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Haematology > Haematology in systemic disease and intro to haematopathology > Flashcards

Haematology in systemic disease and intro to haematopathology Flashcards

1
Q

Pathophsyiolog of leukoerythroblastic anaemia vs haemolytic anaemia

A

LEB: bone marrow is infiltrated so RBC production problem

Haemolytic anaemia: shortened RBC survival probelm

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2
Q

What disease is characterised by primary raised erythrocytes?

A

Polycythaemia vera

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3
Q

What disease is characterised by a secondary reduction in erythrocytes?

A

Auto-immune haemolytic anaemia

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4
Q

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

A

Haemophilia B

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5
Q

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

A

Factor IX Padua

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6
Q

Which disease is caused by a genetic deficiency of erythrocytes?

A

Sickle cell disease/ HbS (beta globin gene mutation)

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7
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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8
Q

Which disease is caused by an acquired mutation in JAK2?

A

Polycythaemia vera

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9
Q

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

A

PNH paroxysmal nocturnal haemoglobinuria

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10
Q

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

A

An inflammatory process

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11
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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12
Q

Recall 2 secondary causes of raised erythrocytes?

A

Altitude
EPO-secreting tumour

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13
Q

Recall 3 secondary causes of reduced erythrocytes

A

Bone marrow inflitration
Deficiency (B12/Fe)
Haemolytic anaemia

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14
Q

What is the most likely cause of iron deficiency anaemia?

A

Bleeding (until proven otherwise!)

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15
Q

How is iron deficiency anaemia diagnosed?

A

Ferritin and transferrin saturation: both would be low

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16
Q

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

A

Gastric
Renal
Bladder

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17
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

this is seen in the circulation where it is abnormal (rather than in bone marrow where it is normal)

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18
Q

What are the causes of leucoerythroblastic anaemia?

A

Suggests bone marrow infiltration

a) Infection: miliary TB/severe fungal infection
b) Malignancy:

i) haemoatological: myelofibrosis/ leukaemia/lymphoma/myeloma/ ii) metastatic Ca
USUALLY A MALIGNANCY INVOLVING BM

**need to do a bone marrow biopsy to distinguish**

(if you see dry tap - myelofibrosis)

19
Q

What are the laboratory features of haemolytic anaemia?

Broad classification of haemolytic anaemia

A

Anaemia (though may be compensated)

Reticulocytosis

Unconjugated hyperbilirubinaemia

LDH raised

Reduced haptoglobins

Classification:

a) inherited
b) acquired-
i) immune- infection (eg mycoplasma), malignancy (eg CLL, leukaemia), autoimmune (SLE), idiopathic
ii) non-immune - MAHA, malaria

20
Q

Which test detects immune haemolytic anaemia?

A

DAT/Coombs

21
Q

Recall 2 malignancies that can cause immune haemolytic anaemia?

A

Lymphoma
CLL

You get antibody formation against RBCs

22
Q

What type of anaemia is caused by mycoplasma infection?

A

Immune haemolytic anaemia

**NB NOT non-immune

23
Q

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

A
  1. Malaria
  2. MAHA - microangiopathic haemolytic anaemia
24
Q

Recall 2 causes of MAHA

A
  1. Underlying adenocarcinoma
  2. Haemolytic uraemic syndrome
25
Q

How to distinguish between immune mediated vs MAHA on blood film?

A

Immune mediated: spherocytes

MAHA: no spherocytes, red cell fragments

26
Q

How can CLL and AML be distinguished on blood film?

A

CLL has mature cells, AML has immature cells

27
Q

What is the main cause of neutrophilia?

A

Pyogenic infection

28
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 neutrophilia

Reactive neurtophilia will have toxic granulation and vacuoles

Malignant has immature cells + either basophils (indicative of CML) or myeloblasts (indicative of AML)

*rmb in CML you see mature cells while in AML you see immature cells

29
Q

Causes of eosinophilia

A
30
Q

Causes of monocytosis

A
31
Q

Causes of lymphocytosis and lymphopenia

–>which is the most common cause of lymphopenia?

A

HIV is the most common cause of reactive lymphopenia

32
Q

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

A

CLL
Non-Hodgkins lymphoma

33
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)

34
Q

Name 2 primary causes of haemolytic anaemia

A

Any of:
Hereditary spherocytosis
G6PD deficiency
Sickle cell
Thalassaemia

35
Q

How can DIC cause MAHA?

A

Procoagulant factors released

In 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

36
Q

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

A

Flow cytometry
Immunohistology
Use: working out if T or B lineage, working out if myeloid or lymphoid

37
Q

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

A

Translocations
FISH studies
Use: Philadelphia chromosome identification

38
Q

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

A

PCR
Pyro sequencing
Use: Detect JAK2 mutation, or BCR ABL cDNA

39
Q

What is the basic difference between chronic myeloid and acute myeloid neoplasms?

A

In chronic leukaemia you get increased proliferation of cells but differentiation is normal

In acute leukaemia you get both increased prolfieration and blocked differentiation

40
Q

generally what type of mutations are involcved in myeloid vs lymphoid malignancies?

A

Myeloid:

a) proliferation genes eg JAK2, BCR-ABL
b) block differentiation genes eg PML-RARA in APML

Lymphoid:

proliferation+differentiation+

c) mutations in apoptotic genes eg BCL2 and follicular lymphoma

41
Q

How to differentiate between immature and mature B cell malignancies?

A
  1. Immature (e.g. acute b cell lymphoblastic lymphoma)

TDT +ve

surface immunoglobulin negative

CD19 +ve

  1. Mature (i.e. multiple myeloma)

TDT -ve

Surface Ig positive

CD138 positive

42
Q
A
43
Q

What are the causes of lymphocytosis: mature cells vs immature cells?

A

1) Mature lymphocytes in peripheral blood:

  • Reactive/ atypical lymphocytes
    • infectious mononucleosis
  • Small lymphocytes and smear cells
    • glandular fever or CLL/ NHL

2) Immature lymphoid cells in peripheral blood:

Lymphoblasts - Acute Lymphoblastic Leukaemia- ALL

44
Q

What marker is indicative of plasma cells?

A

CD138

Haematology (16 decks)

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