B Lecture 2: Haematological Changes in Systemic Disease & Introduction to Leukaemia and Lymphoma Diagnosis Flashcards
What disease is characterised by primary raised erythrocytes?
Polycythaemia vera
What disease is characterised by a secondary reduction in erythrocytes?
Auto-immune haemolytic anaemia
Which disease is caused by a genetic deficiency of factor IX?
Haemophilia B
Which disease is caused by a genetic excess of factor IX?
Factor IX Padua
Which disease is caused by a genetic deficiency of erythrocytes?
Sickle cell disease/ HbS (beta globin gene mutation)
How can haemophilia B be treated using gene therapy?
Factor IX Padua gene can be put into adenoviruses as a vector, to cause factor IX production
Which disease is caused by an acquired mutation in JAK2?
Polycythaemia vera
Which disease is caused by an acquired mutation in PIG A?
PNH paroxysmal nocturnal haemoglobinuria
What is a raised factor VIII likely to be secondary to?
An inflammatory process
How can haemophilia be acquired? (Rather than genetic)
Auto-immune disorder common in elderly - body produces autoantibodies directed against factor VIII
Recall 2 secondary causes of raised erythrocytes?
AltitudeEPO-secreting tumour
Recall 3 secondary causes of reduced erythrocytes
Bone marrow inflitrationDeficiency (B12/Fe) Haemolytic anaemia
What is the most likely cause of iron deficiency anaemia?
Bleeding (until proven otherwise!)
How is iron deficiency anaemia diagnosed?
Ferritin and transferrin saturation: both would be low
Recall 3 types of cancer that may present first with an iron deficiency anaemia?
GastricRenalBladder
What are the morphological features of leuco-erythroblastic anaemia?
Erythroblasts (nucleated red blood cells and tear drop red blood cells) Immature myeloid cells
What are the causes of leucoerythroblastic anaemia?
Infection: miliary TB/severe fungal infectionMalignancy: myelofibrosis/ leukaemia/lymphoma/myeloma/ metastatic CaUSUALLY A MALIGNANCY INVOLVING BM
What are the laboratory features of haemolytic anaemia?
Anaemia (though may be compensated)ReticulocytosisUnconjugated hyperbilirubinaemiaLDH raised Reduced haptoglobins
Which test detects immune haemolytic anaemia?
DAT/Coombs
Recall 2 malignancies that can cause immune haemolytic anaemia?
LymphomaCLL
What type of anaemia is caused by mycoplasma infection?
Immune haemolytic anaemia
What are the 2 main causes of non-immune/ Dat neg haemolytic anaemia?
- Malaria2. MAHA - microangiopathic haemolytic anaemia
Recall 2 causes of MAHA
- Underlying adenocarcinoma2. Haemolytic uraemic syndrome
How can CLL and AML be distinguished on blood film?
CLL has mature cells, AML has immature cells
What is the main cause of neutrophilia?
Pyogenic infection
How do you distinguish a reactive neutrophilia vs a malignant one?
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)
What is the most common cause of a reactive lymphopaenia?
HIV
In which 2 conditions might smear cells appear on the blood film?
CLLNon-Hodgkins lymphoma
Name 2 primary causes of haemolytic anaemia
Any of: Hereditary spherocytosisG6PD deficiencySickle cellThalassaemia
How can DIC cause MAHA?
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
How is B cell clonality determined?
Look for light chain restriction - the ratio of kappa and lambda (60:40 would be reactive, 99:1 would be malignant)
Recall 2 tests that can determine immunophenotype in blood malignancies, and one use of knowing this info?
Flow cytometryImmunohistologyUse: working out if T or B lineage, working out if myeloid or lymphoid
Recall 2 tests that can determine cytogenetics in blood malignancies and one use of knowing this info?
TranslocationsFISH studies Use: Philadelphia chromosome identification
Recall 2 tests that can determine molecular genetics in blood malignancies and one use of knowing this info?
PCRPyro sequencingUse: Detect JAK2 mutation, or BCR ABL cDNA
