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MRCPCH Clinicals > Haematology > Flashcards

Haematology Flashcards

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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
What are the two main types of beta thalassaemia?
§ Major: HbA cannot be produced because of the abnormal beta globin gene Intermedia: milder, small amount of HbA and/or HbF can be produced
26
What are the clinical features of beta thalassaemia?
Severe anaemia Failure to thrive Extramedullary haemopoiesis, which can cause hepatosplenomegaly and bone marrow expansion
27
How is beta thalassaemia managed?
Monthly blood transfusion Iron chelation with desferrioxamine SC or oral Bone marrow transplant is the only cure
28
What is the defect in alpha thalassaemia?
Alpha globin - usually there are 4 globin genes and any number of them can be defective
29
What are the three main types of alpha thalassaemia?
Major/Hb Barts (deletion of all 4 chains) HbH (deletion of 3) Trait (deletion of 1 or 2)
30
What is the management in alpha thalassaemia major?
Needs monthly intrauterine transfusions and lifelong monthly transfusion for any chance of survival
31
How severe is HbH?
Mild-moderate; may be transfusion dependent
32
How severe is alpha thalassaemia trait?
Usually asymptomatic
33
What are some causes of non-midline neck lumps?
``` Branchial cyst Cystic hygroma Vascular tumours Sternomastoid tumour Recurrent parotitis with sialectitis ```
34
What are the causes of a midline neck lump?
Thyroglossal cyst Ectopic thyroid Dermoid cyst
35
What are the features of branchial cysts and how are they managed?
Transilluminates, fluid filled | Can get infected, so are excised
36
What are the features of a cystic hygroma?
○ Macrocystic lymphatic malformation Can be simple or complex; complex ones can infiltrate local structures and cause airway obstruction Usually anterior triangle, transilluminate, fluctuant
37
What is an example of a vascular neck tumour?
Haemangioma
38
What is a particular feature of a vascular neck tumour?
Can have a thrill or bruit
39
What are the features of a sternomastoid tumour?
Only in neonates Non-tender and very firm Can be associated with angulation of the head
40
What are the features of a sialectitis due to recurrent parotitis?
Young children affected | Episodic swelling and pus from parotid gland
41
What are the features of a thyroglossal cyst?
Cyst moves up with the tongue is protruded Moves with swallowing Often close to the hyoid bone
42
What should you inspect for when there is an ectopic thyroid?
A lingual thyroid
43
What are the features of a dermoid neck cyst?
Do not transilluminate as they are filled with sebaceous fluid No not move with swallowing or tongue protrusion
44
How is Fanconi anaemia inherited?
AR
45
What are the associated congenital anomalies with Fanconi anaemia?
``` Short stature Abnormal radii and thumbs Renal malformations Microphthalmia Pigmented skin lesions ```
46
When does Fanconi anaemia usually present?
5-6 years
47
How can Fanconi anaemia be diagnosed before the anaemia?
demonstrating increased chromosomal breakage of peripheral blood lymphocytes
48
What is the prognosis in Fanconi anaemia?
High risk of death from bone marrow failure or transformation to acute leukaemia
49
How is Fanconi anaemia managed?
BMT
50
What is the defect in Fanconi anaemia?
Inability to repair DNA damage, leading to bone marrow failure and pancytopenia
51
How is Schwachman-Diamond inherited?
AR
52
What are the characteristics of Schwachman-Diamond?
Bone marrow failure Signs of pancreatic exocrine failure Skeletal abnormalities
53
What is the defect in Schwachman-Diamond?
Mutation in SBDS gene
54
What is the most common haematological problem in Schwachman-Diamond?
Isolated neutropenia or mild pancytopenia
55
What is the possible consequence of Schwachman-Diamond?
Risk of transforming to acute leukaemia
56
How is haemophilia inherited?
X-linked recessive 2/3 have family history 1/3 sporadic
57
What are the defects in haemophilia A and B?
``` A = factor VIII deficiency B = factor IX deficiency ```
58
What are the clinical features of haemophilia?
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
What will a coagulation screen show in haemophilia?
Tests: prolonged APTT, low factor levels - all else normal
60
How is haemophilia managed?
Recombinant factor where there is bleeding | Desmopressin in mild haemophilia (stimulates endogenous release of factor VIII and vWF)
61
What does vWF do?
Facilitates platelet adhesion to damaged endothelium | Acts as carrier protein for factor VIII, protecting it from inactivation and clearance
62
What is the defect in von Willebrand disease?
Quantitative or qualitative deficiency of vWF
63
How is vWD inherited?
Usually AD
64
What are the clinical features of vWD?
Bruising Excessive, prolonged bleeding after surgery Mucosal bleeding e.g. epistaxis and menorrhagia Uncommon to have joint or muscle bleeding like in haemophilia
65
What are the three main types of vWD?
1: most common, partial deficiency of vWF 2: abnormal function of vWF 3: complete absence of vWF
66
What will the clotting screen show in vWD?
Normal PT Prolonged or normal APTT Low or normal factor VIII
67
How is vWD managed?
Depends on type and severity DDAVP Most severe types may need FVIII concentrate
68
What is the commonest cause of thrombocytopenia in children?
ITP
69
What is the pathophysiology of ITP?
Usually caused by destruction of platelets by anti-platelet IgG May have compensatory increase of megakaryocytes in the bone marrow
70
Who gets ITP?
Usually presents between 2 and 10 years, 1-2 weeks after a viral infection
71
What are the clinical features of ITP?
Petechiae or purpura Superficial bruising Can cause epistaxis or mucosal bleeding Profuse bleeding is uncommon
72
How is ITP diagnosed?
Diagnosis of exclusion | Bone marrow examination should be done if the child will be treated with steroids, as this could mask ALL
73
What is the prognosis in ITP?
Usually acute, benign and self limiting within 6-8 weeks
74
How is ITP managed?
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
What is chronic ITP?
When Plt remains low 6 months after diagnosis
76
How is chronic ITP managed?
Treatment is supportive Specialist care is needed for the rare cases with significant bleeding, which may include rituximab or thrombopoietic growth factors
77
What is the pathophysiology of DIC?
Coagulation pathway activation leads to diffuse fibrin deposition in the microvasculature and consumption of coagulation factors and platelets
78
What are the causes of DIC?
Severe sepsis Shock Can be acute or chronic
79
What lab features should make you think of DIC?
``` 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
How is DIC managed?
Treat the underlying cause | May need FFP, cryoprecipitate and platelets
81
What are the most common inherited thrombotic disorders?
``` Protein C deficiency Protein S deficiency Antithrombin deficiency Factor V Leiden Prothrombin gene G20210A mutation ```
82
What do protein C and S do?
Both natural anticoagulants
83
How are protein C and S deficiencies inherited and how does this affect the clinical picture?
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
What is factor V Leiden?
inherited abnormality in coagulation protein factor V, which makes it resistant to degradation by activated protein C.
85
What are the acquired causes of thrombosis?
``` Catheter-related DIC Hypernatraemia Polycythaemia Malignancy SLE ```

MRCPCH Clinicals (17 decks)

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