Haematology - Haematology in Systemic Disease Flashcards
<p>What disease is characterised by primary raised erythrocytes?</p>
<p>Polycythaemia vera</p>
<p>What disease is characterised by an acquired reduction in erythrocytes?</p>
<p>Auto-immune haemolytic anaemia</p>
<p>Which disease is caused by a genetic deficiency of factor IX?</p>
<p>Haemophilia B</p>
<p>Which disease is caused by a genetic excess of factor IX?</p>
<p>Factor IX Padua</p>
<p>Which disease is caused by a genetic deficiency of erythrocytes?</p>
<p>Sickle cell disease/ HbS (beta globin gene mutation)</p>
<p>How can haemophilia B be treated using gene therapy?</p>
<p>Factor IX Padua gene can be put into adenoviruses as a vector, to cause factor IX production</p>
<p>Which disease is caused by an acquired mutation in JAK2?</p>
<p>Polycythaemia vera</p>
<p>Which disease is caused by an acquired mutation in PIG A?</p>
<p>PNH paroxysmal nocturnal haemoglobinuria<br></br>PIG A = phosphatidylinositol glycan A</p>
<p>What is a raised factor VIII likely to be secondary to?</p>
<p>An inflammatory process</p>
<p>How can haemophilia be acquired? (Rather than genetic)</p>
<p>Auto-immune disorder common in elderly - body produces autoantibodies directed against factor VIII</p>
<p>Recall 2 secondary causes of raised erythrocytes?</p>
<p>Altitude
<br></br>EPO-secreting tumour</p>
<p>Recall 3 secondary causes of reduced erythrocytes</p>
<p>Bone marrow inflitration
<br></br>Deficiency (B12/Fe)
<br></br>Haemolytic anaemia</p>
<p>What is the most likely cause of iron deficiency anaemia?</p>
<p>Bleeding (until proven otherwise!)</p>
<p>How is iron deficiency anaemia diagnosed?</p>
<p>Ferritin and transferrin saturation: both would be low</p>
TIBC high
<p>Recall 3 types of cancer that may present first with an iron deficiency anaemia?</p>
<p>Gastric
<br></br>Renal
<br></br>Bladder</p>
<p>What are 3 morphological features of leuco-erythroblastic anaemia?</p>
<p>Teardrop RBCs (+aniso and poikilocytosis) <br></br>Nucleated RBCs (erythroblasts)<br></br> Immature myeloid cells</p>
note nucleated RBCs are normal in BM, abnormal in PB
<p>What are 3 causes of leucoerythroblastic anaemia?</p>
<p>Infection: miliary TB/severe fungal infection<br></br>Malignancy: leukaemia/lymphoma/myeloma/ metastatic Ca<br></br>Myelofibrosis- dry tap on BM aspirate <br></br>USUALLY A MALIGNANCY INVOLVING BM</p>
<p>What are 5 laboratory features of haemolytic anaemias?</p>
<p>Anaemia (though may be compensated) <br> <br>Reticulocytosis <br> <br>Unconjugated hyperbilirubinaemia <br> <br>LDH raised <br> <br>Reduced haptoglobins</p>
<p>Which test detects auto immune haemolytic anaemia?</p>
<p>DAT/Coombs</p>
<p>Recall 2 malignancies that can cause a warm auto immune haemolytic anaemia?</p>
<p>Lymphoma
| <br></br>CLL</p>
<p>What type of anaemia is caused by mycoplasma infection?</p>
<p>cold autoimmune haemolytic anaemia</p>
<p>What are 3 causes of non-immune/ Dat neg haemolytic anaemia?</p>
<p>1. Malaria
<br></br>2. MAHA - microangiopathic haemolytic anaemia</p>
- o Paroxysmal nocturnal haemoglobinuria
<p>Recall 3 causes of MAHA</p>
<p>1. Underlying adenocarcinoma<br></br>2. Haemolytic uraemic syndrome</p>
- TTP
<p>How can CLL and AML be distinguished on blood film?</p>
<p>CLL has mature cells, AML has immature cells</p>
Blasts, which are immature and dysfunctional cells, normally make up 1% to 5% of marrow cells. Acute leukemias are characterized by greater than 20% blasts in the peripheral blood smear or on bone marrow leading to a more rapid onset of symptoms. In contrast, chronic leukemia has less than 20% blasts with a relatively chronic onset of symptoms.
What is the main cause of neutrophilia?
Pyogenic infection
| other cause - corticosteroidsHow do you distinguish a reactive/infective neutrophilia vs a malignant one?
No immature cells in reactive neutrophilia
Malignant has immature cells + either basophils (indicative of CML) or myeloblasts (indicative of AML) in malignant, neutrophils will be massively raised
What is the most common cause of a reactive lymphopaenia?
HIV
In which 2 conditions might smear/smudge cells appear on the blood film?
CLL
Non-Hodgkins lymphoma
Name 4 causes of an inherited haemolytic anaemia
specify the defects.Any of:
Hereditary spherocytosis - membrane
G6PD deficiency - enzyme
Sickle cell haemoglobin structural
Thalassaemia - haemoglobin quantitative
How can DIC cause MAHA?
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)
The detection of immunoglobulin light chain restricted B cell population is considered a surrogate marker of clonality, which can be confirmed by molecular assays. In general, the presence of a monotypic B cell population in the ascitic fluid is considered lymphomatous involvement rather than a reactive condition.Recall 2 tests that can determine immunophenotype in blood malignancies, and one use of knowing this info?
Recall 2 tests that can determine cytogenetics in blood malignancies and one use of knowing this info?
Recall 2 tests that can determine molecular genetics in blood malignancies and one use of knowing this info?
PCR
Pyro sequencing
Use: Detect JAK2 mutation in PV, or BCR ABL in CML cDNA
