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4th Year > Haematology > Flashcards

Haematology Flashcards

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1
Q

What causes alpha thal and what occurs with different levels of mutation?

A

Alpha thal = genetic defect in alpha global chains (autosomal recessive)

alpha thal trait = 1 or 2 copies of faulty gene
HbH = 3 copies of faulty gene
4 faulty genes = incompatible with life (die in utero)

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2
Q

When does HbF become HbA and what happens at this stage?

A

HbF - HbA in first year of life

Any beta global chain defects present at this stage (game Hb replaced by beta Hb)

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3
Q

How is severe thalassaemia managed (HbH, beta thal major)?

A

Blood transfusions, splenectomy
bone marrow transplant can be curative

iron chelation to prevent iron overload

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4
Q

What is the blood picture in thalassaemia?

A

Microcytic hypochromic anaemia (smaller, paler, RBCs)

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5
Q

What are the signs of thalassameia?

A

Splenomegaly (RBCs more fragile and break more easily, collected in spleen so excess = splenomegaly)

Pronounced forehead + malaria eminences/cheekbones (expansion of bone morrow to increase RBC production)

Failure to thrive

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6
Q

Why is iron chelation necessary in thalassaemia?

A

To prevent iron overload due to increased absorption (in response to anaemia) and from regular blood transfusions

Assess ferritin prior to blood transfusion to prevent iron overload (symptoms of haemochromatosis)

Deferoxamine = iron chelating agent

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7
Q

How is thalassaemia diagnosed?

A

FBC - microcytic, hypo chromic anaemia
Haemoglobin electrophoresis - globin abnormalities
DNA testing - genetic abnormality

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8
Q

What causes macrocytic anaemia?

A

B12 or folate deficiency

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9
Q

What are the causes of B12 or folate deficiency?

A

B12 - autoimmune (pernicious anaemia), diet (vegan), malabsorption (IBD/Coeliac)

Folate - diet, alcohol excess, drugs (methotrexate), malabsorption

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10
Q

Where are B12, iron and folate absorbed in the gut? What are the dietary sources of each?

A

B12 = terminal ileum (requiring intrinsic factor from gastric parietal cells)

Folate = proximal jejunum

Iron = duodenum + jejunum

Sources:
B12 = meat, fish, dairy
Folate = green leafy veg
Iron = red meat, beans, nuts, green leafy veg

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11
Q

How is pernicious anaemia diagnosed and treated?

A

Diagnosis = autoantibodies against intrinsic factor or gastric parietal cells

Treatment = hydroxycobalamin injections (already hydroxylated as no intrinsic factor)

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12
Q

How is dietary B12 and folate deficiency treated?

A 
B12 = cyanocobalamin injections (can still hydroxylate)
Folate = folic acid 5mg

ALWAYS replace B12 BEFORE folate due to risk of subacute degeneration of spinal cord

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13
Q

What are the risks of B12 deficiency?

A

Peripheral neuropathy, mood or cognitive changes, visual changes

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14
Q

What are the blood film findings of macrocytic anaemia due to B12/folate deficiency?

A

Macroovalocytes + hyperhsegmented nucleus

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15
Q

What causes sickle cell anaemia?

A

Genetic condition causing sickle shaped RBCs (autosomal recessive) due to HbS instead of HbA

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16
Q

Why is sickle cell disease more common in areas affected by malaria?

A

Sickle cell trait is protective against malaria so have a survival advantage to pass on gene

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17
Q

How is sickle cell disease tested for?

A

Heel prick test at 5 days (part of newborn screening)

Testing offered during pregnancy if high risk

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18
Q

What is the risk of sickle cell disease?

A

Sickle cell crisis

  • sickle shaped RBCs block capillaries and cause distal ischaemia
  • often associated with dehydration / other triggers
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19
Q

What is priapism and how is it treated?

A

Persistent painful erection in sickle cell disease

Aspiration of blood from penis

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20
Q

How is sickle cell disease managed?

A

Splenectomy (due to repeated splenic infarcts)
Penicillin V (phenoxymethylpenicillin) to prevent infections (trigger)
Hydroxycarbamide (stimulated HbF production - protective)
Avoid dehydration + other triggers for sickle cell crisis

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21
Q

What are the clinical features of haemolytic anaemia?

A

Anaemia (reduced circulating RBCs)
Splenomegaly (fills up with destroyed RBCs)
Jaundice (bilirubin released during RBC destruction)

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22
Q

What is the blood film finding in haemolytic anaemia?

