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MRCPCH Clinicals > Haematology > Flashcards

Haematology Flashcards

1
Q

Lab features of iron deficiency anaemia

A

microcytic, hypochromic anaemia

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2
Q

Lab features of red cell aplasia

A

low reticulocyte count, normal bilirubin, negative DAT

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3
Q

Lab features of a haemolytic anaemia

A

raised reticulocyte count, high bilirubin (unconjugated), positive DAT

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4
Q

What are the causes of microcytic anaemia?

A 
IDA
Anaemia of chronic disease
Disorders of globin synthesis
Lead poisoning
Sideroblastic anaemia
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5
Q

How is Diamond-Blackfan anaemia inherited?

A

20% familial, 80% sproadic

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6
Q

When does Diamond-Blackfan present?

A

2-3 months, but can present at birth

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7
Q

What other anomalies can patients with Diamond-Blackfan anaemia have?

A

Short stature
Abnormal thumbs
Cleft palate
Microcephaly

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8
Q

How is Diamond-Blackfan anaemia treated?

A

Steroids

Transfusion

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9
Q

What is Diamond-Blackfan anaemia?

A

Inability of bone marrow to produce red cells

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10
Q

What causes ABO incompatibility?

A

Antibodies in recipient’s plasma are directed against donor antigens

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11
Q

In what circumstance is ABO incompatibility usually most severe?

A

Group A blood transfused into Group O recipient

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12
Q

What are the consequences of ABO incompatibility?

A

○ Haemolysis
DIC
Renal failure
Possible complement mediated cardiovascular collapse

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13
Q

How does a TRALI present?

A

Acute SOB and non productive cough

Bilateral infiltrates on CXR

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14
Q

What causes TRALI?

A

Donor antibodies reaction with recipient’s leucocytes

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15
Q

What causes a non-haemolytic febrile transfusion reaction?

A

production of cytokines by donor leucytes in the transfused blood, or interaction between leucocyte and anti-leucocyte antibodies in the recipient

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16
Q

Which blood product is usually the culprit in a non-haemolytic febrile reaction?

A

Platelets

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17
Q

What are the symptoms of a non-haemolytic febrile transfusion reaction?

A

Fever
Chills
Rigors

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18
Q

What counts as a massive transfusion?

A

replacement of more than half of patient’s blood volume at once, or entire blood volume within 24h

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19
Q

What are the features of a massive transfusion reaction?

A 
Coagulopathy
Volume overload
Hypothermia
Hypokalaemia
Hypocalcaemia
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20
Q

What is the defect in sickle cell disease?

A

HbS, forms due a point mutation in codon 6 of the beta globin gene (glutamine changes to valine)
HbS is insoluble and forms crystals when exposed to low oxygen tension

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21
Q

What are the four main types of sickle cell disease?

A

Sickle cell anaemia (HbSS) - homozygous
HbSC disease - HbC is due to a different point Sickle beta talassaemia - HbS from one parent, and beta thal trait from the other, similar symptoms to HbSS
Sickle trait: heterozygous, usually asymptomatic

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22
Q

What are the possible complications of sickle cell disease?

A 
Splenic or liver sequestration
Infection
Cerebrovascular accidents
Kidney disease
 Lung disease
Eye disease e.g. proliferative retinopathy
Crises: painful or infarctive
Priapism
Limb effects including osteomyelitis and aseptic necrosis
Leg ulcers
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23
Q

How is sickle cell disease managed?

A

Penicillin V prophylaxis against encapsulated organisms e.g. strep pneumoniae and Hib
Immunisation
Folic acid
Hydroxyurea for some - cytotoxic which increases the concentration of HbF
Bone marrow transplant in most severely affected children

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24
Q

Why should sickle cell patients have periodic eye checks?

A

For proliferative retinopathy

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25
Q

What are the two main types of beta thalassaemia?

A

§ Major: HbA cannot be produced because of the abnormal beta globin gene
Intermedia: milder, small amount of HbA and/or HbF can be produced

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26
Q

What are the clinical features of beta thalassaemia?

A

Severe anaemia
Failure to thrive
Extramedullary haemopoiesis, which can cause hepatosplenomegaly and bone marrow expansion

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27
Q

How is beta thalassaemia managed?

A

Monthly blood transfusion
Iron chelation with desferrioxamine SC or oral
Bone marrow transplant is the only cure

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28
Q

What is the defect in alpha thalassaemia?

A

Alpha globin - usually there are 4 globin genes and any number of them can be defective

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29
Q

What are the three main types of alpha thalassaemia?

A

Major/Hb Barts (deletion of all 4 chains)
HbH (deletion of 3)
Trait (deletion of 1 or 2)

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30
Q

What is the management in alpha thalassaemia major?

A

Needs monthly intrauterine transfusions and lifelong monthly transfusion for any chance of survival

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31
Q

How severe is HbH?

A

Mild-moderate; may be transfusion dependent

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32
Q

How severe is alpha thalassaemia trait?

A

Usually asymptomatic

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33
Q

What are some causes of non-midline neck lumps?

A 
Branchial cyst
Cystic hygroma
Vascular tumours
Sternomastoid tumour
Recurrent parotitis with sialectitis
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34
Q

What are the causes of a midline neck lump?

A

Thyroglossal cyst
Ectopic thyroid
Dermoid cyst

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35
Q

What are the features of branchial cysts and how are they managed?

A

Transilluminates, fluid filled

Can get infected, so are excised

36
Q

What are the features of a cystic hygroma?

A

○ Macrocystic lymphatic malformation
Can be simple or complex; complex ones can infiltrate local structures and cause airway obstruction
Usually anterior triangle, transilluminate, fluctuant

37
Q

What is an example of a vascular neck tumour?

A

Haemangioma

38
Q

What is a particular feature of a vascular neck tumour?

A

Can have a thrill or bruit

39
Q

What are the features of a sternomastoid tumour?

A

Only in neonates
Non-tender and very firm
Can be associated with angulation of the head

40
Q

What are the features of a sialectitis due to recurrent parotitis?

A

Young children affected

Episodic swelling and pus from parotid gland

41
Q

What are the features of a thyroglossal cyst?

A

Cyst moves up with the tongue is protruded
Moves with swallowing
Often close to the hyoid bone

42
Q

What should you inspect for when there is an ectopic thyroid?

A

A lingual thyroid

43
Q

What are the features of a dermoid neck cyst?

A

Do not transilluminate as they are filled with sebaceous fluid
No not move with swallowing or tongue protrusion

44
Q

How is Fanconi anaemia inherited?

A

AR

45
Q

What are the associated congenital anomalies with Fanconi anaemia?

A 
Short stature
Abnormal radii and thumbs
Renal malformations
Microphthalmia
Pigmented skin lesions
46
Q

When does Fanconi anaemia usually present?

A

5-6 years

47
Q

How can Fanconi anaemia be diagnosed before the anaemia?

A

demonstrating increased chromosomal breakage of peripheral blood lymphocytes

48
Q

What is the prognosis in Fanconi anaemia?

A

High risk of death from bone marrow failure or transformation to acute leukaemia

49
Q

How is Fanconi anaemia managed?

A

BMT

50
Q

What is the defect in Fanconi anaemia?

A

Inability to repair DNA damage, leading to bone marrow failure and pancytopenia

51
Q

How is Schwachman-Diamond inherited?

A

AR

52
Q

What are the characteristics of Schwachman-Diamond?

A

Bone marrow failure
Signs of pancreatic exocrine failure
Skeletal abnormalities

53
Q

What is the defect in Schwachman-Diamond?

A

Mutation in SBDS gene

54
Q

What is the most common haematological problem in Schwachman-Diamond?

A

Isolated neutropenia or mild pancytopenia

55
Q

What is the possible consequence of Schwachman-Diamond?

A

Risk of transforming to acute leukaemia

56
Q

How is haemophilia inherited?

A

X-linked recessive
2/3 have family history
1/3 sporadic

57
Q

What are the defects in haemophilia A and B?

A 
A = factor VIII deficiency
B = factor IX deficiency
58
Q

What are the clinical features of haemophilia?

A

Depends on % of normal factor:
Severe disease (<1%): recurrent spontaneous bleeding into joints and muscles
Moderate (1-5%): bleeding after minor trauma
Mild(>5-40%): bleeding after surgery

59
Q

What will a coagulation screen show in haemophilia?

