Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

YR5 Specialties > Paeds HAEM > Flashcards

Paeds HAEM Flashcards

(82 cards)

Start Studying
1
Q

In general, which haematological disorders are autosomal dominant vs recessive?

A

Dominant = generally structural disorders
Recessive = generally metabolic disorders

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

Which genetic abnormality predisposes women to haemophilia?

A

Turner’s syndrome

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

When is haemophilia most likely to present, and with what symptoms?

A

At ~ 1y, as this is when walking (+ therefore falling) begins
Haemarthrosis
Suspicions of NAI (if no FH)

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

How does haemophilia present if it presents at neonatal age?

A

Intracranial haemorrhage
Bleeding circumcision
Prolonged bleeding from venepuncture

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

Which measures of clotting time are normal vs prolonged in haemophilia?

A

PT normal
APTT prolonged
(PT is extrinsic, APTT is intrinsic)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

In girls, what is the top alternative differential for the same signs and symptoms as haemophilia?

A

vWD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How should mild haemophilia be managed?

A

Desmopressin: this stimulates f8 + vWF release

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How should severe haemophilia be managed?

A

Prophylactic factor replacement via Hickman line

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

How should minor bleeds be managed in haemophilia?

A

IV infusion of f8/9 concentrate: raise to 30% normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How should major bleeds be managed in haemophilia?

A

IV infusion of f8/9 concentrate: raise to 100%, then maintain at 30% for 2w

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

What is the other name for idiopathic thrombocytopaenic purpura?

A

Immune TP

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

In what age group is ITP seen?

A

2-6y

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

What is the most common cause of ITP?

A

Viral infection: ITP presents about 1-2w later

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

Recall the aetiology of ITP

A

Immune destruction of platelets by IgG autoantibodies
Directed against glycoprotein IIb/IIIa

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

Give 3 signs of ITP

A

Bruising
Petechial or purpuric rash
Bleeding less common- typically presents as epistaxis or gingival bleeding

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

How should ITP be investigated?

A

Diagnosis of exclusion: do an FBC + blood smear

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

How should ITP be managed?

A

In 80% of children it is acute, benign + self-limiting: will resolve spontaneously within 6-8w

Only treat if evidence of major bleeding or persistent minor bleeding

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

What advice should be given in ITP management?

A

Avoid contact sport
Avoid Aspirin + NSAIDs

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

How should major bleeding in ITP be managed?

A

IVIG
Corticosteroids: Red
Anti-RhD (if +ve)

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

What is second line management in ITP for major bleeding?

A

Rituximab
High dose dexamethasone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How should life-threatening haemorrhage be treated in ITP?

A

Platelet transfusion (temporary)
Splenectomy

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

When is ITP considered chronic?

A

after 6 months persistence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How should chronic ITP be managed?

A

Mycophenalate mofetil
Rituximab
Eltrombopag (thrombopoeitin agonist)
2nd line = splenectomy

