Paeds HAEM

Question 1

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

Answer 1

Dominant = generally structural disorders
Recessive = generally metabolic disorders

Question 2

Which genetic abnormality predisposes women to haemophilia?

Answer 2

Turner’s syndrome

Question 3

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

Answer 3

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

Question 4

How does haemophilia present if it presents at neonatal age?

Answer 4

Intracranial haemorrhage
Bleeding circumcision
Prolonged bleeding from venepuncture

Question 5

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

Answer 5

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

Question 6

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

Answer 6

vWD

Question 7

How should mild haemophilia be managed?

Answer 7

Desmopressin: this stimulates f8 + vWF release

Question 8

How should severe haemophilia be managed?

Answer 8

Prophylactic factor replacement via Hickman line

Question 9

How should minor bleeds be managed in haemophilia?

Answer 9

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

Question 10

How should major bleeds be managed in haemophilia?

Answer 10

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

Question 11

What is the other name for idiopathic thrombocytopaenic purpura?

Answer 11

Immune TP

Question 12

In what age group is ITP seen?

Answer 12

2-6y

Question 13

What is the most common cause of ITP?

Answer 13

Viral infection: ITP presents about 1-2w later

Question 14

Recall the aetiology of ITP

Answer 14

Immune destruction of platelets by IgG autoantibodies

Question 15

How should ITP be investigated?

Answer 15

Diagnosis of exclusion: do an FBC + blood smear

Question 16

How should ITP be managed?

Answer 16

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

Question 17

How should major bleeding in ITP be managed?

Answer 17

IV Ig + corticosteroids + anti-RhD

Question 18

How should life-threatening haemorrhage be treated in ITP?

Answer 18

Platelet transfusion

Question 19

When is ITP considered chronic?

Answer 19

after 6 months persistence

Question 20

How should chronic ITP be managed?

Answer 20

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

Question 21

Recall the symptoms of IDA In children

Answer 21

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

Question 22

What iron supplement dose is appropriate for children?

Answer 22

Ferrous sulphate 200mg TDS

Question 23

Upon which chromosome is the beta globin gene found?

Answer 23

Chromosome 11

Question 24

When does HbA synthesis become predominant?

Answer 24

6m

Question 25

What is the defect in sickle cell anaemia?

Answer 25

Defective beta globin chain Glutamine to valine on codon 6 on C11

Question 26

What is the inheritance pattern of SCA?

Answer 26

Autosomal recessive

Question 27

Recall the genotype that encodes for sickle cell trait?

Answer 27

BB^s

Question 28

Recall the genotype that encodes for sickle cell anaemia?

Answer 28

B^s B^s

Question 29

Recall the genotype that encodes for HbC disease

Answer 29

B^c B^s

Question 30

What is beta thalassaemia?

Answer 30

Redcuced beta globin synthesis

Question 31

What is the inheritance pattern of beta thalassaemia?

Answer 31

Autosomal recessive

Question 32

What are the 3 phenotypes of alpha thalassaemia and genotypes?

Answer 32

4 alpha globin deletions = alpha thalassaemia major/ Hb Barts 3 alpha globin deletions = HbH disease 1/2 alpha thalassaemia deletions = alpha thalassaemia trait

Question 33

What is the prognosis of each of the phenotypes of alpha thalassaemia?

Answer 33

Hb Barts = fatal in utero via hydrops fetalis HbH disease = mild/ mod anaemia Trait = asymptomatic with mild/ no anaemia

Question 34

What is the gold standard diagnostic method for both SCD/ thalassaemia?

Answer 34

Electrophoresis

Question 35

What is the most common early sign of SCD?

Answer 35

Hand + foot syndrome (swollen hands + feet + dactylitis)

Question 36

What 2 infections are people with SCD particularly at risk of getting?

Answer 36

Pneumococcus + parvovirus

Question 37

What symptom of SCD only presents in children (not adults)?

Answer 37

Splenomegaly

Question 38

What screening test should be done in suspected SCD?

Answer 38

Solubility test

Question 39

What is the gold standard diagnostic method for SCD?

Answer 39

Haemoglobin electrophoresis

Question 40

What would a blood smear show in SCD?

Answer 40

Sickle cells, Howell-Jolly bodies, nucleated RBCs

Question 41

What prophylactic medications should be given to people with SCD?

Answer 41

OD oral penicillin OD oral folic acid

Question 42

Why is folic acid given in SCD?

Answer 42

Hyperplastic erythropoiesis, growth spurts, increased turnover

Question 43

How should acute crises be treated in sickle cell disease?

Answer 43

Analgesia Hydration Abx O2 Exchange transfusion

Question 44

How should the chronic problems of SCD be treated?

Answer 44

Hydroxycarbamide HSCT in severe cases

Question 45

Recall the 3 key signs and symptoms of beta thalassaemia major

Answer 45

Extramedullary haematopoiesis Anaemia Iron overload

Question 46

Recall 3 signs of extramedulllary haematopoiesis

Answer 46

Bone expansion Hepatosplenomegaly Frontal bossing

Question 47

Recall the signs of beta thalassaemia trait

Answer 47

Microcytosis: otherwise asymptomatic

Question 48

What would a blood smear show in thalassaemia?

Answer 48

Microcytic red cells Tear drop cellls Microspherocytes Target cells Shistocytes Nucleated RBCs

Question 49

How should beta thalassaemia major be managed?

Answer 49

Blood transfusion +/-Iron chelation (desferrioxamine/ deferiprone)

Question 50

Recall 4 signs and symptoms of HDN in the newborn?

Answer 50

Yellow amniotic fluid Pallor Jaundice 24-36 hours after birth Hydrops fetalis (hepatosplenocardiomegaly)

Question 51

How can HDN be investigated?

Answer 51

Coombe's test pos Haemolysis --> raised uBR and reticulocytes Amniocentesis/ USS (shows organomegaly)

Question 52

How can HDN be prevented?

Answer 52

Prophylaxis within 72 hours 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 28 weeks Prophylaxis = 2 doses of anti-D

Question 53

How can HDN be treated?

Answer 53

Phototherapy (uBR) IV Ig (if bilirubin is rising fast)If severe or in utero --> transfusion into umbilical vein

Question 54

Which 6 inborn errors of metabolism are tested for at the newborn blood test screen?

Answer 54

PKU MCADD Glutaric Aciduria T1 Isovaleric acidaemia Homocysteinuria MSUD

Question 55

What is the inheritance pattern of those inborn errors of metabolism?

Answer 55

Autosomal recessive

Question 56

What is the deficiency in PKU?

Answer 56

Phenylalanine hydroxylase

Question 57

Recall the typical appearance of a child with PKU

Answer 57

Blonde hair, blue eyes, eczema, microcephaly

Question 58

What are the symptoms of PKU (unmanaged)?

Answer 58

Learning difficulties and seizures

Question 59

How is PKU managed?

Answer 59

Low phenylalanine diet

Question 60

Recall the signs and symptoms of MCADD

Answer 60

Encephalopathy within 1w + SIDS Hypoglycaemia and hypoketonuria

Question 61

What investigation is done to diagnose MCADD?

Answer 61

Urinalysis: shows absent ketones and medium-chain dicarboxylic aciduria

Question 62

What is G6PD's role?

Answer 62

Rate limiting enzyme in the pentose phosphate shunt

Question 63

What is the inheritance pattern of G6PDD?

Answer 63

X - linked

Question 64

What are the main signs and symptoms of G6PDD?

Answer 64

Neonatal jaundice Acute intravascular haemolysis (--> fever, malaise, abdo pain and dark urine)

Question 65

What type of disease is Gaucher's disease?

Answer 65

Lysosomal storage disease

Question 66

What is Gaucher's disease a deficiency of?

Answer 66

Beta-glucosidase

Question 67

Which group of people are particularly at risk of getting Gaucher's?

Answer 67

Ashkenazi Jews

Question 68

What are the 2 forms of Gaucher's disease, and their symptoms?

Answer 68

Acute infantile form: hepatosplenomegaly, neurological degeneration with seizures Chronic childhood form: hepatosplenomegaly and BM suppression (with anaemia)

Question 69

Which form of Gaucher's disease is most common?

Answer 69

The chronic childhood form

Question 70

What would be seen on BM aspirate in Gaucher's disease?

Answer 70

Gaucher cells

Question 71

How is Gaucher's disease managed?

Answer 71

Splenectomy, bisphosphonates (because of BM suppresion), enzyme replacement, treat anaemia

Question 72

What is the most common form of galactosaemia?

Answer 72

Gal-1-PUT deficiency

Question 73

Recall the signs and symptoms of galactosaemia

Answer 73

High cBR Hepatomegaly Hypoglycaemia Sepsis (gal-1-phos inhibits the immune response)

Question 74

How does galactosaemia present if not picked up in infancy?

Answer 74

BL cataracts

Question 75

How is galactosaemia managed?

Answer 75

Avoidance of galactose

Question 76

How many types of glycogen storage disease are there?

Answer 76

5

Question 77

What symptoms are specific to McArdle's GSD?

Answer 77

Muscle cramps/ weakness after first few mins of exercise, followed by a second 'wind' of energy

Question 78

Recall the symptoms of GSD with the reason behind each one

Answer 78

Hypoglycaemia (G6P cannot leave cells) Lactic acidosis (G6P builds up as lactate) Neutropaenia (G6P suppresses the immune system)

Question 79

How should glycogen storage disease be managed?

Answer 79

Manage intake of CHO carefully to avoid storage