A

Tests: prolonged APTT, low factor levels - all else normal

60
Q

How is haemophilia managed?

A

Recombinant factor where there is bleeding

Desmopressin in mild haemophilia (stimulates endogenous release of factor VIII and vWF)

61
Q

What does vWF do?

A

Facilitates platelet adhesion to damaged endothelium

Acts as carrier protein for factor VIII, protecting it from inactivation and clearance

62
Q

What is the defect in von Willebrand disease?

A

Quantitative or qualitative deficiency of vWF

63
Q

How is vWD inherited?

A

Usually AD

64
Q

What are the clinical features of vWD?

A

Bruising
Excessive, prolonged bleeding after surgery
Mucosal bleeding e.g. epistaxis and menorrhagia
Uncommon to have joint or muscle bleeding like in haemophilia

65
Q

What are the three main types of vWD?

A

1: most common, partial deficiency of vWF
2: abnormal function of vWF
3: complete absence of vWF

66
Q

What will the clotting screen show in vWD?

A

Normal PT
Prolonged or normal APTT
Low or normal factor VIII

67
Q

How is vWD managed?

A

Depends on type and severity
DDAVP
Most severe types may need FVIII concentrate

68
Q

What is the commonest cause of thrombocytopenia in children?

A

ITP

69
Q

What is the pathophysiology of ITP?

A

Usually caused by destruction of platelets by anti-platelet IgG
May have compensatory increase of megakaryocytes in the bone marrow

70
Q

Who gets ITP?

A

Usually presents between 2 and 10 years, 1-2 weeks after a viral infection

71
Q

What are the clinical features of ITP?

A

Petechiae or purpura
Superficial bruising
Can cause epistaxis or mucosal bleeding
Profuse bleeding is uncommon

72
Q

How is ITP diagnosed?

A

Diagnosis of exclusion

Bone marrow examination should be done if the child will be treated with steroids, as this could mask ALL

73
Q

What is the prognosis in ITP?

A

Usually acute, benign and self limiting within 6-8 weeks

74
Q

How is ITP managed?

A

Most children don’t need treating unless there is evidence of bleeding that is serious or affecting daily activities, can include: Oral prednisolone, Intravenous anti D, IVIG
Platelet transfusion is reserved for life threatening haemorrhage as it only raises the platelet count for a few hours
Avoid trauma and contact sports

75
Q

What is chronic ITP?

A

When Plt remains low 6 months after diagnosis

76
Q

How is chronic ITP managed?

A

Treatment is supportive
Specialist care is needed for the rare cases with significant bleeding, which may include rituximab or thrombopoietic growth factors

77
Q

What is the pathophysiology of DIC?

A

Coagulation pathway activation leads to diffuse fibrin deposition in the microvasculature and consumption of coagulation factors and platelets

78
Q

What are the causes of DIC?

A

Severe sepsis
Shock
Can be acute or chronic

79
Q

What lab features should make you think of DIC?

A 
Thrombocytopenia
Prolonged PT and APTT
Low fibrinogen
Raised fibrinogen degradation products
Raised D dimer
Microangiopathic haemolytic anaemia
Usually a marked reduction in protein C and S
80
Q

How is DIC managed?

A

Treat the underlying cause

May need FFP, cryoprecipitate and platelets

81
Q

What are the most common inherited thrombotic disorders?

A 
Protein C deficiency
Protein S deficiency
Antithrombin deficiency
Factor V Leiden
Prothrombin gene G20210A mutation
82
Q

What do protein C and S do?

A

Both natural anticoagulants

83
Q

How are protein C and S deficiencies inherited and how does this affect the clinical picture?

A

AD
Heterozygotes are also predisposed to thrombosis
Homozygotes are very rare and present with life threatening thrombosis with widespread haemorrhage and purpura fulminans in the neonatal period

84
Q

What is factor V Leiden?

A

inherited abnormality in coagulation protein factor V, which makes it resistant to degradation by activated protein C.

85
Q

What are the acquired causes of thrombosis?

A 
Catheter-related
DIC
Hypernatraemia
Polycythaemia
Malignancy
SLE

MRCPCH Clinicals (17 decks)

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