Haem/Onc Flashcards
What is affected when someone has alpha thalassemia
the alpha globin alleles on Ch16 (2x2)
What would happen if all 4 alpha globin alleles on Ch16 were affected
death in utero
What would happen if 3 alpha globin alleles on Ch16 were affected?
HbH disease, hypochromic microcytic anaemia with splenomegaly
What would happen if alpha globin alleles on Ch16 were affected?
Hypochromic and microcytic, normal Hb
What is HbA
alpha2 + beta2 = normal Haemoglobin
What is beta thalassemia trait?
autosomal recessive
mild hypochromic microcytic anaemia. Microcytosis disproportional to anemia
What is beta thalassemia major
Ch11, abscence of beta chains
FTT and hepatomegaly
microcytic anaemia
raised HbA2 and HbF
no HbA
How is beta thalassemia major managed
Repeated transfusions + desferrioxamine to prevent iron overload and organ failure
What genetic abnormality leads to Burkitts lymphoma
c-myc gene translocation t(8:14)
What is each form of Burkitts associated with?
Sporadiac: abdominal tumours, HIV
Endemic: maxilla, mandible, EBV
What would a starry sky on microscopy indicate
Burkitts lymphoma
Management of Burkitts
Chemo with rasburicase prior as high rise of tumour lysis syndrome
Blood results to indicate tumour lysis syndrome
high: phosphate, potassium, uric acid
low: calcium
Prevention of tumour lysis syndrome
IV Fluids
low risk: allopurinol
high risk: rasburicase (uric acid ->allantoin
G6PD deficiency inheritance
X linked
What is G6PD deficiency
increased RBC susceptibility to oxidative stress
How does G6PD present
neonatal jaundice
intravascular haemolysis
gallstones
What would Heinz bodies on blood film indicate
G6PD def
How do you diagnose G6PD
G6PD enzyme assay 3 months after acute episode
Triggers for G6PD
primaquine, cipro sulph-
infection
broad beans
What is polycythemia?
Increase in red cell volume
Primary: polycytheameia vera
Secondary: COPD, OSA
Relative: dehydration, stress
What causes polycythaemia Vera?
Associated with JAK2 mutation
myeloproliferative disorder, proliferation of marrow stem cells -> increased red cell volume
Symptoms of PCV
pruritis after hot bath
splenomegaly
HTN
arterial/venous thrombosis (hyperviscosity)
haemorrhage
Investigation of PCV
FBC
JAK 2
Low ESR
Management PCV
aspirin: reduced VTE risk
venesection
cheo: hydroxyurea
Prognosis PCV
5-15% develop myelofibrosis or acute leukaemia
Cancers likely to cause SVCO
SCLC
lymphoma
Presentation of SVCO
SOB
swelling
headache
blurred vision
pulseless jugular venous distension
Management of SVCO
endovasc stenting
radial chemo (SLCL, lymphoma)
steroids
Von Willebrands disease inheritance
Type 1: autosomal rec
Type 3: autosomal dom
Presentation of vWD
epistaxis, menorrhagia
Types of vWD
1: partial reduction in vWF (80%)
2: abnormal form of vWF
3: no vWF
Investigations vWD
increased bleeding time
increased APTT
decreased factor VIII
defective platelet aggregation with ristocetin
defective platelet aggregation with ristocetin
Von Willebrands
Management of vWD
mild bleed: tranexamic acid
desmopression: induces release of vWF from endothelial cells
factor VIII
Examples of acquired thrombophilia
anti-phospholipid syndrome
COCP
most common inherited thrombophilia
Factor V Leiden (activated protein C resistance)
Types of haemophilia
A: factor VIII def
B: factor IX def
Genetic inheritance of haemophilia
X linked
Presentation of haemophilia
haemoarthrosis
haematomas
increased bleeding after surgery/trauma
Blood marker for haemophilia
raised APTT
How would ITP present
epistaxis, petechia, purpura
thrombocytopenia, antiplatelet autoantibodies
Mx: pred, IVIG
How would TTP present
The terrible pentad
1) thrombocytopenia
2) anaemia
3) fever
4) renal failure
5) neuro signs
Pathophysio TTP
deficiency ADAMTS13 which breaks down vWF therefore increased vWF leads to platelet aggregation
Causes of TTP
post infectious
pregnancy
tumours
SLE
HIV
ciclosporin, OCP, epn, clopi, acic
What would schistocytes on blood film indicate
TTP
DIC
Management of TTP
