Haem Flashcards
What are Auer rods seen on bone marrow biopsy or blood film pathognomonic of?
AML
What translocation is most likely present in CML?
t(9;22) Bcr-Abl translocation –> forms unregulated tyrosine kinase which causes excessive proliferation and reduction in apoptosis.
What type of leukaemia does high levels of neutroph and platelets indicate?
CML –> as these are mature myeloid derived cells.
What mutation is implicated in the majority of cases of polycythaemia vera>
JAK2 mutation
What is polycythaemia vera?
Malignancy of RBCs
What investigations are indicated in tumour lysis syndrome?
1) ECG
2) U&Es
3) Calcium
4) Uric acid
What investigation will confirm a diagnosis of aplastic anaemia?
Bone marrow biopsy
What is aplastic anaemia?
When the bone marrow fails to produce blood cells of all lineages –> pancytopenia.
What is Richter transformation?
This is when CLL transforms into a rare type of non-Hodgkin lymphoma (usually diffuse large B cell lymphoma).
What type of leukaemia does Richter transformation happen in?
CLL
What key feature indicates Richter transformation?
Rapidly enlarging lymph nodes
Inheritance of G6PD deficiency?
X-linked recessive
What Abx used in UTIs can predispose to haemolysis in G6PD deficiency?
Nitrofurantoin
How can mechanical heart valves lead to haemolytic anaemia?
Valves can cause intravascular haemolysis as the turbulent blood flow around the mechanical valve causes mechanical damage to the erythrocyte.
What is the management of an acute flare of RA?
Analgesia + corticosteroids
Define heparin induced thrombocytopenia
A drop of platelet by >30%.
This tends to be seen after 5-10 days of heparin treatment.
What are smudge cells seen on blood film pathognomonic of?
CLL
What are smudge cells in CLL?
In CLL, lymphocytes are fragile so may be damaged during slide preparation, resulting in smudge/smear cells.
Who does CLL typically present in?
Male patients >60
How is CLL often picked up?
Incidentally as a raised WCC
What is the treatment of choice in acute and severe faciparum malaria?
IV artesunate
What organism typically causes osteomyelitis in sickle cell?
Salmonella species
What is the gold standard investigation in osteomyelitis?
MRI
How does CML typically present?
In middle aged patients with massive splenomegaly
What is a haemolytic crisis?
When a large number of RBCs are destroyed over a short time.
Rapid fall in Hb, raised reticulocytes and prehepatic hyperbilirubinaemia.
What is hereditary spherocytosis?
An autosomal dominant condition which causes defects in the erythrocyte cell membrane.
Results in premature haemolysis of erythrocytes.
What is anaemia of chronic disease?
A reduction of RBC production in response to chronic disease.
Can cause a normocytic or microcytic anaemia.
What are some causes of anaemia of chronic disease?
- Chronic infections e.g. TB
- Malignancies e.g. lymphoma
- Autoimmune e.g. RA, SLE
Why may ferritin be raised in anaemia of chronic disease?
In response to systemic inflammation
What are some features in a person aged 0-24 years that should prompt a very urgent FBC (within 48 hours) to investigate for leukaemia?
- Pallor
- Persistent fatigue
- Unexplained fever
- Unexplained persistent infections
- Generalised lymphadenopathy
- Persistent or unexplained bone pain
- Unexplained bruising
- Unexplained bleeding
What is the median age of presentation of myeloma?
70 y/o
Features of myeloma? Mneumonic: CRABBI
C - hyperCalcaemia
R - renal impairment
A - anaemia
B - bleeding
B - bone lesions (pain and pathological fractures)
I - infection
How is calcium affected in myeloma?
Hypercalcaemia –> constipation, nausea, anorexia and confusion
What is multiple myeloma?
A haematological malignancy characterised by plasma cell proliferation.
It arises due to genetic mutations which occur as B-lymphocytes differentiate into mature plasma cells.
What causes anaemia in myeloma?
Bone marrow crowding suppresses erythropoiesis leading to anaemia
What causes bleeding in myeloma?
Bone marrow crowding also results in thrombocytopenia.
What causes increased infection in myeloma?
A reduction in the production of normal immunoglobulins.
How can amyloidosis affect the tongue?
Macroglossia
How can myeloma lead to stroke?
Hyperviscosity of blood (due to raised plasma cells).
What will a blood film show in myeloma?
Rouleaux formation
Features of CML?
1) Anaemia -> lethargy
2) Weight loss & sweating
3) Splenomegaly -> abdo discomfort
4) an increase in granulocytes at different stages of maturation
5) +/- thrombocytosis
What are granulocytes?
Neutrophils, eosinophils, basophils & mast cells.
1st line treatment of CML?
Tyrosine kinase inhibitor e.g. imatinib
In which condition does he urine classically turns deep red on standing?
Acute intermittent porphyria
What is acute intermittent porphyria?
A rare autosomal dominant condition caused by a defect in porphobilinogen deaminase, an enzyme involved in the biosynthesis of haem.
Results in the toxic accumulation of delta aminolaevulinic acid and porphobilinogen.
How does AIP characteristically present?
With abdominal (pain & vomiting) and neuropsychiatric symptoms (depression, motor neuropathy) in 20-40-year-olds.
AIP is more common in females (5:1)
What medication can be used to stimulate the release of vWf in endothelial cells?
Desmopressin (analogue of ADH)
What is the most common inherited bleeding disorder?
Von Willebrand’s disease
Management of acute haemolytic transfusion reaction?
Stop transfusion & supportive care e.g. IV fluids