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4th Year > Haematology > Flashcards

Haematology Flashcards

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
Q

How does G6PD commonly present?

A

Jaundice in neonates

OR with a haemolytic anaemia crisis due to a trigger

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26
Q

What is the blood film finding of G6PD deficiency?

A

Heinz bodies

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27
Q

What test is useful for autoimmune haemolytic anaemia?

A

Direct coombs test +ve (antibodies against RBCs)

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28
Q

What are the types of autoimmune haemolytic anaemia?

A

Warm type - at normal temperatures, more common, idiopathic

Cold type - at low temps (<10º), agglutination occurs, 2ndary to SLE, lymphoma, leukaemia etc

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29
Q

What ages are the different types of leukaemia most common?

A 
ALL = children and >45
CLL = >55
CML = >65
AML = >75

ALL CeLLmates have CoMmon AMbitions

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30
Q

How is leukaemia diagnosed?

A

Bone marrow biopsy (from iliac crest)

31
Q

What cells are overproduced in ALL and CLL?

A

B lymphocytes

32
Q

What condition is ALL associated with?

A

Downs syndrome

33
Q

What are the blood film findings of ALL and CLL?

A 
ALL = blast cells
CLL = smear/smudge cells (due to fragile cells during preparation process)
34
Q

What is Richter’s transformation?

A

Transformation of CLL to high grade lymphoma

35
Q

Which types of leukaemia are associated with Philadelphia chromosome?

A 
ALL = 30% of adults have Philadelphia chromosome
CML = all have Philadelphia chromosome

9,22 translocation

36
Q

What are the phases of CML?

A

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
Q

What can AML transform from?

A

Transformation from a myelodysplastic syndrome

38
Q

What are the blood film findings of AML?

A

Blast cells with Auer rods

39
Q

How is leukaemia treated?

A

Chemotherapy and steroids

Bone marrow transplant

40
Q

What is tumour lysis syndrome and how is it managed?

A

Dangerous side effect of chemotherapy
Release of uric acid causing an AKI

Allopurinol can be used to decreased uric acid

41
Q

What are the A and B symptoms of lymphoma?

A

A = lymphadenopathy (non-tender and rubbery, can be painful when drink alcohol)

B = fever, weight loss, night sweats

42
Q

How is Hodgkins lymphoma diagnosed?

A

Lymph node biopsy = Reed sternberg cells

43
Q

What is LDH used for?

A

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
Q

What are the outcomes of lymphoma?

How is lymphoma managed and what are the risks?

A

Good outcomes - curative in most cases
Chemotherapy - risk of leukaemia + infertility
Radiotherapy - risk of future cancers

45
Q

What are the risks for non-Hodgkins lymphoma?

A

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
Q

What is the Ann Arbour staging?

A

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
Q

What causes myeloma?

A

Overproduction of a single antibody by plasma cells (B lymphocytes)
Abnormal antibody/immunoglobulin produced = myoclonal paraprotein

48
Q

What is the difference between myeloma and multiple myeloma?

A

Myeloma = purely overproliferation by plasma cells

Multiple myeloma = myeloma affecting multiple areas of the body

49
Q

What is MGUS and smouldering myeloma?

A

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
Q

What type of immunoglobulins are overproduced in myeloma?

A

Any (IgA, IgG, IgM, IgD, IgE)

>50% are IgG

51
Q

How does myeloma present?

A 
CRAB
Calcium raised (hypercalaemia)
Renal failure
Anaemia
Bone lesions/pain
52
Q

Why does myeloma cause anaemia, bone pain and renal failure?

A

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
Q

How is myeloma diagnosed?

A

BLIP tests

  • Bence jones proteins (urine electrophoresis)
  • Light chain assay (serum free)
  • Immunoglobulins (serum)
  • Protein electrophoresis (serum)

Definitive = bone marrow biopsy (confirm diagnosis)

54
Q

How is myeloma managed?

A

1st line:

Chemotherapy + bortezomid/thalidomide/dexamethasone)

55
Q

What causes myeloproliferative disorders and what are they?

A

Uncontrolled proliferation of a single stem cell line (bone marrow cancers)

Primary myelofibrosis (haematopoietic stem cell)
Polycythemia vera (erythroid cells)
Essential thrombocytopaenia (megakaryocyte)
56
Q

What genetic mutations are associated with myeloproliferative disorders?

A

JAK2 (95% of polycythemia vera) - target with Ruxolitinib
MPL
CALR

57
Q

Why/where does extramedullary haematopoeisis occur in myeloproliferative disorders?

A

Spleen + liver (hepatosplenomegaly)

Bone marrow fibrosis requires haematopoeisis to occur elsewhere

58
Q

How does polycythaemia vera present and what is the 1st line treatment?

A

Ruddy complexion, conjunctival plethora (red eyes), splenomegaly

1st line = venesection (Jak2 inhibitors - ruxolitinib)
Aspirin to prevent thrombotic events

59
Q

How does essential thrombocythaemia (ET) present and what is the criteria for diagnosis?

A 
Presentation = anaemia + thrombosis (arterial + venous)
Diagnosis = PLT > 600
60
Q

How is essential thrombocythaemia managed?

A

Aspirin to prevent thrombus formation

Chemotherapy for disease control (hydroxyurea/hydroxycarbamide)

61
Q

How does (primary) myelofibrosis present and what are the findings on FBC?

A

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
Q

What are the blood film findings of myelofibrosis?

A

Tear drop RBCs

Blasts (immature RBC + WBC)

63
Q

What are the bone marrow biopsy findings of myelofibrosis?

A

‘Dry’ from scar tissue

64
Q

What is myelodysplastic syndrome?

A

Failure of maturation of myeloid bone marrow cells

affects myeloid cell line - anaemia, neuropaenia, thro,bocytopaenia

65
Q

What is the risk with myelodysplastic syndrome with a history of chemo/radiotherpay?

A

Richters transformation to AML

66
Q

How is myelodysplastic syndrome diagnosed and managed?

A

Diagnosis = abnormal FBC (low RBC, low neuts, low PLT), Bone marrow biopsy

Management - monitoring, blood transfusions for anaemia, stem cell transplant

67
Q

What are the effects of alcohol on blood?

A 
Thrombocytopenia (destruction of platelets)
Macrocytic anaemia (folate insufficiency)
68
Q

What medications cause thrombocytopenia?

A

Sodium valproate, methotrexate, isotretinoin, antihistamines, PPIs

69
Q

In what type of thrombocytopenia should PLT transfusion NOT be used?

A

TTP - thrombotic thrombocytopenic purpura

thrombosis causes low platelets - will contribute to thrombosis

70
Q

Under what value should a platelet transfusion be given in thrombocytopenia?

A

< 10 x10^9/L if otherwise well

<30 if symptomatic of bleeding

<50 if about to undergo invasive procedures or surgery

71
Q

How should ITP be treated in adults and children?

A

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
Q

How does heparin induced thrombocytopenia present? What is the management?

A

Patient on heparin with low platelets who develops clots

Stop Heparin (switch to alternative)

73
Q

What are the blood film findings of autoimmune haemolytic anaemia and what test is performed?

A

Blood film = spherocytes

Direct coombs test +ve

4th Year (3 decks)

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