paediatric haematology

Question 1

what are causes of anaemia in infancy?

Answer 1

• physiological
• anaemia of prematurity
• blood loss
• haemolysis
• twin- twin transfusion (blood is unequally distributed)

Question 2

what are common causes of haemolytic anaemia?

Answer 2

• Rh or ABO incompatability
• hereditary spherocytosis
• G6PD deficiency

Question 3

why do you get physiological anaemia?

Answer 3

• get it at 6-9 weeks
• this is because getting higher levels of oxygen, which causes negative feedback
• production of erythropoetin is then surpressed
• then there is less production of haemoglobin by the bone marrow

Question 4

what are the 3 types of anaemia?

Answer 4

Microcytic anaemia (low MCV indicating small RBCs)

Normocytic anaemia (normal MCV indicating normal sized RBCs)

Macrocytic anaemia (large MCV indicating large RBCs)

Question 5

what are causes of microcytic anaemia?

Answer 5

T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia- body unable to put iron into haemoglobin

Question 6

what are causes of normocytic anaemia?

Answer 6

A – Acute blood loss
A – Anaemia of Chronic Disease
A – Aplastic Anaemia
H – Haemolytic Anaemia
H – Hypothyroidism

Question 7

what are causes of macrocytic anaemia?

Answer 7

• B12 and folate deficiency

Question 8

what are the main reasons for iron deficiency anaemia in children?

Answer 8

Dietary insufficiency. This is the most common cause in children.

Loss of iron, for example in heavy menstruation

Inadequate iron absorption, for example in Crohn’s disease- absorbed by the duodenum and jejunum- requires acid so proton pump inhibitors can interfere with this process

Question 9

what happens in ITP?

Answer 9

idiopathic (spontaneous) thrombocytopenia (low platelet count) causing a purpuric rash (non-blanching rash).

Question 10

who is typically affected by ITP?

Answer 10

usually present in children under 10 years old. Often there is a history of a recent viral illness. The onset of symptoms occurs over 24 – 48 hours:

Question 11

when should ITP be treated?

Answer 11

• depends on ow low the platelet count falls- ussually monitor until normal- 70% remit in 3 months

tx only if bleeding or severe thrombocytopenia (<10)

Question 12

what are the treatment options for ITP?

Answer 12

Prednisolone
IV immunoglobulins
Blood transfusions if required
Platelet transfusions only work temporarily

Question 13

what is some advice for ITP?

Answer 13

Avoid contact sports

Avoid intramuscular injections and procedures such as lumbar punctures

Avoid NSAIDs, aspirin and blood thinning medications

Advice on managing nosebleeds

Seek help after any injury that may cause internal bleeding, for example car accidents or head injuries

Question 14

what are complications of ITP?

Answer 14

Chronic ITP
Anaemia
Intracranial and subarachnoid haemorrhage
Gastrointestinal bleeding

Question 15

which gene is affected in sickle cell?

Answer 15

beta globin on ch11

Question 16

which infection can cause aplastic crisis in sickle cell patients?

Answer 16

Aplastic crisis describes a situation where there is temporary loss of the creation of new blood cells. This is most commonly triggered by infection with parvovirus B19.

Question 17

when is sickle cell checked for?

Answer 17

heal prick test at age 5 days

Question 18

what is the treatment for sickle cell crisis?

Answer 18

• supportive management

tx infection, keep warm, IV fluids

Question 19

what happens in sickle cell vaso-oclusive crisis?

Answer 19

• painful crisis

sickle shaped blood cells clogging capillaries and causing distal ischaemia. It is associated with dehydration and raised haematocrit. Symptoms are typically pain, fever and those of the triggering infection

Question 20

what is splenic sequestration crisis?

Answer 20

in sickle cell blood flow is blocke din the spleen leasing to enlarged spleen, severe anaemia nand circulatory collapse-> splenectomy can prevent this

Question 21

what to do for acute chest syndrome in sickle cell patients?

Answer 21

this is a medical emergency with high mortality

Antibiotics or antivirals for infections

Blood transfusions for anaemia

Incentive spirometry using a machine that encourages effective and deep breathing

Artificial ventilation with NIV or intubation may be required

Question 22

what is the inheritence pattern of hereditary spherocytosis?

Answer 22

dominant- founs in northern europeans

Question 23

what happens in hereditary spherocytosis?

Answer 23

RBC sphere shaped and break up as theu go through the spleen

• parvovirus infection can lead to an aplastic crisis in these patients

Question 24

what is the presentation for heriditary spherocytosis?

Answer 24

Jaundice
Anaemia
Gallstones
Splenomegaly

Question 25

how is hereditary spherocytosis diagnosed?

Answer 25

• spherocytes in blood film
• mean corpuscular HB conc raised
• raised reticulocytes (due to rapid cell turnover)

Question 26

how is hereditary spherocytosis managed?

Answer 26

folate supplementation and splenectomy.

Removal of the gallbladder (cholecystectomy) may be required if gallstones are a problem.

Transfusions may be required during acute crises.

Question 27

what is the pattern of inheritence for G6PD deficiency?

Answer 27

• X linked recessive

Question 28

how does G6PD deficiency make someone more susceptible to haemolysis?

Answer 28

A deficiency in G6PD makes cells more vulnerable to ROS, leading to haemolysis in red blood cells. Periods of increased stress, with a higher production of ROS, can lead to acute haemolytic anaemia.

Question 29

what can be seen in blood fillm with G6PD deficiency?

Answer 29

Heinz bodies may be seen on a on blood film. Heinz bodies are blobs of denatured haemoglobin (“inclusions”) seen within the red blood cells.

Diagnosis can be made by doing a G6PD enzyme assay.

Question 30

what is managedmnt of GPD deficiency?

Answer 30

avoid triggers like fava beans and certain medications

Question 31

what can cure alpha thalaseamia?

Answer 31

bone marrow transplant