Blood films, biopsy signs, gene defecits

Question 1

Target cells

Answer 1

Haemoglobinopathies
IDA
Hyposplenism
Liver disease

Question 2

Tear-drop poikilocytes

Answer 2

Myelofibrosis

Question 3

Spherocytes

Answer 3

Hereditary spherocytosis,
Lead poisoning
Thalassaemia
Sideroblastic anaemia
Myelodysplasia

Question 4

Howell-Jolly Bodies

Answer 4

Hyposplenism

Question 5

Heinz Bodies

Answer 5

G6PD deficiency

Alpha-thalassaemia

Question 6

Schistocytes (“helmet cells”)

Answer 6

Microangiopathic haemolytic anaemia

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

Question 7

Pencil poikilocytes

Answer 7

IDA

Question 8

Burr cells (echinocytes)

Answer 8

Uraemia

Pyruvate kinase deficiency

Question 9

Acanthocytes/spur/spike cells

Answer 9

abetalipoproteinaemia

liver dysfunction, hyposplenism

Question 10

leukoerythroblastic anaemia

Answer 10

Nucleated RBCs and primitive WBCs

Caused by marrow infiltration ie myelofibrosis or malignancy

Question 11

Pelger Huet cell

Answer 11

a hyposegmented neutrophil. Caused by myelodysplastic syndromes

Question 12

Polychromasia (sign of reticulocytes)

Answer 12

Premature/inapropriate release from BM eg haemolytic anaemia

Question 13

Right shift

Answer 13

means hypermature white cells.

Caused by megaloblastic anaemia, uraemia, liver disease

Question 14

Roleaux formation

Answer 14

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

Question 15

Raised WCC, >20% immature blasts. Child

Answer 15

ALL

Question 16

Auer rods

Answer 16

AML

Question 17

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

Answer 17

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

Question 18

High WBC, lymphocytosis (>5)

Smear Cells

Answer 18

CLL (smr cll)

Can progress to DLBCL

Question 19

Pel-Ebstein fever (cyclical 1-2wks),

Reed-Sterberg cells

Answer 19

Hodgkins Lymphoma

Ann arbor staging

Question 20

Owl’s eye appearance inclusion bodies

Answer 20

cytomegalovirus

Question 21

EBV associated, ‘Starry sky appearance’

Answer 21

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

Question 22

Sheets of large lymphoid cells

Answer 22

DLBCL

Rituximab, transplant

Question 23

Angular nuclei

Answer 23

Mantle cell lymphoma

Question 24

JAK2 mutation

Answer 24

polycythemia vera, myelofibrosis or esssential thrombocytosis

Question 25

Absent MHC class 2

Answer 25

Bare lymphocyte deficiency type 2 (more common)

absence of CD4 cells

Question 26

22q11

Answer 26

DiGeorges syndrome

Question 27

X-linked tyrosine kinase defect (BTK gene)

Answer 27

brutons agammaglobulinaemia

Question 28

CD40L

Answer 28

Hyper IgM

Question 29

X-linked IL2 receptor defect

Answer 29

SCID

Question 30

HAX-1

Answer 30

Kostmann

Question 31

deficiency of beta2 intergrin subunit (CD18)

Answer 31

leukocyte adhesion deficiency

Question 32

NADPH oxidase defect

Answer 32

chronic granulomatous disease

Question 33

alkylates guanine base of DNA, affects B>Tcells

Answer 33

cyclophosphamide

Question 34

Anti-CD20. decreases B cells

Answer 34

rituximab

Question 35

inhibits dihydrofolate reductase

Answer 35

methotrexate. Give folate supplements

Question 36

Inhibits IL2

Answer 36

tacrolimus and ciclosporin

Question 37

inhibits phospholipase A2

Answer 37

prednisolone

Question 38

binds to TNFalpha

Answer 38

infliximab and adalimumab (Humira)

Question 39

binds to IL12 and IL23

Answer 39

Ustekinumab

Question 40

metabolised to 6-mercaptopurine in the liver

Answer 40

azathioprine