A

Schistocytes (RBC fragments)

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23
Q

What is the cause of hereditary spherocytosis/ellipocytosis?

A

Autosomal dominant

Spherocytes (round RBCs) or ellipocytes (ellipse shaped RBCs)

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24
Q

What are triggers in G6PD deficiency?

A

Infections, medications (antimalarials, ciprofloxacin), broad beans

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25
How does G6PD commonly present?
Jaundice in neonates | OR with a haemolytic anaemia crisis due to a trigger
26
What is the blood film finding of G6PD deficiency?
Heinz bodies
27
What test is useful for autoimmune haemolytic anaemia?
Direct coombs test +ve (antibodies against RBCs)
28
What are the types of autoimmune haemolytic anaemia?
Warm type - at normal temperatures, more common, idiopathic Cold type - at low temps (<10º), agglutination occurs, 2ndary to SLE, lymphoma, leukaemia etc
29
What ages are the different types of leukaemia most common?
``` ALL = children and >45 CLL = >55 CML = >65 AML = >75 ``` ALL CeLLmates have CoMmon AMbitions
30
How is leukaemia diagnosed?
Bone marrow biopsy (from iliac crest)
31
What cells are overproduced in ALL and CLL?
B lymphocytes
32
What condition is ALL associated with?
Downs syndrome
33
What are the blood film findings of ALL and CLL?
``` ALL = blast cells CLL = smear/smudge cells (due to fragile cells during preparation process) ```
34
What is Richter's transformation?
Transformation of CLL to high grade lymphoma
35
Which types of leukaemia are associated with Philadelphia chromosome?
``` ALL = 30% of adults have Philadelphia chromosome CML = all have Philadelphia chromosome ``` 9,22 translocation
36
What are the phases of CML?
Chronic phase; lasts >5yrs, asymptomatic (incidental finding of increased WBCs) Accelerated phase: symptomatic (anaemia, thrombocytopenia, immunocompromised) - blast cells 10-20% Blast phase: severe symptoms (often fatal) - blasé cells >30%
37
What can AML transform from?
Transformation from a myelodysplastic syndrome
38
What are the blood film findings of AML?
Blast cells with Auer rods
39
How is leukaemia treated?
Chemotherapy and steroids Bone marrow transplant
40
What is tumour lysis syndrome and how is it managed?
Dangerous side effect of chemotherapy Release of uric acid causing an AKI Allopurinol can be used to decreased uric acid
41
What are the A and B symptoms of lymphoma?
A = lymphadenopathy (non-tender and rubbery, can be painful when drink alcohol) B = fever, weight loss, night sweats
42
How is Hodgkins lymphoma diagnosed?
Lymph node biopsy = Reed sternberg cells
43
What is LDH used for?
Used as a tumour marker in leukaemia and lymphoma Non-specific sign as can also by raised by other cancers and non-cancerous sources
44
What are the outcomes of lymphoma? | How is lymphoma managed and what are the risks?
Good outcomes - curative in most cases Chemotherapy - risk of leukaemia + infertility Radiotherapy - risk of future cancers
45
What are the risks for non-Hodgkins lymphoma?
Burkitt lymphoma = HIV, EBV and malaria MALT lymphoma = H. pylori Also diffuse large B cell lymphoma (no specific risk factors - rapidly growing painless mass >60yo)
46
What is the Ann Arbour staging?
Staging for lymphoma (Hodgkins + non-hodgkins) 1: confided to only 1 lymph node region 2: >1 lymph node region, BUT only above/below diaphragm 3: affects lymph nodes above AND below diaphragm 4: metastases to other non-lymphatic organs (lungs or liver most common)
47
What causes myeloma?
Overproduction of a single antibody by plasma cells (B lymphocytes) Abnormal antibody/immunoglobulin produced = myoclonal paraprotein
48
What is the difference between myeloma and multiple myeloma?
Myeloma = purely overproliferation by plasma cells | Multiple myeloma = myeloma affecting multiple areas of the body
49
What is MGUS and smouldering myeloma?
MGUS = monoclonal gammopathy of undetermined significance = over production of a single antibody without other cancer/myeloma features (may progress to myeloma - should be monitored) Smouldering myeloma = progression of MGUS (premalignant - more likely to progress to myeloma)
50
What type of immunoglobulins are overproduced in myeloma?
