Haematology Flashcards

1
Q

What is vitamin b12 used in ?

A

For red blood cell development and also maintenance of the nervous system.

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2
Q

Causes of b12 deficiency

A
  1. pernicious anaemia = most common cause
  2. post gastrectomy
  3. vegan diet or a poor diet
  4. disorders/surgery of terminal ileum (site of absorption)
    - Crohn’s: either diease activity or following ileocaecal resection
  5. metformin (rare)
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3
Q

Features of b12 deficiency

A
  1. macrocytic anaemia
    - blood film: hypersegmented neutrophils
  2. sore tongue and mouth
  3. neurological symptoms
    - the dorsal column is usually affected first (joint position, vibration) prior to distal paraesthesia
  4. neuropsychiatric symptoms: e.g. mood disturbances
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4
Q

Causes of macrocytic anaemia

A
  1. vitamin b12 deficiency
  2. folate deficiency
  3. Liver disease/alcoholism
  4. Hypothyroidism
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5
Q

Causes of microcytic anaemia

A
  1. Iron deficiency

2. Thalassemia

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6
Q

Causes of normocytic anaemia

A
  1. Acute blood loss

2. Chronic renal disease

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7
Q

Features of macrocytic anaemia

A
  1. Loss of appetite/weight
  2. Brittle nails
  3. Tachycardia
  4. Diarrhoea
  5. Fatigue
  6. Fake skin (lips and eyelids)
  7. Dyspnoea
  8. Poor concentration/confusion
  9. Memory loss
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8
Q

Investigations for macrocytic anaemia

A

FBC – check for enlarged RBC and anaemia (MCV(high))

Haematocrit levels = low

Haemoglobin levels

Blood film to identify megaloblastic anaemia
–> hypersegmented polymorphoneucleated cells

LFT

TFT

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9
Q

Features of iron deficiency anaemia

A
  • Fatigue
  • Shortness of breath on exertion
  • Palpitations
  • Pallor
  • Nail changes: this includes koilonychia (spoon-shaped nails)
  • Hair loss
  • Atrophic glossitis
  • Post-cricoid webs
  • Angular stomatitis
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10
Q

Investigations for iron deficiency anaemia

A

FBC:

  • low Hb
  • low MCV
  • low ferritin

Blood film:

  • microcytic hypochromic RBC
  • poikilocytosis
  • dimorphic RBCs

Endoscopy:
R/O malignancy

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11
Q

What is aplastic anaemia?

A

This type of anaemia occurs when your body fails to produce enough new blood cells

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12
Q

Features of aplastic anaemia

A
  1. normochromic, normocytic anaemia
  2. leukopenia with
    thrombocytopenia
  3. features of acute lymphoblastic or myeloid leukaemia

Symptoms:

  • fatigue
  • SOB
  • tachycardia
  • pallor
  • headache
  • fever
  • failure to thrive
  • jaundice
  • murmurs
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13
Q

Investigations for aplastic anaemia

A

Blood:

  • pancytopenia
  • reticulocyte

Bone marrrow biopsy
- fewer cells than normal

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14
Q

What is sickle cell anaemia?

A

autosomal recessive condition that results for synthesis of an abnormal haemoglobin chain termed HbS
- more common in afro Caribbean decent

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15
Q

When do symptoms develop in sickle cell anaemia?

A

don’t tend to develop until 4-6 months when the abnormal HbSS molecules take over from fetal haemoglobin.

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16
Q

Symptoms of sickle cell anaemia

A
  1. Episodes of pain
  2. swelling of hands + feet
  3. frequent infections
  4. Vision disturbances
  5. delayed growth/puberty
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17
Q

Investigations for sickle cell anaemia

A

Definitive diagnosis = haemoglobin electrophoresis

Blood film: crescent moon

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18
Q

What is G6PD deficiency anaemia?

A

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red blood cell enzyme defect.

