Haem In Systemic Disease

Question 1

An excess of FIX causes which condition?

Answer 1

FIX Padua -> thrombosis

Question 2

Which gene is implicated in PNH? What is the clinical manifestation?

Answer 2

PIG A Mutation

Chronic acquired anaemia

Question 3

Is polycythaemia vera a primary/secondary disroder?

Answer 3

Primary due to jak2 mutation even though it is a somatic/acquired mutation

Question 4

what are Secondary disorders

Answer 4

Secondary disorders are changes in haematological parameters 2ndry to a non-haematological disease. Generally not DNA mutation based

Question 5

what are the findings on blood parameters ffor aneamia in malignancy?

Answer 5

Microcytic hypochromic anaemia
Reduced ferritin, transferrin saturation
Raised TIBC

Question 6

What is Leuco-erythroblastic anaemia?

Answer 6

(red cell and white cell precursor anaemia)

Teardrop RBCs (+aniso and poikilocytosis)
Nucleated RBCs*
Immature myeloid cells - not wbc

Question 7

If a Lab reports: “Leukoerythroblastic Features” what miust come to mind - dfx?

Answer 7

1. Malignancy involving BM!! :
   Haemopoietic: leukaemia/lymphoma/ myeloma
   Non Haemopoietic: metastatic-breast/ bronchus/prostate

Others:
2. Severe infection:
miliary TB
Severe fungal infection

3. Myelofibrosis

Question 8

what findings would there be in Immune Haemolytic anemia

Answer 8

spherocytes

DAT +ve (Direct antiglobulin or Coombs)

Question 9

what are the types of haemolytic anaemias?

Answer 9

Inherited:
hereditary spherocytosis, g6pd deficiency, thalassaemia

Acquired:
A. Immune: Immunehaemolytic anaemia
B. Non-immune: Malaria, MAHA

Question 10

how do canceres cause haemolytiic anaemia?

Answer 10

Procoagulant factors released into blood
Platelet activation 
Fibrin deposition and degradation
Red cell fragmentation (microangiopathy)
Bleeding (low platelets and coag factor deficiency)

Question 11

What do the following results suggest:

Neutrophilia plus basophilia & immature cells myelocytes.

Answer 11

CML

Question 12

What do the following results suggest:

Neutropenia plus Myeloblasts

Answer 12

suggests acute leukaemia - AML

Question 13

Mature lymphocytosis in the PB is indicative of?

Answer 13

reactive/atypical lymphocytes (IM)

small lymphocytes and smear cells (CLL/NHL)

Question 14

Immature lymphocytosis in the PB is indicative of?

Answer 14

ALL - many blasts

Question 15

how do you know if a B-cell lymphocytosis is reactive or malignant?

Answer 15

Reactive:
Polyclonal
Kappa & Lambda (60:40)

Malignant:
Monoclonal
kappa only or lambda only (99:1)

Question 16

what will the following tests tell me and what do they involve?:

Immunophenotype
Cytogenetics
Molecular genetics

Answer 16

Immunophenotype (flow cytometry or Immunohistology)
myeloid or lymphoid? T or B lineage?
stage of maturation precursor or mature?

Cytogenetics (translocations or FISH studies)
confirm morphology eg Philadelphia Chromosome > CML.
Prognostic information eg 17p del in CLL
t(8;14) activates c-myc oncogene in Burkitt Lymphoma

Molecular genetics (PCR, pyro sequencing)
JAK2 mutation in suspected polycythemia vera
BCR ABL cDNA detection and quantification