plasma exchange
steroids, immunosup
What is DIC
coagulation and fibrinolysis disregulation resulting in clotting with bleeding
transmembrane glycoprotein (TF) release
Diagnosis of DIC
low: platelets, fibrinogen
High: PT APTT D-dimer
Schistocytes
Examples of microcytic anaemia
IDA
thalassemia
sideroblastic
Examples of macrocytic anaemia
Vit B12 def*
folate def*
MTX*
alcohol
liver
hypothyroid
*megaloblastic
Examples of normocytic anaemia
chronic disease
CKD
aplastic
haemolytic
acute blood loss
Types of Sideroblastic anaemia
congenital: delta aminolevulinate syn 2 def
acquired: myelodys, alcohol, lead
Pathophy sideroblastic anaemia
red cells fail to form completely
Blood results of sideroblastic anaemia
microcytic anaemia
high ferritin, iron, transferritin
Bone marrow: sideroblasts
blood film: basophilic stippling
Management of sideroblastic anaemia
supportive
What is pernicious anaemia
antibodies to intrinsic factor and parietal cells causing reduced B12
Presentation of pernicious anaemia
anaemia: tired, pale, SOB
neuro: peripheral neuropathy, weakness, neuro psych
lemon tinge (jaundice + anaemia)
sore tongue
Investigations of pernicious anaemia
macrocytic anaemia
blow b12
Blood film: hypersegmented polymorphs
anti intrinsic factor antibodies - specific
anti parietal antibodies
Management pernicious anaemia
IM vit B12
Cause of aplastic anaemia
autoimmune destruction haematopoeitic stem cells (pancytopenia)
mostly unknown
radiation, chemo, Fanconis (autosome rec, short, cafe au lait, increased risk AML)
presentation aplastic anaemia
RBC: fatigue, pallor
WBC: infections
Platelets: bleeding, petechiae
Diagnosis aplastic anaemia
pancytopenia
raised erythropoietin
bone marrow: low haematopoietic stem cells
Management aplastic anaemia
blood products
ATG ALG (+steroids)
stem cell transplant
Types of haemolytic anaemia
warm: IgG, SLE, Mx steroids
Cold: IgM, lymphoma, EBV, Raynaurds, less steroid responsive
What would +ve Coombs test indicate
Haemolytic anaemia
What is SCD
autosomal rec, abnormal Hb synthesis
Describe possible types of SCD
trait: HbAS
disease: HbSS
Mild disease: HbSC
Pathophysio SCD
HbS polymerises at low o2 and sickles -> haemolyse -> block vessels
Sickle cell diagnosis
haemoglobin electrophoresis
Sickle cell management
crisis: rehydrate, o2, blood, exchange
long term: hydroxyurea (increases HbF)
Pneumococcal vaccine
Presentation of Hodgkins lymphoma
lymphadenopathy: asyn, pain with alcohol
B symptoms
medistinal mass
Ix Hodgkins lymphoma
normocytic anaemia
Reed sternberg cells (owl eye)
*most common type nodular sclerosing
Staging used for lymphoma
Ann arbor
1: single lymph node
2: 2+ unilateral
3: bialteral
4: beyond lymph nodes
A: no systemic features
B: systemic features
Management of Hodgkins
Chemo
Radio
Combo
Prognostic features of Hodgkins
Bad: b symptoms
Good: lymphocyte predominant type
Presentation NHL
lymphadenopathy
B symptoms
extranodular: pancytopenia, gastro, nerve palsies
Management NHL
watchful waiting
Chemo or radio
Vaccines
What causes myeloma
genetic mutations which occur as B-lymphocytes differentiate into mature plasma cells.
Presentation of myeloma
CRABBI
Calcium, high, constipation, nausea, confusion
Renal damage
Anaemia
Bleeding
Bone pain (back)
Infections
Investigations for myeloma
protein electrophoresis: blood IgA IgG
urine: Bence Jones
Bone marrow: increased plasma cells
Whole Body MRI
XR skull: rain drop skull
Rain drop skull
Myeloma
Diagnosis of myeloma
1 major + 1 minor OR 3 minor
Major: plasmacytoma, BM 30% plasma cells, increased M protein
Minor: osteolytic lesions, BM 10-30% plasma cells, minor increased M protein, low levels Abs bood
CML important points
Philadelphia Ch T(9:22)
Granulocytes at different stages of maturation
Mx: imatinid (inhibits tyrosine kinase)
AML important points
symptoms relating to BM failure
acute promyelocytic leukaemia
-t(15:17)
- 25yo
-DIC
- good prognosis
ALL important points
kids 2-5
good prog: del (9p), FAB L1
bad prog: philadelphia t(9:22), FAB L3