Any (IgA, IgG, IgM, IgD, IgE) | >50% are IgG
51
How does myeloma present?
``` CRAB Calcium raised (hypercalaemia) Renal failure Anaemia Bone lesions/pain ```
52
Why does myeloma cause anaemia, bone pain and renal failure?
Anaemia: bone marrow infiltration by plasma cells suppresses other cell lines (anaemia, neutropenia, thrombocytopaenia) Bone pain: osteolytic lesions (increased resorption = hypercalaemia) - pathological fractures common (particularly of vertebrae) Renal failure: due to hypercalcaemia, immunoglobulins blocking flow, dehydration, bisphosphonate use (for bone disease)
53
How is myeloma diagnosed?
BLIP tests - Bence jones proteins (urine electrophoresis) - Light chain assay (serum free) - Immunoglobulins (serum) - Protein electrophoresis (serum) Definitive = bone marrow biopsy (confirm diagnosis)
54
How is myeloma managed?
1st line: | Chemotherapy + bortezomid/thalidomide/dexamethasone)
55
What causes myeloproliferative disorders and what are they?
Uncontrolled proliferation of a single stem cell line (bone marrow cancers) ``` Primary myelofibrosis (haematopoietic stem cell) Polycythemia vera (erythroid cells) Essential thrombocytopaenia (megakaryocyte) ```
56
What genetic mutations are associated with myeloproliferative disorders?
JAK2 (95% of polycythemia vera) - target with Ruxolitinib MPL CALR
57
Why/where does extramedullary haematopoeisis occur in myeloproliferative disorders?
Spleen + liver (hepatosplenomegaly) | Bone marrow fibrosis requires haematopoeisis to occur elsewhere
58
How does polycythaemia vera present and what is the 1st line treatment?
Ruddy complexion, conjunctival plethora (red eyes), splenomegaly 1st line = venesection (Jak2 inhibitors - ruxolitinib) Aspirin to prevent thrombotic events
59
How does essential thrombocythaemia (ET) present and what is the criteria for diagnosis?
``` Presentation = anaemia + thrombosis (arterial + venous) Diagnosis = PLT > 600 ```
60
How is essential thrombocythaemia managed?
Aspirin to prevent thrombus formation | Chemotherapy for disease control (hydroxyurea/hydroxycarbamide)
61
How does (primary) myelofibrosis present and what are the findings on FBC?
Presentation: splenomegaly, portal hypertension, bleeding/petichiae (low PLT) FBC: Low Hb, high or low PLT, high or low Neutrophils (anaemia, leukocytosis OR leukopenia, thrombocytosis Or thrombocytopenia)
62
What are the blood film findings of myelofibrosis?
Tear drop RBCs | Blasts (immature RBC + WBC)
63
What are the bone marrow biopsy findings of myelofibrosis?
'Dry' from scar tissue
64
What is myelodysplastic syndrome?
Failure of maturation of myeloid bone marrow cells | affects myeloid cell line - anaemia, neuropaenia, thro,bocytopaenia
65
What is the risk with myelodysplastic syndrome with a history of chemo/radiotherpay?
Richters transformation to AML
66
How is myelodysplastic syndrome diagnosed and managed?
Diagnosis = abnormal FBC (low RBC, low neuts, low PLT), Bone marrow biopsy Management - monitoring, blood transfusions for anaemia, stem cell transplant
67
What are the effects of alcohol on blood?
``` Thrombocytopenia (destruction of platelets) Macrocytic anaemia (folate insufficiency) ```
68
What medications cause thrombocytopenia?
Sodium valproate, methotrexate, isotretinoin, antihistamines, PPIs
69
In what type of thrombocytopenia should PLT transfusion NOT be used?
TTP - thrombotic thrombocytopenic purpura | thrombosis causes low platelets - will contribute to thrombosis
70
Under what value should a platelet transfusion be given in thrombocytopenia?
< 10 x10^9/L if otherwise well <30 if symptomatic of bleeding <50 if about to undergo invasive procedures or surgery
71
How should ITP be treated in adults and children?
Adults 1 - steroids (oral prednisolone) 2 - IV immunoglobulins (splenectomy rarely used) Children no treatment - often resolve within 6 months (if PLT<10, treat as adults)
72
How does heparin induced thrombocytopenia present? What is the management?
Patient on heparin with low platelets who develops clots Stop Heparin (switch to alternative)
73
What are the blood film findings of autoimmune haemolytic anaemia and what test is performed?
Blood film = spherocytes Direct coombs test +ve

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