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Paediatrics Haematology Flashcards

1
Q

What is haemoglobin made from?

A

4 protein subunits

Fetal haemoglobin (HbF) = two alpha and two gamma

Adult haemoglobin (HbA) = two alpha and two beta

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2
Q

Draw the oxygen dissociation curve for fetal and adult Hb?

A
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3
Q

When does the production of HbF decrease?

A

From 32 to 36 weeks gestation (HbA is produced in greater quantities)

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4
Q

What is the problem in sickle cell disease?

A

Genetic abnormality for the beta subunit responsible for causing the sickle shape of the RBCs (doesn’t happen in fetal haemoglobin)

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5
Q

What is the treatment in sickle cell disease?

A

Hydroxycarbamide to increase production of fetal Hb

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6
Q

What is anaemia?

A

Low level of Hb in the blood (not a disease - the result of one)

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7
Q

What is haemoglobin?

A

Protein found in RBCs (iron is needed to make it)

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8
Q

What are the causes of anaemia in infancy?

A

Physiologic anaemia of infancy

Anaemia of prematurity

Blood loss

Haemolysis

Twin-twin transfusion

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9
Q

What are the causes of haemolysis in a neonate?

A

Haemolytic disease of the newborn

Hereditary spherocytosis

G6PD deficiency

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10
Q

When does physiologic anaemia of infancy occur and why?

A

At six to nine weeks of age in healthy term babies - high oxygen delivery to tissues caused by high Hb levels at birth cause negative feedback - production of erythropoietin by the kidneys is suppressed and there is reduced production of Hb by the bone marrow

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11
Q

Why do premature neonates become anaemic?

A

Less time in utero receiving iron from mother

RBC creation can’t keep up with rapid growth in first few weeks

Reduced erythropoietin levels

Blood tests remove a significant proportion of circulating volume

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12
Q

How to test for haemolytic disease of the newborn?

A

direct Coombs test (DCT)

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13
Q

What are the 2 main causes of anaemia in older children?

A

Iron deficiency anaemia secondary to dietary insufficiency

Blood loss from menstruation in older girls

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14
Q

What are the rarer causes of anaemia in children?

A

Sickle cell anaemia

Thalassaemia

Leukaemia

Hereditary spherocytosis

Hereditary eliptocytosis

Sideroblastic anaemia

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15
Q

What is a common cause of chronic anaemia and iron deficiency worldwide?

A

Helminth infection with roundworms, hookworms or whipworms

Can be very common in developing countries

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16
Q

What is the treatment of helminth infection?

A

Albendazole

Mebendazole

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17
Q

What are the causes of microcytic anaemia?

A

T – Thalassaemia

A – Anaemia of chronic disease

I – Iron deficiency anaemia

L – Lead poisoning

S – Sideroblastic anaemia

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18
Q

What are the causes of normocytic anaemia?

A

A – Acute blood loss

A – Anaemia of Chronic Disease

A – Aplastic Anaemia

H – Haemolytic Anaemia

H – Hypothyroidism

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19
Q

What are the two types of macrocytic anaemia?

A

Megaloblastic (result of impaired DNA synthesis preventing cell from dividing normally - vitamin deficiency)

Normoblastic

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20
Q

What are the causes of megaloblastic anaemia?

A

B12 deficiency

Folate deficiency

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21
Q

What is normoblastic macrocytic anaemia caused by?

A

Alcohol

Reticulocytosis (usually from haemolytic anaemia or blood loss)

Hypothyroidism

Liver disease

Drugs e.g. azathioprine

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22
Q

What are the symptoms of anaemia?

A

Tiredness

Shortness of breath

Headaches

Dizziness

Palpitations

Worsening of other conditions

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23
Q

What symptoms are specific to iron deficiency anaemia?

A

Pica - dietary cravings for abnormal things e.g. dirt

Hair loss - iron deficiency anaemia

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24
Q

What are some generic signs of anaemia?

A

Pale skin

Conjunctival pallor

Tachycardia

Raised resp rate

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25
Q

What are the specific signs of iron deficiency anaemia?

A

Koilonychia (spoon shaped nails)

Angular chelitis

Atrophic glossitis (smooth tongue due to atrophy of papillae)

Brittle hair and nails

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26
Q

What sign is specific to haemolytic anaemia? and Thalassaemia?

A

Haemolytic = Jaundice

Thalassaemia = bone deformities

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27
Q

What are the initial investigations for anaemia?

A

Full blood count for haemoglobin and MCV

Blood film

Reticulocyte count

Ferritin (low iron deficiency)

B12 and folate

Bilirubin (raised in haemolysis)

Direct Coombs test (autoimmune haemolytic anaemia)

Haemoglobin electrophoresis (haemoglobinopathies)

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28
Q

What does a high level of reticulocytes indicate in anaemia?

A

Active production of RBCs to replace lost cells - anaemia is due to haemolysis or blood loss

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29
Q

What is the management of anaemia?

A

Establish underlying cause and direct treatment accordingly

If severe then may need blood transfusions

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30
Q

What are the causes of iron deficiency?

A

Dietary insufficiency - most common

Loss of iron e.g. in heavy menstruation

Inadequate absorption e.g. in Crohn’s

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31
Q

Where is iron mainly absorbed?

A

Duodenum and jejunum

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32
Q

In what form is iron mainly absorbed? What can interfere with this?

A

In the soluble ferrous (Fe2+) form - when less acid in stomach it changes to the insoluble ferric (Fe3+ form)

PPIs can interfere and coeliacs / Crohn’s disease

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33
Q

How does iron travel around the blood?

A

As ferric ions bound to carrier proteins called transferrin

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34
Q

What is the total iron binding capacity (TIBC)?

A

Total space on the transferrin molecule for the iron to bind

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35
Q

What is the transferrin saturation?

A

Serum iron / TIBC

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36
Q

What is ferritin?

A

Form that iron takes when it is stored in cells (extra is released when there is inflammation e.g. with infection or cancer)

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37
Q

What can cause low / high ferritin?

A

Low = iron deficiency (could still be normal especially if infection)

High = difficult to interpret and means inflammation usually

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38
Q

Is serum iron a useful measure?

A

No - significantly varies throughout the day - higher levels in the morning and after eatin iron containing meals

On its own its not a useful measure

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39
Q

What can increase the levels of serum ferritin, serum iron and TIBC?

A

Supplementation with iron

Acute liver damage (lots of iron is stored in the liver

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40
Q

What is the management of anaemia?

A

Treat underlying cause

Iron supplemented with ferrous sulphate or ferrous fumarate - slowly corrects the iron deficiency (causes constipation and black coloured stools - unsuitable for malabsorption)

Blood transfusions are very rarely necessary

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41
Q

What is leukaemia?

A

Cancer of a particular line of the stem cells in the bone marrow - causing unregulated production of certain types of blood types (chronic is slow and acute is fast) cell line myeloid or lymphoid

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42
Q

Draw out cell lineage?

A
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43
Q

What are the types of leukaemia?

A

Acute lymphoblastic leukaemia (ALL)

Acute myeloid leukaemia (AML)

Chronic myeloid leukaemia (CML) is rare

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44
Q

What age does ALL and AML peak?

A

ALL peaks aged 2-3 years

AML peaks aged under 2 years

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45
Q

What is the result of the excessive production of a single type of cell?

A

Pancytopaenia:

Low RBCs (anaemia)

Low WBCs (leukopenia)

Platelets (thrombocytopaenia)

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46
Q

What is the main environmental risk factor for leukaemia?

A

Radiation exposure

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47
Q

Which conditions are predisposing to leukaemia?

A

Down’s syndrome

Kleinfelter syndrome

Noonan syndrome

Faconi’s anaemia

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48
Q

Which conditions are predisposing to leukaemia?

A

Down’s syndrome

Kleinfelter syndrome

Noonan syndrome

Faconi’s anaemia

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49
Q

How does leukaemia present in children?

A

Persistent fatigue

Unexplained fever

Failure to thrive

Weight loss

Night sweats

Pallor (anaemia)

Petechiae and abnormal bruising (thrombocytopania)

Abdo pain

Generalised lymphadenopathy

Unexplained or persistent bone or joint pain

Hepatosplenomegaly

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50
Q

What is the first step if leukaemia is suspected?

A

FBC within 48 hours

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51
Q

What investigations to establish the diagnosis of leukaemia?

A

FBC for anaemia, leukopenia, thrombocytopenia and high numbers of WBCs

Blood film for blast cells

Bone marrow biopsy

Lymph node biopsy

52
Q

What testing can be done to stage leukaemia?

A

Chest X-Ray

CT scan

Lumbar puncture

Genetic analysis and immunophenotyping of abnormal cells

53
Q

What is the treatment of leukaemia?

A

Chemotherapy

Radiotherapy

Bone marrow transplant

Surgery

54
Q

What are the complications of chemotherapy?

A
  • Failure to treat leukaemia
  • Stunted growth and development
  • Immunodeficiency and infections
  • Neurotoxicity
  • Infertility
  • Secondary malignancy
  • Cardiotoxicity
55
Q

What is the prognosis for leukaemia?

A

Overall cure rate for ALL is 80% but prognosis depends on individual factors

Outcomes less positive for AML

56
Q

What is idiopathic thrombocytopenic purpura?

A

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

57
Q

What is ITP caused by?

A

Type II hypersensitivity reaction - antibodies which target and destroy platelets - can be spontaneous or triggered by something e.g. viral infection

58
Q

How does ITP present?

A

Children under 10

Recent viral illness

Onset over 24-48 hours

Bleeding e.g. gums, epistaxis, menorrhagia

Bruising

Petechial or purpuric rash caused by bleeding under skin

59
Q

What are petechiae, purpura and ecchymoses?

A

NON BLANCHING REGIONS

Petechiae = pin-prick spots (around 1mm) of bleeding under skin

Purpura = larger (3-10mm) spots of bleeding

Ecchymoses = large area of blood (more than 10mm)

60
Q

How is ITP diagnosed?

A

Urgent FBC for the platelet count (other values in FBC should be normal)

Other causes excluded e.g. heparin induced thrombocytopenia and leukaemia

61
Q

What is the treatment of ITP?

A

Only if patient is actively bleeding or severe thrombocytopenia (platelets below 10)

Prednisolone

IV immunoglobulins

Blood transfusions if required

Platelet transfusions only work temporarily

62
Q

Why do platelet transfusions only work temporarily?

A

Antibodies against platelets will begin destroying the transfused platelets as soon as infused

63
Q

What advice for patients with ITP?

A

Avoid contact sports

Avoid IM injections

Avoid NSAIDs, aspirin and blood thinners

Advice on managing nosebleeds

Seek help after any injury which may cause internal bleeding e.g. car accidents or head injuries

64
Q

What are some complications of ITP?

A

Chronic ITP

Anaemia

Intracranial and subarachnoid haemorrhage

Gastrointestinal bleeding

65
Q

What is sickle cell anaemia?

A

Genetic condition causing sickle (crescent) shaped RBCs - making them fragile and more easily destroyed leading to haemolytic anaemia

66
Q

What is the pathophysiology of sickle cell anaemia?

A

Patients with sickle cell disease have an abnormal variant called haemoglobin S (HbS) - causing the RBCs to be “sickle” shaped

67
Q

What is the inheritance for sickle cell anaemia? What does it affect?

A

Autosomal recessive condition where there is an abnormal gene for beta-globin on chromosome 11 (one copy results in sickle-cell trait - usually asymptomatic)

68
Q

What is the relation of sickle cell disease to malaria?

A

Sickle cell disease is more common in patients from areas affected by malaria e.g. africa, india, middle east, carribean. Having one copy of gene reduces the severity of malaria - more likely to survive and pass on their genes - there is selective advantage to having the gene

69
Q

How is sickle cell disease diagnosed?

A

Pregnant women at risk of being carrier as offered testing during pregnancy

Also tested for on newborn screening heel prick test at 5 days of age

70
Q

What are the complications of sickle cell disease?

A

Anaemia

Increased risk of infection

Stroke

Avascular necrosis in large joints e.g. hips

Pulmonary hypertension

Painful and persistent penile erection (priapism)

Chronic kidney disease

Sickle cell crises

Acute chest syndrome

71
Q

What is the general management of sickle cell disease?

A

Avoid dehydration and other triggers of crises

Ensure vaccines are up to date

Abx prophylaxis to protect against infection usually with pen V (phenoxymethypenicillin)

Hydroxycarbamide used to stimulate production of HbF (protective against sickle cell crises and acute chest syndrome)

Bone transfusion for severe anaemia

Bone marrow transplant can be curative

72
Q

What is a sickle cell crisis?

A

Umbrella term for a spectrum of acute crises related to the condition - range from mild to life threatening

Spontaneous or triggered by stresses e.g. infection, dehydration, cold or significant life events

73
Q

How are sickle cell crises managed?

A

Low threshold for admission to hospital

Treat any infection

Keep warm

Keep well hydrated with IV fluids

Simple analgesia e.g. paracetamol and ibuprofen (NSAIDs avoided in renal impairment)

Penile aspiration for priapism

74
Q

What is a vaso-occlusive crises?

A

Sickle shaped blood cells clog capillaries causing distal ischaemia

Associated with dehydration and raised haematocrit

75
Q

What are the symptoms of a vaso occlusive crisis?

A

Pain, fever and symptoms of infection (if present)

76
Q

How is priapism caused by vaso-occlusive crisis treated?

A

Aspiration of blood from the penis

77
Q

What is a splenic sequestration crisis?

A

RBCs block blood flow within the spleen - causing it to be acutely enlarged and painful

78
Q

What can pooling of blood in spleen cause?

A

Severe anaemia

Circulatory collapse (hypovolaemic shock)

79
Q

What is the management of splenic sequestration crisis?

A

Emergency treatment

Management is supportive

Blood transfusions

Fluid resusfor anaemia and shock

80
Q

What is the management of recurrent splenic sequestration?

A

Splenectomy

(recurrence can cause splenic infarction = susceptibility to infections)

81
Q

What is aplastic crisis?

A

Temporary loss of the creation of new blood cells commonly caused by infection with parvovirus B19

Leads to significant anaemia - management is supportive with blood transfusions if necessary

Usually resolves spontaneously within a week

82
Q

How is acute chest syndrome diagnosed?

A

Fever or respiratory symptoms with new infiltrates seen on CXR

83
Q

What can cause acute chest syndrome?

A

Infection e.g. pneumonia or bronchiolitis

Non-infective causes (e.g. pulmonary vaso-occlusion or fat emboli)

84
Q

What is the management of acute chest syndrome?

A

Abx or antivirals for infections

Blood transfusions for anaemia

Incentive spirometry using a machine which encourages effective and deep breathing

Artifical ventilation with NIV or intubation

85
Q

What is thalassaemia?

A

Genetic defect in the protein chain that makes up haemoglobin

Defect in alpha globin chain = alpha thalassaemia

Defect in beta globin chain = beta thalassaemia

Both conditions are autosomal recessive = varying degrees of anaemia

86
Q

Why does thalassaemia lead to splenomegaly?

A

RBCs are more fragile and break down more easily - spleen collects all destroyed RBCs

87
Q

Why are patients with thalassaemia prone to fractures and prominent features e.g. pronounced forehead and malar eminences (cheek bones)?

A

Bone marrow expands to produce extra RBCs

88
Q

What are the signs and symptoms of thalassaemia?

A

Microcytic anaemia (low mean corpuscular volume)

Fatigue

Pallor

Jaundice

Gallstones

Splenomegaly

Poor growth and development

Pronounced forehead and malar eminences

89
Q

How is thalassaemia diagnosed?

A

FBC for microcytic anaemia

Haemoglobn electrophoresis to diagnose globin abnormalities

DNA testing to look for genetic abnormality

Pregnant women are offered screening test for thalassaemia at booking

90
Q

Why does iron overload occur in thalassaemia?

A

Faulty creation of RBCs

Recurrent tranfusions

Increased iron absorption in gut in response to anaemia

91
Q

How are patients with thalassaemia monitored for iron overload?

A

Serum ferritin monitored

92
Q

How is iron overload managed?

A

Limiting transfusions

Performing iron chelation

93
Q

How does iron overload present?

A

Fatigue

Liver cirrhosis

Infertility

Impotence

Heart failure

Arthritis

Diabetes

Osteoporosis and joint pain

94
Q

Where is the genetic defect for alpha-thalassaamia?

A

Protein on chromosome 16

95
Q

What is the management of alpha-thalassaemia?

A

Monitoring FBC

Monitoring for complications

Blood transfusions

Splenectomy performed

Bone marrow transplant can be curative

96
Q

Where is the defect for beta-thalassaemia?

A

Chromosome 11 (can be abnormal copy or deletion genes where there is no function in beta globin protein)

97
Q

What are the three types of thalassaemia?

A

Thalassaemia minor / intermedia / major

98
Q

What are the features of thalassaemia minor?

A

Patients are carriers of an abnormally functioning beta globin gene (one abnormal and one normal gene)

99
Q

What is the management of thalassaemia minor?

A

Mild microcytic anaemia usually patients require only monitoring

100
Q

What are the features of thalassaemia intermedia?

A

Two abnormal copies of beta globin gene (two defective or one defective and one deletion gene)

Causes more significant microcytic anaemia

101
Q

What is the treatment of thalassaemia intermedia?

A

Require monitoring and occasional blood transfusions (maybe also iron chelation to prevent iron overload)

102
Q

What is the genetic defect in thalassaemia major?

A

Homozygous for the deletion gene - no functioning betal globin genes at all - most severe = severe anaemia and failure to thrive in early childhood

103
Q

What are the features of thalassaemia major?

A

Severe microcytic anaemia

Splenomegaly

Bone deformities

104
Q

What is the management of thalassaemia major?

A

Regular transfusions

Iron chelation

Splenectomy

Bone marrow transplant can potentially be curative

105
Q

What is hereditary spherocytosis?

A

Condition where RBCs are sphere shaped making them fragile and easily destroyed

106
Q

What is the most common inherited haemolytic anaemia in northern europe?

A

Hereditary spherocytosis

107
Q

What is the inheritance of hereditary spherocytosis?

A

Autosomal dominant

108
Q

How does hereditary spherocytosis present?

A

Jaundice

Anaemia

Gallstones

Splenomegaly

109
Q

What is a haemolytic crisis in hereditary spherocytosis?

A

Haemolysis, anaemia and jaundice is more significant (often triggered by infections)

110
Q

What is an aplastic crisis?

A

Increased anaemia, haemolysis and jaundice without normal response from bone marrow of creating new red blood cells (no reticulocyte response often triggered by infection with parvovirus)

111
Q

How is hereditary spherocytosis diagnosed?

A

Family history and clinical features along with spherocytes on the blood film

112
Q

What is the abnormality on FBC for hereditary spherocytosis?

A

Increased mean corpuscular haemoglobin concentration (MCHC)

Increased reticulocytes

113
Q

What is the management of hereditary spherocytosis?

A

Folate supplementation and splenectomy

Cholecystectomy (removal of gallbladder) if gallstones a problems

Transfusions during acute crises

114
Q

What are the features of hereditary elliptocytosis?

A

Similar to hereditary spherocytosis except RBC are ellipse shaped

Autosomal dominant

Presentation and management is similar to hereditary spherocytosis

115
Q

What is G6PD deficiency?

A

Condition where there is a defect in the G6PD enzyme found in all cells in the body

116
Q

Who is G6PD deficiency most common in?

A

Mediterranean

Middle eastern

African patients

117
Q

What is the pattern of inheritance for G6PD deficiency?

A

Inherited in an X linked recessive pattern - usually only affects males as they have a single copy of the gene

118
Q

What does G6PD deficiency cause?

A

Crises that are triggered by infections, medications or fava beans (broad beans)

119
Q

What is the function of the G6PD enzyme?

A

Protects cells from damage by reactive oxygen species - molecule which contain oxygen produced during normal cell metabolism and during stress - v important in RBCs - a deficiency makes cells more vulnerable to ROS leading to haemolysis in RBCs - causing acute haemolytic anaemia

120
Q

How does G6PD present?

A

Neonatal jaundice

121
Q

What are the other features of G6PD?

A

Anaemia

Intermittent jaundice (particularly in response to triggers)

Gallstones

Splenomegaly

122
Q

What may be seen on blood film for G6PD deficiency?

A

Heinz bodies - blobs of denatured haemoglobin (“inclusions”) seen within the RBCs

123
Q

How can G6PD deficiency be diagnosed?

A

G6PD enzyme assay

124
Q

What is the management of G6PD deficiency?

A

Avoid triggers (including fava beans and certain medications)

125
Q

Which medications trigger haemolysis and should be avoided?

A

Primaquine (an antimalarial)

Ciprofloxacin

Nitrofurantoin

Trimethoprim

Sulfonylureas (e.g gliclazide)

Sulfasalazine and other sulphonamide drugs

Paediatrics (18 decks)

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