B Lecture 2: Haematological Changes in Systemic Disease & Introduction to Leukaemia and Lymphoma Diagnosis Flashcards

1
Q

What disease is characterised by primary raised erythrocytes?

A

Polycythaemia vera

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2
Q

What disease is characterised by a secondary reduction in erythrocytes?

A

Auto-immune haemolytic anaemia

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3
Q

Which disease is caused by a genetic deficiency of factor IX?

A

Haemophilia B

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4
Q

Which disease is caused by a genetic excess of factor IX?

A

Factor IX Padua

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5
Q

Which disease is caused by a genetic deficiency of erythrocytes?

A

Sickle cell disease/ HbS (beta globin gene mutation)

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6
Q

How can haemophilia B be treated using gene therapy?

A

Factor IX Padua gene can be put into adenoviruses as a vector, to cause factor IX production

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7
Q

Which disease is caused by an acquired mutation in JAK2?

A

Polycythaemia vera

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8
Q

Which disease is caused by an acquired mutation in PIG A?

A

PNH paroxysmal nocturnal haemoglobinuria

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9
Q

What is a raised factor VIII likely to be secondary to?

A

An inflammatory process

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10
Q

How can haemophilia be acquired? (Rather than genetic)

A

Auto-immune disorder common in elderly - body produces autoantibodies directed against factor VIII

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11
Q

Recall 2 secondary causes of raised erythrocytes?

A

AltitudeEPO-secreting tumour

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12
Q

Recall 3 secondary causes of reduced erythrocytes

A

Bone marrow inflitrationDeficiency (B12/Fe) Haemolytic anaemia

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13
Q

What is the most likely cause of iron deficiency anaemia?

A

Bleeding (until proven otherwise!)

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14
Q

How is iron deficiency anaemia diagnosed?

A

Ferritin and transferrin saturation: both would be low

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15
Q

Recall 3 types of cancer that may present first with an iron deficiency anaemia?

A

GastricRenalBladder

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16
Q

What are the morphological features of leuco-erythroblastic anaemia?

A

Erythroblasts (nucleated red blood cells and tear drop red blood cells) Immature myeloid cells

17
Q

What are the causes of leucoerythroblastic anaemia?

A

Infection: miliary TB/severe fungal infectionMalignancy: myelofibrosis/ leukaemia/lymphoma/myeloma/ metastatic CaUSUALLY A MALIGNANCY INVOLVING BM

18
Q

What are the laboratory features of haemolytic anaemia?

A

Anaemia (though may be compensated)ReticulocytosisUnconjugated hyperbilirubinaemiaLDH raised Reduced haptoglobins

19
Q

Which test detects immune haemolytic anaemia?

A

DAT/Coombs

20
Q

Recall 2 malignancies that can cause immune haemolytic anaemia?

A

LymphomaCLL

21
Q

What type of anaemia is caused by mycoplasma infection?

A

Immune haemolytic anaemia

22
Q

What are the 2 main causes of non-immune/ Dat neg haemolytic anaemia?

A
  1. Malaria2. MAHA - microangiopathic haemolytic anaemia
23
Q

Recall 2 causes of MAHA

A
  1. Underlying adenocarcinoma2. Haemolytic uraemic syndrome
24
Q

How can CLL and AML be distinguished on blood film?

A

CLL has mature cells, AML has immature cells

25
Q

What is the main cause of neutrophilia?

A

Pyogenic infection

26
Q

How do you distinguish a reactive neutrophilia vs a malignant one?

A

Reactive neutrophilia has a limit (they won’t be sky high) No immature cells in reactive neutrophiliaMalignant hasimmature cells + either basophils (indicative of CML) or myeloblasts (indicative of AML)

27
Q

What is the most common cause of a reactive lymphopaenia?

A

HIV

28
Q

In which 2 conditions might smear cells appear on the blood film?

A

CLLNon-Hodgkins lymphoma

29
Q

Name 2 primary causes of haemolytic anaemia

A

Any of: Hereditary spherocytosisG6PD deficiencySickle cellThalassaemia

30
Q

How can DIC cause MAHA?

A

Procoagulant factors releasedIn places where blood moves slowly (eg small vasculature) there is platelet deposition and fibrinogen is converted to fibrin Red cells pushed through fibrin web and fragmented

31
Q

How is B cell clonality determined?

A

Look for light chain restriction - the ratio of kappa and lambda (60:40 would be reactive, 99:1 would be malignant)

32
Q

Recall 2 tests that can determine immunophenotype in blood malignancies, and one use of knowing this info?

A

Flow cytometryImmunohistologyUse: working out if T or B lineage, working out if myeloid or lymphoid

33
Q

Recall 2 tests that can determine cytogenetics in blood malignancies and one use of knowing this info?

A

TranslocationsFISH studies Use: Philadelphia chromosome identification

34
Q

Recall 2 tests that can determine molecular genetics in blood malignancies and one use of knowing this info?

A

PCRPyro sequencingUse: Detect JAK2 mutation, or BCR ABL cDNA