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Y4 Paeds > Haematology > Flashcards

Haematology Flashcards

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1
Q

What is the structural difference between adult and foetal haemoglobin ?

A

Adults - 2 alpha and 2 beta subunits
Foetal - 2 alpha and 2 gamma subunits

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2
Q

What are some causes of anaemia in infancy ?

A

Physiological anaemia of infancy
Anaemia of prematurity
Blood loss
Haemolysis
Twin-twin transfusion where blood is unequally distributed between twins that share a placenta.
Haemolytic disease of the newborn
Hereditary spherocytosis
G6PD deficiency

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3
Q

What is physiological anaemia of infancy ?

A

There is a normal dip in haemoglobin around 6 to 9 weeks of age in healthy term babies.
High oxygen delivery to the tissues caused by the high haemoglobin levels at birth cause negative feedback. Production of EPO by the kidneys is suppressed causing reduced Hb by the bone marrow.

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4
Q

What are some reasons for anaemia in premature neonates ?

A

-Less time in utero receiving iron from the mother
-Red blood cell creation cant keep up with rapid growth in the first few weeks
-reduced EPO levels
-blood tests remove a significant portion of their circulating volume

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5
Q

What is the direct Coombs test ?

A

Can be used to check for immune haemolytic anaemia.

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6
Q

What are some causes of anaemia in older children ?

A

Iron deficiency anaemia
Blood loss
Sickle cell anaemia
Thalassaemia
Leukaemia

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7
Q

What is microcytic anaemia ?

A

Low MCV indicating small RBC

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8
Q

What is normocytic anaemia ?

A

Normal MCV indicating normal sized RBC

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9
Q

What is macrocytic anaemia ?

A

Large MCV indicating large RBC

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10
Q

What are some causes of microcytic anaemia ?

A

Thalassaemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning
Sideroblastic anaemia

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11
Q

What are some causes of normocytic anaemia ?

A

Acute blood loss
Anaemia of chronic disease
Aplastic anaemia
Haemolytic anaemia
Hypothyroidism

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12
Q

What are the 2 types of macrocytic anaemia ?

A

Megaloblastic
Normoblastic

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13
Q

What is megaloblastic anaemia ?

A

The result of impaired DNA synthesis preventing the cell from dividing normally. Rather than it dividing it keeps growing into a large abnormal cell.
This is caused by vitamin deficiency.

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14
Q

What causes megaloblastic anaemia ?

A

B12 deficiency
Folate deficiency

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15
Q

What is normoblastic macrocytic anaemia ?

A

Alcohol
Reticulocytosis
Hypothyroidism
Liver disease
Drugs such as azathioprine

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16
Q

What are some symptoms of anaemia ?

A

Tiredness
SOB
Headaches
Dizziness
Palpitations
Worsening of other conditions

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17
Q

What are some symptoms specific to iron deficiency anaemia ?

A

Pica - dietary cravings for abnormal things like dirt
Hair loss - indicate iron deficiency anaemia

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18
Q

What are some generic signs of anaemia ?

A

Pale skin
Conjunctival pallor
Tachycardia
Raised RR

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19
Q

What are some signs that indicate iron deficiency anaemia ?

A

Koilonychia ( spoon shaped nails )
Angular chelitis
Atrophic glossitis ( smooth tongue due to atrophy of the papillae )
Brittle hair and nails

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20
Q

What are some initial investigations when suspecting anaemia ?

A

FBC
Blood film
Reticulocyte count
Ferritin
B12 and folate
Bilirubin
Direct Coombs test

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21
Q

How is severe anaemia treated ?

A

Blood transfusions

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22
Q

How is iron deficiency anaemia managed ?

A

Iron supplements

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23
Q

What are the types of leukaemia ?

A

Acute lymphoblastic leukaemia
Acute myeloid leukaemia
Chronic myeloid leukaemia

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24
Q

When do the types of leukaemia peak ?

A

Acute lymphoblastic leukaemia - 2-3 years old
Acute myeloid leukaemia - under 2 years old

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25
What is the main environmental risk factor for leukaemia ?
Radiation exposure - abdominal X-ray during pregnancy
26
What conditions are associated with developing leukaemia ?
Down’s syndrome Klinefelter’s syndrome Noonan syndrome Fanconi’s anaemia
27
How does leukaemia present ?
Persistent fatigue Unexplained fever Failure to thrive Weight loss Night sweats Pallor Petechiae Unexplained bleeding Abdominal pain Generalised lymphadenopathy Unexplained or persistent bone or joint pain Hepatosplenomegaly
28
What investigations should be performed to establish a diagnosis of leukaemia ?
FBC Blood film Bone marrow biopsy Lymph node biopsy
29
What further tests may be required for staging leukaemia ?
CXR CT scan Lumbar puncture Genetic analysis and immunophenotyping
30
What is the management of leukaemia ?
Chemotherapy Radiotherapy Bone marrow transplant Surgery
31
What are some complications of chemotherapy ?
Failure to treat leukaemia Stunted growth and development Immunodeficiency and infections Neurotoxicity Infertility Secondary malignancy Cardio toxicity
32
What is idiopathic thrombocytopenic purpura ?
A condition characterised by idiopathic ( spontaneous ) thrombocytopenia ( low platelet count ) causing a purpurin rash ( non-blanching rash ).
33
What causes ITP ?
Caused by a type 2 hypersensitivity reaction. It is caused by the production of antibodies that target and destroy platelets.
34
How does ITP present ?
Under 10 years old Often recent viral illness Bleeding ( from gums, epistaxis or Menorrhagia ) Bruising Petechial or purpuric rash
35
What are some treatment options if someone with ITP is actively bleeding ?
Prednisolone IV immunoglobulins Blood transfusions Platelet transfusions - only temporary
36
Why is platelet transfusions only temporary in the treatment of ITP ?
Antibodies against platelets will begin destroying the transfused platelets as soon as they are transfused.
37
What are some key eduction and advice for ITP patients ?
Avoid contact sports Avoid IM injections and procedures such as LP Avoid NSAIDs, aspirin and blood thinning medications Advice or managing nosebleeds Seek help after any injury that may cause internal bleeding.
38
What are some complications of ITP ?
Chronic ITP Anaemia Intracranial and subarachnoid haemorrhage GI bleeding
39
What is sickle cell anaemia ?
A genetic condition that causes sickle ( crescent ) shaped red blood cells. The abnormal shape makes the red blood cells more fragile and easily destroyed leading to haemolytic anaemia.
40
What is the pathophysiology of sickle cell disease ?
Autosomal recessive condition affecting the gene for beta-globin on chromosome 11. Patients with one abnormal copy of the gene results in sickle cell trait.
41
How does sickle cell disease relate to malaria ?
Having one copy of the gene ( sickle cell trait ) reduces the severity of malaria. As a result , patients with sickle cell trait are more likely to survive malaria and pass on their genes.
42
When is sickle cell disease screened ?
Newborn blood spot test at day 5
43
What are some complications of sickle cell disease ?
Anaemia Increased risk of infection CKD Sickle cell crises Acute chest syndrome Stroke AVN Pulmonary HTN Gallstones Priapism
44
What can trigger a sickle cell crisis ?
Dehydration Infection Stress Cold weather
45
What is the management of sickle cell crisis ?
Low threshold for admission to hospital Treating infection that may have been the trigger Keep warm Good hydration Analgesia
46
How does sickle cell disease cause vaso-occlusive crisis ?
Caused by the sickle-shaped red blood cells clogging capillaries, causing distal ischaemia.
47
How does vaso-occlusive crisis present ?
Pain and swelling in the hands or feet but can affect the chest, back or other body areas. Associated with fever
48
What causes splenic sequestration crisis ?
Red blood cells blocking blood flow within in the spleen. It causes an acutely enlarged and painful spleen. Blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock.
49
What can splenic sequestration crisis cause ?
Splenic infarction leading to hyposplenism and susceptibility to infections - encapsulated bacteria.
50
How is a splenic sequestration crisis managed ?
Supportive - blood transfusions and fluid resus to treat Splenectomy can prevent a sequestration crises
51
What is an aplastic crisis ?
Describes a temporary absence of the creation of new red blood cells. It is usually triggered by infection with parvovirus B19. It leads to significant anaemia.
52
What is the management of an aplastic crisis ?
Supportive - blood transfusions if necessary Resolves spontaneously within a week
53
What is acute chest syndrome ?
Occurs when the vessels supplying the lungs become clogged with red blood cells. Medical emergency
54
What can trigger acute chest syndrome ?
Vaso-occlusive crisis Fat embolism Infection
55
How does acute chest syndrome present ?
Fever SOB Chest pain Cough Hypoxia
56
How does acute chest syndrome present on an X-ray ?
Pulmonary infiltrates
57
How is acute chest syndrome managed ?
Analgesia Good hydration - IV fluids Antibiotics or antivirals Blood transfusions Incentive spirometry Respiratory support with oxygen, non-invasive ventilation or mechanical ventilation.
58
How is sickle cell disease managed ?
Avoid triggers for crises Up to date vaccinations Antibiotic prophylaxis - penicillin V Hydroxycarbamide - stimulates HbF Crizanlizumab Blood transfusions Bone marrow transplant
59
How does crizanlizumab work in sickle cell disease ?
A monoclonal antibody that targets P-selection. It prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.
60
What is thalassaemia ?
Related to a genetic defect in the protein chains that make up haemoglobin. Defects in the alpha globin chains lead to alpha thalassaemia and defects in the beta globin chains lead to beta thalassaemia. Autosomal recessive
61
How does thalassaemia cause splenomegaly ?
The red blood cells are more fragile and break down more easily. The spleen acts as a sieve to filter the blood and remove older blood cells. In patients with thalassaemia the spleen collects all the destroyed red blood cells resulting in splenomegaly.
62
What are some potential signs and symptoms of thalassaemia ?
Microcytic anaemia Fatigue Pallor Jaundice Gallstones Splenomegaly Poor growth and development Pronounced forehead and malar eminences
63
How does thalassaemia cause a pronounced forehand and Malar eminences ?
Bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia. This causes a susceptibility to fractures and prominent features.
64
How is a diagnosis of thalassaemia made ?
FBC Haemoglobin electrophoresis DNA testing
65
How does iron overload occur in thalassaemia ?
As a result of the faulty creation of red blood cells recurrent transfusions and increased absorption of iron in the gut in response to anaemia.
66
what can iron overload in thalassaemia cause ?
Fatigue Liver cirrhosis Infertility Impotence Heart failure Heart failure Arthritis Diabetes Osteoporosis and joint pain
67
Which chromosome is affected in alpha thalassaemia ?
Chromosome 16
68
What is the management of alpha thalassaemia ?
Monitor FBC and for any complications Blood transfusions Splenectomy Bone marrow transplant
69
What chromosome is affected in beta thalassaemia ?
Chromosome 11
70
What are the 3 types of thalassaemia ?
Thalassaemia minor Thalassaemia intermedia Thalassaemia major
71
What is thalassaemia minor ?
They are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene. Causes mild microcytic anaemia
72
What is thalassaemia intermedia ?
Patients with beta thalassaemia intermedia have 2 abnormal copies of the beta globin gene. This can either be 2 defective genes or one defective and one deletion gene. More significant microcytic
73
What is the management of thalassaemia intermedia ?
Occasional blood transfusions May require iron chelation to prevent iron overload
74
What is thalassaemia major ?
Homozygous for the deletion genes. Most severe and causes failure to thrive
75
What can thalassaemia major cause ?
Severe microcytic anaemia Splenomegaly Bone deformities
76
What is the management for thalassaemia major ?
Regualr trasnfusions Iron chelation Splenectomy Bone marrow can be potentially be curative
77
What is hereditary spherocytosis ?
A condition where the red blood cells are sphere shaped making them fragile and easily destroyed when passing through the spleen. Autosomal dominant
78
How does hereditary spherocytosis present ?
Jaundice Anaemia Gallstones Splenomegaly Episodes of haemolytic anaemia Aplastic crisis
79
How is a diagnosis of hereditary spherocytosis ?
Is diagnosed by family history and clinical features along with spherocytes on the blood film. The mean corpuscular haemoglobin concentration is raised on FBC. Reticulocytes will be raised due to rapid turnover of red blood cells.
80
What is the management of hereditary spherocytosis ?
Folate supplementation and splenectomy Removal of gall bladder Transfusions in acute crisis
81
What is G6PD deficiency ?
A condition where there is a defect in the G6PD enzyme normally found in all cells in the body. X linked recessive - males more likely to be affected
82
What triggers a crises in G6PD deficiency ?
Infections Medications - anti malarial Fava beans
83
What is the pathophysiology of G6PD deficiency ?
The G6PD enzyme is responsible for helping protect cells from damage by reactive oxygen species. ROS are reactive molecules that contain oxygen produced during cell metabolism. A deficiency in the G6PD enzyme makes the cell vulnerable to ROS leading to haemolysis.
84
How does G6PD present ?
Neonatal jaundice Anaemia Gallstones Splenomegaly
85
How does G6PD present on a blood film ?
With heinz bodies due to the denatured haemoglobin within the red blood cells
86
What is the management of G6PD ?
Avoid fava beans Avoid certain medications : - primaquine - Ciprofloxacin - nitrofurantoin - trimethoprim - sulfonylurea - sulfasalazine

Y4 Paeds (14 decks)

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