Blood films, biopsy signs, gene defecits Flashcards Preview

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Flashcards in Blood films, biopsy signs, gene defecits Deck (40):
1

Target cells

Haemoglobinopathies
IDA
Hyposplenism
Liver disease

2

Tear-drop poikilocytes

Myelofibrosis

3

Spherocytes

Hereditary spherocytosis,
Lead poisoning
Thalassaemia
Sideroblastic anaemia
Myelodysplasia

4

Howell-Jolly Bodies

Hyposplenism

5

Heinz Bodies

G6PD deficiency
Alpha-thalassaemia

6

Schistocytes ("helmet cells")

Microangiopathic haemolytic anaemia

eg: Mechanical heart valve, DIC, HUS, TTP, PET

7

Pencil poikilocytes

IDA

8

Burr cells (echinocytes)

Uraemia
Pyruvate kinase deficiency

9

Acanthocytes/spur/spike cells

abetalipoproteinaemia
liver dysfunction, hyposplenism

10

leukoerythroblastic anaemia

Nucleated RBCs and primitive WBCs
Caused by marrow infiltration ie myelofibrosis or malignancy

11

Pelger Huet cell

a hyposegmented neutrophil. Caused by myelodysplastic syndromes

12

Polychromasia (sign of reticulocytes)

Premature/inapropriate release from BM eg haemolytic anaemia

13

Right shift

means hypermature white cells.
Caused by megaloblastic anaemia, uraemia, liver disease

14

Roleaux formation

Red cell stacks. Caused by chronic inflammation, paraproteinemia, myeloma (bence-jones protein)

15

Raised WCC, >20% immature blasts. Child

ALL

16

Auer rods

AML

17

Raised WCC, Spectrum of mature and immature granulocytes on film
Presence of BCR-ABL on PCR

CML
BCR-ABL is oncogene formed by (9:22) translocation which forms the Philadelphia chromosome

Chronic phase: 10% blasts. Response to therapy dropping
Blast phase: >20% blasts. Treat with chemo, supportive blood products, consider BMT

18

High WBC, lymphocytosis (>5)
Smear Cells

CLL (smr cll)

Can progress to DLBCL

19

Pel-Ebstein fever (cyclical 1-2wks),
Reed-Sterberg cells

Hodgkins Lymphoma
Ann arbor staging

20

Owl's eye appearance inclusion bodies

cytomegalovirus

21

EBV associated, 'Starry sky appearance'

Burkitts lymphoma.
Non-EBV assoc in HIV or post-transplant patients
Give rituximab for anti-CD20 (B cells)

22

Sheets of large lymphoid cells

DLBCL
Rituximab, transplant

23

Angular nuclei

Mantle cell lymphoma

24

JAK2 mutation

polycythemia vera, myelofibrosis or esssential thrombocytosis

25

Absent MHC class 2

Bare lymphocyte deficiency type 2 (more common)
absence of CD4 cells

26

22q11

DiGeorges syndrome

27

X-linked tyrosine kinase defect (BTK gene)

brutons agammaglobulinaemia

28

CD40L

Hyper IgM

29

X-linked IL2 receptor defect

SCID

30

HAX-1

Kostmann

31

deficiency of beta2 intergrin subunit (CD18)

leukocyte adhesion deficiency

32

NADPH oxidase defect

chronic granulomatous disease

33

alkylates guanine base of DNA, affects B>Tcells

cyclophosphamide

34

Anti-CD20. decreases B cells

rituximab

35

inhibits dihydrofolate reductase

methotrexate. Give folate supplements

36

Inhibits IL2

tacrolimus and ciclosporin

37

inhibits phospholipase A2

prednisolone

38

binds to TNFalpha

infliximab and adalimumab (Humira)

39

binds to IL12 and IL23

Ustekinumab

40

metabolised to 6-mercaptopurine in the liver

azathioprine