Haematology Flashcards
Key pathological feature in sideroblastic anaemia?
inability to form haem in mitochondria, causing iron deposition in the nucleus
Blood film and bone marrow biopsy finding in sideroblastic anaemia?
Blood film: basophillic stippling
Bone marrow biopsy: sideroblast in Prussian blue staining
Mainstay of sideroblastic anaemia management?
Supportive, vitamin B6 (pyridoxine) supplement
Blood film finding and investigation for diagnosis of sickle cell anaemia?
Blood film: sickle cells, target cells
Diagnosis: Hb electrophoresis
Mainstay of long-term management for sickle cell anaemia?
Hydroxycarbamide to increase production of HbF
What is the key pathological feature of G6PD deficiency and inheritance pattern?
Reduced glutathione leading to increased oxidative stress on RBCs. autosomal recessive
Blood film finding and investigation for diagnosis of G6PD deficiency?
Blood film: Heinz bodies
Diagnosis: G6PD enzyme assay
3 main drug groups that precipitate a G6PD deficiency crisis?
- anti-malarials e.g. primaquine
- ciprofloxacin
- sulphonamides
What is the key pathological feature of hereditary spherocytosis and inheritance pattern?
spherical RBCs trapped in spleen leading to haemolysis. autosomal dominant
Investiagtion for diagnosis for hereditary spherocytosis?
EMA binding
Management options for hereditary spherocytosis?
supportive Rx +/- transfusion, folate supplement, splenectomy
A bloods finding seen only in intravascular haemolysis?
decreased haptoglobin
A blood film finding seen only in microangiopathic haemolysis?
schistocytes
3 examples of intravascular and extravascular haemolysis?
Intravascular: mech fragmentation, G6PD, PND, cold autoimmune
Extravascular: haemoglobinopathies, spherocytosis, warm autoimmune
Diagnostic test for paroxysmal nocturnal haemoglobinuria
flow cytometry for low CD55/59
how does warm AIHA and cold AIHA differ in immunoglobulins, temp and site of haemolysis?
warm-cold
1. IgG-IgM
2. 37-4
3. extravascular-intravascular
5 clinical features of TTP?
- thrombocytopenia
- microangiopathic haemolysis
- pyrexia
- renal failure
- fluctuating neurology
Key pathological feature of TTP
platelet aggregation dueto large vWF multimers, as result of autoimmunne Ab against ADAMTS13 enzyme
blood findings in DIC?
low platelets
prolonged PT, APTT
low fibrinogen
most common inherited bleeding disorder and its inheritance pattern?
von Willebrand disease, autosomal dominant
Treatment for severe von Willebrand disease and what is its mechanisms
desmopressin - induces release of vWF
key pathological feature and inheritance pattern of Haemophilia A and B?
Haemophilia A: Factor VIII deficiency
Haemophilia B: Factor IX deficiency
X-linked recessive
Inhibition of which coagulation factors are reduced in antithrombin III deficiency?
thrombin, Factor IX, Factor X
what is the risk when starting warfarin for protein C deficiency?
warfarin-induced skin necrosis
Key clinical feature in antiphospholipid syndrome?
predisposition to arterial and venous thromboses
Hallmark bloods finding in antiphospholipid syndrome?
paradoxical rise in APTT
Which autoimmune Abs are seen in antiphospholipid syndrome?
- anticardiolipin antibodies
- anti-beta2 glycoprotein I
- lupus anticoagulant
What are the issues caused by antiphospholipid syndrome in pregnancy?
- recurrent miscarriages
- IUGR
- pre-eclampsia
- placental abruption
How is antiphospholipid syndrome treated in pregnancy?
low dose aspirin then LMWH when fetal heart is seen
What is the inheritance pattern of hereditary angioedema and how is it screened?
autosomal dominant. C2/4 levels between attacks
What are the main associations in each Type of cryoglobulinaemia?
Type 1 - Raynaud’s, myeloma, WM
Type 2 - hepatitis C
Type 3 - RA, Sjogren’s
Blood film finding in myelofibrosis?
Tear drop-like poikilocytes
Hallmark feature of Hodgkin’s lymphoma seen in bone marrow biopsy?
Reed-Sternberg cells
Which type of Hodgkin’s lymphoma is:
1. Most common
2. Best prognosis?
- Nodular sclerosing
- Lymphocyte dominant
What chromosomal translocation is associated with the following types of NHL?
1. Burkitt’s
2. Follicular
3. Mantle cell
- T(8,14)
- T(14:18)
- T(11:14)
Key pathological feature in myelofibrosis?
hyperplasia of abnormal megakaryocytes
blood film finding in myelofibrosis?
tear-drop poikilocytes
mutation associated with both myelofibrosis and essential thrombocyto
CALR mutation
FBC finding in polycythaemia vera?
raised Hb + haemotocrit + neutrophils
bone barrow biopsy/bloodd film finding in AML?
myeloblasts with large nuclei +/- Auer rods
genetic abnormalities that carry poorer prognosis in AML?
deletion of chrososome 5/7
genetic abnormality seen in acute promyelocytic leukaemia?
t(15:17)
How does APL present classically?
DIC or thrombocytopenia
treatment specific to APL?
all-trans retinoic acid
genetic abnormality in CML?
T(9:22) in Philadelphia chromosome
blood film/FBC finding in CML?
leukocytosis, increased granulocytes
1st line treatment in CML and its mechanism?
imatinib, tyrosine kinase inhibitor
genetic abnormities that convey good and poor prognosis in CLL?
good prognosis: 13q deletion
poor prognosis: 11q/17p deletion
what is Richter’s transformation?
CD5+/CD23+ CLL B cells transforming into high-grde NHL
screening test for hereditary angioedema?
low C4 levels
key pathological feature and diagnostic test in hereditary angioedema?
low C1-esterase inhibitor
hallmark clinical feature in methaemglobulinaemia?
low SpO2 depsite normal pO2
treatment options for methaemoglobinuaemia?
ascorbic acid, methylthioninium chloride IV
Defining pathological feature of Waldenstrom’s macroglobulinaemia?
monoclonal IgM paraproteins