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

Recall the symptoms of IDA In children

A

May be asymptomatic
Feeding slowly, tiring quickly, “pica” (eating soil, dirt, etc)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What iron supplement dose is appropriate for children?
Ferrous sulphate 200mg TDS
26
Upon which chromosome is the beta globin gene found?
Chromosome 11
27
When does HbA synthesis become predominant?
4-6m
28
What is the defect in sickle cell anaemia?
Defective beta globin chain Glutamine to valine on codon 6 on C11
29
What is the inheritance pattern of SCA?
Autosomal recessive
30
Recall the genotype that encodes for sickle cell trait?
BB^s
31
Recall the genotype that encodes for sickle cell anaemia?
B^s B^s
32
Recall the genotype that encodes for HbC disease
B^c B^s
33
What is beta thalassaemia?
Redcuced beta globin synthesis
34
What is the inheritance pattern of beta thalassaemia?
Autosomal recessive
35
What are the 3 phenotypes of alpha thalassaemia and genotypes?
4 alpha globin deletions = alpha thalassaemia major/ Hb Barts 3 alpha globin deletions = HbH disease 1/2 alpha globin deletions = alpha thalassaemia trait
36
What is the prognosis of each of the phenotypes of alpha thalassaemia?
Hb Barts = fatal in utero via hydrops fetalis HbH disease = mild/ mod anaemia Trait = asymptomatic with mild/ no anaemia
37
What is the gold standard diagnostic method for both SCD/ thalassaemia?
Electrophoresis
38
What is the most common early sign of SCD?
Hand + foot syndrome (swollen hands + feet + dactylitis)
39
What 2 infections are people with SCD particularly at risk of getting?
Pneumococcus + parvovirus
40
What symptom of SCD only presents in children (not adults)?
Splenomegaly
41
What screening test should be done in suspected SCD?
Solubility test
42
What is the gold standard diagnostic method for SCD?
Haemoglobin electrophoresis
43
What would a blood smear show in SCD?
Sickle cells, Howell-Jolly bodies, nucleated RBCs
44
What prophylactic medications should be given to people with SCD?
OD oral penicillin OD oral folic acid
45
Why is folic acid given in SCD?
Hyperplastic erythropoiesis, growth spurts, increased turnover
46
How should acute crises be treated in sickle cell disease?
Analgesia Hydration Abx O2 Exchange transfusion
47
How should the chronic problems of SCD be treated?
Hydroxycarbamide HSCT in severe cases
48
Recall the 3 key signs and symptoms of beta thalassaemia major
Extramedullary haematopoiesis Anaemia Iron overload
49
Recall 3 signs of extramedulllary haematopoiesis
Bone expansion Hepatosplenomegaly Frontal bossing
50
Recall the signs of beta thalassaemia trait
Microcytosis: otherwise asymptomatic
51
What would a blood smear show in thalassaemia?
Microcytic red cells Tear drop cellls Microspherocytes Target cells Schistocytes Nucleated RBCs
52
How should beta thalassaemia major be managed?
Blood transfusion +/-Iron chelation (desferrioxamine/ deferiprone)
53
Recall 4 signs and symptoms of HDN in the newborn?
Yellow amniotic fluid Pallor Jaundice 24-36 hours after birth Hydrops fetalis (hepatosplenocardiomegaly)
54
How can HDN be investigated?
Coombe's test pos Haemolysis --> raised uBR and reticulocytes Amniocentesis/ USS (shows organomegaly)
55
How can HDN be prevented?
Prophylaxis within 72h of a sensitising event Kleiheur test can determine need for more If before 20w: 250IU If after 20w: 500IU Routine antenatal anti-D prophylaxis is done if necessary, following antibody screen at 28w Prophylaxis = 2 doses of anti-D
56
How can HDN be treated?
Phototherapy (uBR) IV Ig (if BR is rising fast) If severe or in utero --> transfusion into umbilical vein
57
Which 6 inborn errors of metabolism are tested for at the newborn blood test screen?
PKU MCADD Glutaric Aciduria T1 Isovaleric acidaemia Homocysteinuria MSUD
58
What is the inheritance pattern of those inborn errors of metabolism?
Autosomal recessive
59
What is the deficiency in PKU?
Phenylalanine hydroxylase
60
Recall the typical appearance of a child with PKU
Blonde hair, blue eyes, eczema, microcephaly
61
What are the symptoms of PKU (unmanaged)?
Learning difficulties and seizures
62
How is PKU managed?
Low phenylalanine diet
63
Recall the signs and symptoms of MCADD
Encephalopathy within 1w + SIDS Hypoglycaemia and hypoketonuria
64
What investigation is done to diagnose MCADD?
Urinalysis: shows absent ketones and medium-chain dicarboxylic aciduria
65
What is G6PD's role?
Rate limiting enzyme in the pentose phosphate shunt
66
What is the inheritance pattern of G6PDD?
X - linked
67
What are the main signs and symptoms of G6PDD?
Neonatal jaundice Acute intravascular haemolysis (--> fever, malaise, abdo pain and dark urine)
68
What type of disease is Gaucher's disease?
Lysosomal storage disease
69
What is Gaucher's disease a deficiency of?
Beta-glucosidase
70
Which group of people are particularly at risk of getting Gaucher's?
Ashkenazi Jews
71
What are the 2 forms of Gaucher's disease, and their symptoms?
Acute infantile form: hepatosplenomegaly, neurological degeneration with seizures Chronic childhood form: hepatosplenomegaly and BM suppression (with anaemia)
72
Which form of Gaucher's disease is most common?
The chronic childhood form
73
What would be seen on BM aspirate in Gaucher's disease?
Gaucher cells
74
How is Gaucher's disease managed?
Splenectomy, bisphosphonates (because of BM suppresion), enzyme replacement, treat anaemia
75
What is the most common form of galactosaemia?
Gal-1-PUT deficiency
76
Recall the signs and symptoms of galactosaemia
High cBR Hepatomegaly Hypoglycaemia Sepsis (gal-1-phos inhibits the immune response)
77
How does galactosaemia present if not picked up in infancy?
BL cataracts
78
How is galactosaemia managed?
Avoidance of galactose
79
How many types of glycogen storage disease are there?
5
80
What symptoms are specific to McArdle's GSD?
Muscle cramps/ weakness after first few mins of exercise, followed by a second 'wind' of energy
81
Recall the symptoms of GSD with the reason behind each one
Hypoglycaemia (G6P cannot leave cells) Lactic acidosis (G6P builds up as lactate) Neutropaenia (G6P suppresses the immune system)
82
How should glycogen storage disease be managed?
Manage intake of CHO carefully to avoid storage

YR5 Specialties (27 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions