Haematology - Paediatric haematology

Question 1

How should congenital leukaemia in Down’s syndrome be managed?

Answer 1

It will resolve spontaneously in first few months of life

although does relapse In about 25%

Question 2

Why may there be Howel-Jolly bodies on the blood film in sickle cell disease?

Answer 2

They are produced when there is splenic infarction (hyposplenism)

Question 3

If not identified in a Guthrie spot, at what age does sickle cell disease tend to present?

Answer 3

3-6 months,
coincides with
reduction in HbF & gamma chin production
increase in HbS production

Question 4

In what age group might the hand-foot syndrome of sickle cell disease present?

Answer 4

<2 years
Infants with SCD may develop hand-foot syndrome, a dactylitis presenting as exquisite pain and soft tissue swelling of the dorsum of the hands and feet.

Question 5

Why is there no risk of splenic sequestration in sickle cell disease once Howel-Jolly bodies have been identified on blood film?

Answer 5

Once there has been a splenic infarction (which will cause Howel Jolly bodies) you will get hyposplenism but there is no risk of sequestration

Question 6

Recall 2 drugs that are required lifelong in all sickle cell disease patients?

Answer 6

Folic acid
Penicillin (for protection against encapsulated bacteria because of hyposplenism)

Question 7

In sickle cell disease, when is the highest risk of stroke?

Answer 7

In childhood (actually less common in adults with sickle cell)

Question 8

What is the main risk of blood transfusions in treating thalassaemia?

Answer 8

Iron overload

Question 9

Recall some inherited causes of haemolytic anaemia

Answer 9

Spherocytosis
Elliptocytosis
PKU deficiency
G6PD deficiency
Sickle cell

Question 10

What is the most common cause of acquired haemolytic anaemia in children?

Answer 10

E coli causing haemolytic uraemic syndrome

Question 11

Which inherited defect of coagulation often presents with mucosal bleeding?

Answer 11

Von willebrand disease

Question 12

How can you test for von willebrand disease?

Answer 12

Factor VIII assay

VWF ristocetin cofactor activity assay (VWF:RCo),

Question 13

What is the treatment for von willebrand disease?

Answer 13

Low purity factor VIII

Question 14

In which haemoglobinopathy is there benefit to carotid doppler monitoring?

Answer 14

Sickle cell
Do doppler monitoring alongside exchange transfusion if there is turbulent carotid flow

Question 15

genotype of SCA

Answer 15

HbSS

Question 16

genotype of SCTrait

Answer 16

HbAS - asymptomatic except under stress (cold, exercise)

Question 17

give 5 features of haemolysis in SCA

Answer 17

anaemia 60-80g/L
splenomegaly
folate def
gallstones
aplastic crises (parvo B19)

Question 18

give 7 features of a vaso-occlusive “sickled” crisis

Answer 18

stroke
crises (splenic sequestration, chest pain)
gallstones
retinopathy
dactylitis
mesenteric ischaemia
priapism

Question 19

what complications of SCA are more common in childhood vs adulthood

Answer 19

childhood = stroke! splenomegaly, dactylitis 
adulthood = hyposplenism, CKD, retinopathy, pulmonary hypertension

Question 20

what cells on blood film of sickle cell anaemia

Answer 20

sickle cells
target cells

Question 21

3 tests to diagnose sickle cell anaemia

Answer 21

Guthrie - neonate
sickle solubility test
Hb electrophoresis

Question 22

treatment of an acute sickle cell crisis?

Answer 22

opioid analgesia
blood/exchange transfusion

Question 23

give a drug that may be of benefit in SCA

Answer 23

hydorxycarbamide

Question 24

explain the pathophysiology of beta thalassemia

Answer 24

point mutation leading to decreased beta chain synthesis and excess alpha chains (HbA2)

(spectrum of disease)

Question 25

treatment of beta thal

Answer 25

minor and some intermediate may not require
otherwise - blood transfusions with iron chelation to stop overload, plus folic acid

Question 26

explain the pathophysiology of alpha thalassemia

Answer 26

reduced alpha chain synthesis, excess beta chains

Question 27

types of alpha thal

Answer 27

4 alpha genes in total, severity depend son how many deleted

trait = 1/2 deleted = asymptomatic, mild
HbH disease = 3 deleted
hydros foetalis = 4 deleted = incompatible w life

Question 28

3 phenotypical traits of beta thal

Answer 28

skull bossing
maxillary hypertrophy
hairs on end skull x ray

Question 29

inheritance of both thalassemia and SCA

Answer 29

all autosomal recessive

Question 30

which thalassemia type isn’t compatible with life

Answer 30

Hb Bart’s hydrops fetalis, also known as alpha thalassemia major, is the most severe form of alpha thalassemia. The term hydrops fetalis describes the accumulation of large amounts of fluid (edema) in the tissues and organs of a developing fetus.

Question 31

what causes the anaemia in SCA

Answer 31

the anaemia in sickle cell anaemia is NOT totally due to haemolysis alone

HbS is a low-affinity Hb meaning that it more readily releases O2 to tissues, so the EPO-drive is lower which results in anaemia

Question 32

what factor is affected in hameophilia A

Answer 32

8

Question 33

what factor is affected in haemophilia B

Answer 33

factor 9

Question 34

which haemophillia is more common

Answer 34

Haemophilia A is 4x more common than B