  • more common = Mediterranean and Africa
  • inherited in an X-linked recessive fashion.
  • Many drugs can precipitate a crisis as well as infections and broad (fava) beans
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19
Q

Features of G6PD deficiency anaemia

A
  1. neonatal jaundice
  2. intravascular haemolysis
  3. gallstones are common
  4. splenomegaly may be present
  5. Heinz bodies on blood films.
  6. Bite and blister cells may also be seen
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20
Q

Investigations for G6PD deficiency anaemia

A

Diagnosis made using G6PD enzyme assay

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21
Q

Drugs causing G6PD deficiency anaemia

A
  1. anti-malarials: primaquine
  2. ciprofloxacin
  3. sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas
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22
Q

Define haemolytic anaemia

A

a disorder in which red blood cells are destroyed faster than they can be made.

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23
Q

Causes of haemolytic anaemia

A

autoantibodies, medications, and underlying malignancy

hereditiary

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24
Q

Signs & Symptoms of haemolytic anaemia

A
Pallor
jaundice
Fatigue
SOB
dizziness
splenomegaly
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25
Q

Investigations for haemolytic anaemia

A

Bloods:

  • low hb
  • high MCHC
  • increase reticulocyte

Film:

  • RBC fragment
  • schistocytes
  • spherocytes
  • reticulocyte
  • nucleated RBC

Coombs test= positive
- immune mediated

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26
Q

What is idiopathic thrombocytopenic purpura (ITP)?

A

Immune-mediated reduction in the platelet count.

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27
Q

Symptoms for ITP

A
  1. petichae, purpura
  2. bleeding (e.g. epistaxis)
  3. catastrophic bleeding (e.g. intracranial)
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28
Q

Blood findings for ITP

A

Low platelet

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29
Q

Pathogenesis of Thrombotic thrombocytopenic purpura

A
  1. abnormally large and sticky multimers of von Willebrand’s factor cause platelets to clump within vessels
  2. in TTP there is a deficiency of ADAMTS13 (a metalloprotease enzyme) which breakdowns (‘cleaves’) large multimers of von Willebrand’s factor

(symptoms similar to ITP)

30
Q

What is Von Willebrand’s disease?

A

Most common inherited bleeding disorder

- VWF responsible for platelets sticking together

31
Q

Features of Von Willebrand’s disease

A

Large bruises or bruising easily

Frequent nose bleeds

Bleeding gums

Longer lasting bleeding from cuts

Heavy periods or heavy bleeding after labour

Long lasting tooth bleeds

32
Q

Investigation for Von Willebrand’s disease

A
  1. prolonged bleeding time
  2. APTT may be prolonged
  3. factor VIII levels may be moderately reduced
  4. defective platelet aggregation with ristocetin
33
Q

Define Haemophilia

A

Haemophilia is an X-linked recessive disorder of coagulation.

Haemophilia A = deficiency of factor VIII

Haemophilia B (Christmas disease) = deficiency of factor IX

34
Q

Signs & symptoms of haemophilia

A
  1. haemoarthroses
  2. haematomas
  3. prolonged bleeding after surgery or trauma
35
Q

Bloods test for haemophilia

A
  1. prolonged APTT
  2. bleeding time, thrombin time, prothrombin time normal
  3. Bloods : low Hb + haematocrit
36
Q

What is factor XI disorder?

A

Haemophilia C

37
Q

Define thrombocytopenia

A

Deficiency of platelets in the blood

38
Q

Causes of thrombocytopenia

A
Severe:
ITP
DIC
TTP
Haematological malignancy
Moderate:
heparin induced thrombocytopenia (HIT)
drug-induced (e.g. quinine, diuretics, sulphonamides, aspirin, thiazides)
alcohol
liver disease
viral infection (EBV, HIV, hepatitis)
pregnancy
SLE/antiphospholipid syndrome
vitamin B12 deficiency
39
Q

Diagnosis of thrombocytopenia

A
  • History
  • Examination
  • FBC
  • Peripheral smear

Review differential with above

Then bone marrow biopsy

40
Q

What is thalassaemia?

A

Inherited blood disorder that causes your body to have less haemoglobin than normal

41
Q

Alpha-thalassaemia vs Beta-thalassaemia

A

Alpha-thalassaemia: deficiency of alpha chains in haemoglobin

Beta-thalassaemia: Absence of beta globulin chains

42
Q

Features of Beta-thalassaemia major

A
  1. presents in the first year of life with failure to thrive and hepatosplenomegaly
  2. microcytic (blood film) anaemia
  3. HbA2 & HbF raised
  4. HbA absent
43
Q

Define acute leukaemia

A

Uncontrolled proliferation of partially developed white blood cells which build up in the blood

44
Q

Types of acute leukaemia

A

Acute myloid leukaemia (AML) – affects myeloid cells which fight bacterial infection, defending the body against arasites

Acute lymphoblasitc leukaemia (ALL) – affects lymphocytes which fight viral infections
- children

45
Q

Features of acute lymphoblastic leukaemia (ALL)

A
  1. anaemia: lethargy and pallor
  2. neutropaenia: frequent or severe infections
  3. thrombocytopenia: easy bruising, petechiae
  4. other:
    bone pain (secondary to bone marrow infiltration)
    splenomegaly
    hepatomegaly
    fever is present in up to 50% of new cases (representing infection or constitutional symptom)
    testicular swelling
46
Q

Investigations for acute lymphoblastic leukaemia (ALL)

A

Bloods:

  • low RBC
  • normal WCC

Bone marrow biopsy

47
Q

Define chronic lymphocytic leukaemia (CLL)

A

Slower growth of white blood cells than acute leukaemia – progresses slowly over many years

48
Q

Features of chronic lymphocytic leukaemia (CLL)

A

Does not cause any symptoms early on and may only be picked up on a routine blood test

Symptoms can include:

  • recurring infections
  • anaemia
  • bleeding and bruising easily
  • high temprature
  • nigh sweats
  • swollen lymph nodes
  • unintentional weight loss
49
Q

Diagnosis of chronic lymphocytic leukaemia (CLL)

A

Blood test:

  • large lymphocyte
  • lymphocyte count > 5.0 for > 3 months

Bone marrow biopsy

50
Q

Features of AML

A
  1. anaemia: pallor, lethargy, weakness
  2. neutropenia: whilst white cell counts may be very high, functioning neutrophil levels may be low leading to frequent infections etc
  3. thrombocytopenia: bleeding
  4. splenomegaly
  5. bone pain
51
Q

Bloods film for AML

A

Auer rods (seen with myeloperoxidase stain)

52
Q

Blood findings of AML

A

DIC

Thrombocytopenia

53
Q

Investigations for AML

A
  1. Bloods test:
    - low RBS
    - Normal WCC
    - Platelets
  2. Bone marrow biopsy
  3. Cytogenetic investigations
54
Q

Define CML

A

CML is a type of cancer that affects the white blood cells and tends to progress slowly over many years.

55
Q

Features of CML

A

60-70 years:
1. Anaemia: lethargy

  1. weight loss and sweating are common
  2. splenomegaly may be marked → abdo discomfort
  3. an increase in granulocytes at different stages of maturation +/- thrombocytosis
  4. decreased leukocyte alkaline phosphatase
  5. may undergo blast transformation (AML in 80%, ALL in 20%)
56
Q

Investigation for CML

A
  1. Blood tests – FBC, CRP/ESR, LTFs, U&Es –> changes in the number and pattern of white blood cells. This suggests the diagnosis of CML.
  2. A bone marrow biopsy
57
Q

What is lymphoma?

A

cancer that starts in the lymph glands or other organs of the lymphatic system.

58
Q

Types of lymphoma

A
  1. Hodgkin’s lymphoma = is a malignant proliferation of lymphocytes , presence of the Reed-Sternberg cell
  2. Non-Hodgkin’s lymphoma (every other type of lymphoma that is not Hodgkin’s lymphoma)
    - Affects B or T- cells
    - Further classified as high or low grade
59
Q

Features of Hodgkin’s lymphoma

A
  1. lymphadenopathy - painless, non-tender, asymmetrical
  2. systemic : weight loss, pruritus, night sweats, fever (Pel-Ebstein)
  3. alcohol pain in HL
  4. normocytic anaemia, eosinophilia
  5. LDH raised
60
Q

Investigation for Hodgkin’s lymphoma

A
  1. Biopsy of swollen lymph nodes
    - reed-sternberg cells
  2. CT, MRI, PET for staging
61
Q

Features of Non- Hodgkin’s lymphoma

A
  1. Painless lymphadenopathy (non-tender, rubbery, asymmetrical)
  2. Constitutional/B symptoms (fever, weight loss, night sweats, lethargy)
  3. Extranodal Disease - gastric (dyspepsia, dysphagia, weight loss, abdominal pain), lungs, skin, central nervous system (nerve palsies)
  4. bone marrow (pancytopenia, bone pain)
62
Q

Investigations for Non- Hodgkin’s lymphoma

A

Excisional node biopsy = diagnostic investigation

CT chest, abdomen and pelvis (to assess staging)

63
Q

Define polycythaemia vera

A
  • myeloproliferative disorder caused by clonal proliferation of a marrow stem cell leading to an increase in red cell volume
  • accompanied by overproduction of neutrophils and platelets.
64
Q

Features of polycythaemia vera

A
  • hyperviscosity
  • pruritus, typically after a hot bath
  • splenomegaly
  • haemorrhage (secondary to abnormal platelet function)
  • plethoric appearance
  • HTN
  • low ESR
65
Q

Investigation for polycythaemia vera

A
  1. Bloods:
    - raised haematocrit
    - raised neutrophils
    - raised basophils
    - raised platelets
  2. JAK2 mutation
  3. serum ferritin
  4. renal and liver function tests
66
Q

Other investigations for polycythaemia vera

A
  • red cell mass
  • arterial oxygen saturation
  • abdominal USS
  • serum erythropoietin level
  • bone marrow aspirate and trephine
  • cytogenetic analysis
  • erythroid burst-forming unit (BFU-E) culture
67
Q

Define Multiple myeloma

A

Haematological malignancy characterised by plasma cell proliferation.

It arises due to genetic mutations which occur as B-lymphocytes differentiate into mature plasma cells.

68
Q

Features of Multiple myeloma

A

CRABBI:

  1. Calcium
    - Hypercalcaemia occurs as a result of increased osteoclast activity within the bones
    - This leads to constipation, nausea, anorexia and confusion
  2. Renal impairement
    - Monoclonal production of immunoglobulins results in light chain deposition within the renal tubules
    - This causes renal damage which presents as dehydration and increasing thirst
  3. Anaemia
    - Bone marrow crowding suppresses erythropoiesis leading to anaemia
    - This causes fatigue and pallor
  4. Bleeding
    - bone marrow crowding also results in thrombocytopenia
    - which puts patients at increased risk of bleeding and bruising
  5. Bones
    - Bone marrow infiltration by plasma cells and cytokine-mediated osteoclast overactivity creates lytic bone lesions
    - This may present as pain (especially in the back) and increases the risk of fragility fractures
  6. Infection
    - a reduction in the production of normal immunoglobulins results in increased susceptibility to infection
69
Q

Investigations for Multiple myeloma

A
  1. Bone marrow aspirate and trephine biopsy
  2. Bloods:
    - thrombocytopenia
    - raised urea & creatinine
    - Film: rouleaux formation
  3. Serum or urine protein electrophoresis:
    - raised concentrations of monoclonal IgA/IgG proteins in serum.
    - In the urine = Bence Jones proteins
  4. Whole-body MRI = look for bone lesions
70
Q

Define leucopenia

A

decrease in the number of white blood cells, which puts a person at risk for infection

71
Q

Blood findings for leucopenia

A

FBC= lowered WCC