin
Intravenous anti Rh D (if Rh-positive)

79
Q

Most common childhood leukaemia

A

ALL

AML more common below 1 year old

80
Q

Management of hyposplenism (3)

A

Appropriate vaccinations
Prophylactic penicillin
Advice to parents RE other risks (malaria, dog bites)

Kat's Pathology (105 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions