Intro to Haem -1 Flashcards
What is the name of the disorder where there is a factor 9 deficiency?
Haemophilia B
What is the name of the condition where there is excess factor 9 and what is this due to?
Factor 9 Padua (gene mutation resulting in increased likelihood of thrombosis)
What is the mutation in polycythemia?
JAK2 somatic mutation (acquired)
What is the mutation which causes paroxysmal nocturnal haemoglobinuria?
PIG-A mutation
Why do you not get acquired DNA mutations in the production of soluble factors?
Because hepatocytes do not have rapidly dividing cells like the bone marrow
How do you differentiate between a primary and secondary haematological disorder?
Primary - due to a disease of the blood or bone marrow
Secondary - the abnormality is elsewhere, but this shows up in the blood
Give an example of a secondary blood disease
Acquired haemophilia A due to autoantibodies against factor 8
When can factor 8 be in excess as a secondary cause? Name two scenarios
Can be increased in pregnancy, hyperthyroidism
Give examples of systemic conditions which cause secondary haematological changes
Chronic inflammation - raised factor 8 levels can lead to increased level of thrombosis
What is factor 8 needed for?
Factor 8 is a cofactor of factor 9a, so together they convert more factor 10 to factor 10a
Why might rbc levels be raised?
Due to high altitude or hypoxia
Why might rbc levels be reduced?
Shortened survival due to haemolytic anaemia
BM infiltration
Iron or B12 deficiency
Why might platelet levels be raised?
Due to bleeding
Splenectomy
Inflammation
Why might platelet levels be reduced?
ITP
TTP
What does TTP stand for
Thrombotic thrombocytopenic purpura
Young male child, haemarthrosis and low factor 8 - condition
Haemophilia A
Older woman with low factor 8
Haemophilia A acquired
What could be the cause of iron deficiency anaemia?
Bleeding until proven otherwise - menorrhagia in pre-menopausal women, or blood loss in men and post menopausal women
Identify key sites of blood loss
GI loss - ulcer, gastric cancer
IBD, colon cancer
Renal tract
- Renal cell carcinoma
- Bladder cancer
What does leucoerythroblastic anaemia mean? What does this look like on a blood film?
Where there are leucocyte and erythrocyte precursors in the blood.
RBCs are nucleated
Myeloblasts present
Teardrop shaped - poikilocytes
Differentials for leucoerythroblastic anaemia
Leucoerythroblastic = think infiltration of the bone marrow
Cancer or mets
Infection - miliary TB or severe fungal infection
Myelofibrosis (splenomegaly + dry tap on BM aspirate)
Haemolytic anaemia - what would you expect to find on lab results?
Raised LDH
Bilirubinemia (unconjugated/pre-hepatic)
Reticulocytosis with mild MCV raise (just above 100)
Reduced haptoglobins
Pernicious anemia MCV
above 120
Normal MCV range
80-100
