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Haematology laboratory test result
interpretation and an approach to
anaemia diagnosis
Dr. Andy Hughes
Consultant Haematol...
Case study 1
• 25 year old female Cypriot.
• c/o tiredness -> FBC
• Hb = 10.5
• MCV = 65 (82-96)
• RBC = 5.5 (3.9-5.0)
• M...
Case study 1
• Microcytic anaemia
• Possible diagnoses?
• Iron deficiency
• Thalassaemia trait
• Additional tests?
• Ferri...
Case study 2
• 70 year old Caucasian male
• c/o recurrent mouth ulcers
• Hb = 10
• MCV = 105
• WCC = 2.1 (>4.0)
• Neutros ...
Case study 2
• Macrocytic anaemia with a pancytopenia
• Further investigations?
• B12 = 180 (>240)
• Serum folate = 5.5
• ...
Case study 2
• Course of B12 injections
• Hb 10.2
• Referred for bone
marrow
• Myelodysplasia
Pelger neutrophil
Bone marrow
Anaemia Classification
The FBC
• Hb
– anaemia
• Hct/PCV
– polcythaemia
• RBC
– iron deficiency and
thalassaemia trait
• RBC indices
• MCV
– Anaem...
Red cell distribution width - RDW
• Measure of RBC size
variation (anisocytosis)
• Increased in iron
deficiency
• Normal i...
Microcytic anaemia
Iron deficiency/Thal trait
• Iron deficiency
• Decreased Hb and RBC
• Decreased MCV+
• Decreased MCHC
• Increased RDW
• Th...
Iron deficiency/thal trait
Blood films
IRON DEFICIENCY THALASSAEMIA TRAIT
Iron Deficiency
• Always confirm with
ferritin
• May be falsely normal
with active
acute/chronic disease
• If >50 makes ir...
Failure to respond to iron
• Inadequate treatment
– Dose and/or duration
– Avoid slow release preparations
• Continued cau...
Parenteral iron
• Indications:
• Genuine intolerance
• Malabsorption
• Gastric/upper GI surgery
• Inflammatory bowel disea...
Increased Ferritin
• Infection/inflammation
• Chronic liver disease; esp. alcohol related
• Malignancy
• Repeated transfus...
Case study 3
• 65 year old Caucasian male.
• Known stable, mild CLL; no treatment.
• c/o increasing fatigue and breathless...
Case study 3
• Initial tests
• Hb = 8.
• MCV = 102.
• WCC = 30 (prev. 15).
• Lymphs = 25 (prev. 12).
• Platelets = 300.
• ...
Case study 3
• Macrocytic anaemia.
• Macrocytosis due to increased reticulocytes
due to secondary haemolysis.
• Haemolysis...
Tests for haemolysis
• Initial evaluation
• LFTs
– Inc. bilirubin only
• Retics - increased
• LDH - increased
• Haptoglobi...
Haemolysis –blood films
Sickle cell Spherocytes
Macrocytosis
Blood films in macrocytosis
Target cells in liver disease Polychromasia
B12 and folate deficiency Megaloblastic
anaemia
Hypersegmented polymorphs Oval macrocytes and poikilocytes
Megaloblastic bone marrow
Megaloblastic anaemias
• Dec. Hb with raised MCV (often >115).
• Inc. RDW; can proceed a rise in the MCV.
• With severe an...
Vitamin B12 deficiency
• B12 Levels can vary; may need to repeat.
• Check diet; especially vegans.
• MCV may be helpful if...
B12 levels
• >250 ng/L – normal.
• <150 (100) – probably genuine deficiency.
• 200 -250 – borderline; repeat level.
• 150-...
Folate deficiency
• Serum folate sensitive to recent dietary
changes (eg anorexia/fasting).
• >4 genuine deficiency unlike...
Isolated macrocytosis
• Excess alcohol; consider GGT.
• Chronic liver disease; check albumin.
• Pregnancy.
• Myelodysplasi...
Case study 4
• 60 year old Caucasian male.
• c/o breathlessness.
• Hb= 9.0.
• MCV = 88.
• WCC and platelets normal.
Case study 4
• Investigations:
• Haematinics normal.
• TSH normal.
• LFTs normal.
• ESR 30.
• Creatinine 250.
• Possible c...
Normocytic anaemia
• Non-specific.
• Most non-haematinic deficiency causes.
• Can be seen with iron deficiency.
• Combined...
Anaemia evaluation
• Initial tests
• FBC:
• Hb (severity)
• MCV (type)
• WCC/platelets
– Bone marrow disease
– Megaloblast...
Functional anaemia classification
End of part one!
ANY QUESTIONS?
Polycythaemia
• Suspect if:
– Men – Hb >18.5/HCT >52%
– Women – Hb >16.5/Hct >48%
• Persistent.
– Always repeat the FBC.
Polycythaemia - causes
• Primary (PRV/PV)
• Itching (bath/shower)
• Splenomegaly
• Raised WCC/platelets
• Raised uric acid...
Polycythaemia – new tests
• Erythropoietin
– Low with PRV
– Raised with:
• COPD
• Renal tumours
• Not always clear cut.
• ...
Neutrophilia
• Infection/inflammation
• Malignancy
• Myeloproliferative diseases:
– PRV/1o
Thrombocythaemia/Myelofibrosis
...
Neutrophila – blood films
Reactive neutrophilia Chronic myeloid leukaemia
Eosinophilia
• Common
• Drugs
• Allergy
– Asthma; eczema;
urticaria
• Parasitic infection
• Less common
• CTDs – esp. PAN
...
Case study 5
• 75 year old Caucasian
male
• Routine FBC
• Hb =14
• WCC =20
• Neutros = 5
• Lymphs = 15
• Platelets = 300
•...
Case study 5
• Likely diagnosis?
• Chronic lymphatic
leukaemia.
• What physical signs
would you look for?
• Enlarged lymph...
Lymphocytosis
• Infections; esp. viral
– Age of patient
– Blood film
• Lymphoproliferative diseases:
– CLL
• Age; enlarged...
Lymphocytosis – blood films (1)
Reactive lymphocytes CLL
Lymphocytosis – blood films (2)
Lymphoma cells Hairy cells
Case study 6
• 40 year old Afro-
Caribbean male
• Routine FBC for HT.
• Hb = 14
• WCC = 2.8
• Neutros = 1.0
• Platelets = ...
Neutropenia
• Benign-ethnic (Afro-Caribbean).
• Infections; esp. viral. ?age.
• Drugs/recent chemotherapy.
• Bone marrow d...
Lymphopenia
• SLE/RA
• HIV
• Chemotherapy
• Malignancies – eg Hodgkin’s disease
• Sarcoidosis
Case study 7
• 35 year old Caucasian
female
• c/o joint pains
• Hb = 12
• WBC = 4
• Neutros = 2
• Platelets = 80
• MPV = 1...
Thrombocytopenia
• Isolated:
• