Haematology Flashcards
Features of haemophilia A and B and ix
Haemophillia A- F8 deficiency. 90&% of cases, less severe than HaemB
Haemophillia B- F9
Easy bruising, haematoma, haearthorses
- Inc APTT (intrinsic pathway affected)
- Normal bleeding time
- Normal PT/INR (extrinsic)
Features of Von Willebrand’s Disease
Most common inherited bleeding disorder
AD inherbitance
Presents like platelt disorder- epistaxis, menorrhagia, gingival bleeding
- Slightly inc APTT
- Prolonged bleeding time
- Diagnosis: PFA-100 test
Mild bleeding- tranexamic acid
Features of DIC
Inappropriate release of tissue factor and activation of coagulation cascade
- Prolongation of bleeding time, APTT, and PT/INR
- Schistocytes on film
- Thrombocytopenia and low fibrinogen (consumption)
Features of sickle cell disease
Autosomal recessive- HbS
* FBC: normocytic, normochromic anaemia
* Blood film- hyposplenism-> howell jolly bodies, target cells
* Reticulocytosis
Management
* Hydrocycarbamide- inc HbF levels, reduces vaso-occlusive crises
* Prophylactic pen V
* Pneumococcal vaccine every 5 years
Beta thalassemia major vs minor
Mutation of beta globulin chain on chromosome 11
Trait/minor- one normal gene. significant microcytosis disproportionate to level of anaemia
Major- presents first year of life, FTT, hepatosplenomegaly
Significant microcytic anaemia
* Features of extramedullary haematopeises- skull bossing, bone marrow expansion
* Management- regular transfusions which can lead to iron overlad - iron chelation therapy important (desferrioxamine)
* Haemolysis- pallor, jaundice, fatigue
Ix and causes of intravascular vs extravascular haemolysis
Schumm test positive in intravascular haemolysis (inc methemalbumin)
* Intravascular- G6PD deficiency, fragmentation of RBCs: haemolytic uraemic syndrome…
* Extravascular- abnormalities of RBC shape (sickle cell disease, thamassaemia, hereditary spherocytosis)
Features of G6PD deficiency
X linked recessive- Males
African + mediterranean descent
Inc oxidative cell damage to RBCs-> intravascular haemolysis
Symptoms of anaemia, jaundice, gallstones- RUQ pain
Diagnosis of G6PD deficiency
DCT negative (not autoimmune)
Schumm positive (intravascular)
Blood film- spherocytes, heinz bodies (oxidative damage in RBCs), bite cells
G6PD enzyme assay- gold standard
Features of hereditary spherocytosis
Autosomal Dominant
Sphere shaped RBCs resulting in extravascular haemolytic anaemia esp in spleen
FTT, jaundice, splenomegaly , gallstones
Diagnosis of hereditary spherocytosis
DCT negative
Schumm negative (extravascular)
Film- spherocytes
Hb electrophoresis investigation of choice if uncetain diagnosis
Features of AML and investigations
Most common acute laeukaemia
Rapid proliferation of immature myeloblastic cells
65-70 years
* Anaemia- pallor, fatigue
* Thrombocytopaenia- bleeding/burising
* Recurrent infections (WCC high but dysfunctional)
* Splenomegaly
Film- Auer rods
FBC- inc immature WCCs, bone marrow failure (anaemia, thrombocytopaneia)
>30% blasts in BM biopsy
Features of CML and investigations
Uncontrolled proliferation of abnormal myeloid cells in bone marrow
95% philadelphia chromosome
65 years
Weight loss, splenomegaly (>50% pts), sweats, symptoms of anaemia
Bloods- high WBC- inc granulocytes at different stages of maturity.
Thrombocytosis- elevated in chronic phase
Genetics confirms diagnosis
1st line: IMATINIB - tyrosine kinase inhibitor
Features of CLL and investigations
Most common leukaemia in adults
Monoclonal proliferation of lymphocytes (B cells in 99% cases)
70 years
* Lymphocytosis on FBC
* Lymphadenopathy, bleeding
* Hepatosplenomegaly
FBC- lymphocytosis, anaemia, thrombocytopenia
Film- smudge cells/smear cells
Features of ALL
Childhood haematological malginancy
2-5 years
BM crowding with resultant failure- fatigue, pallor, infections, bruising
Ix- leucocytosis
Diagnosis through bone marrow biopsy
Features of Hodgkins Lymphoma
Malignant proliferation of lymphocytes- Reed-Sternberg Cell (large multinucleated lymphocyte)
Lymphadenopathy- painful afterdrinking alcohol
Weight loss, pyrexial, night sweats
Features of Burkitt’s lymphoma (Non Hodgkins)
Burkitt’s:
* Endemic (African)- presents with maxillary/mandibular tumour. EBV infection
* Sporadic- Abdominal/ileocaecal tumours- HIV infection
Features of Polcythaemia Rubra Vera
Increased number of RBCs
JAK-2 mutation- 95%
Men, 50-75 years
* Hyperviscocity- headache, pulsatile tinnitus, visual disturbance
* Pruiritis following bath
* Erythromelagia- peripheries appear purple and painful due to cell aggregation (treat with aspirin)
High Hb, high haematocrit
Low EPO (negative feedbacK)
1st line- Venesection to maintain haematocrit
Aspirin- erythromelalgia
Hydrocycarbamide- pts at high risk of thrombosis )age >60 or hx thrombosis)
Features of essential thrombocythaemia
High platlet count >600
JAK 2 mutation 50% cases
- Erythtromelgia
- Thrombosis- arterial (MI/stroke), venous (DVT/PE)
- Haemorrhage due to abnormal platelet function- bruising, epstaxis, GI bleeding
Management
Aspirin- low risk cases e.g. no hx thrombosis, age <60
Hydroxycarbamide 1st line in intermiedate risk
Features of idiopathic/immune thrombocytopenia
Non-blanching petechial/purpuric rash , epistaxis, bleeding from gums
Acute- most common in children after inefection
Chronic- more common in aults
Isolated thrombocytopenia
Management
Oral prednisolone- 1st line
IVIG can be used- raises plt count quicker than steroids
Features of Factor V Leiden
Most common inherited thrombophillia
Mutation of factor V protein- activated protein C resistance
DVT/PR in pts <50 years
Recurrent DVT/PE
FHx VTE
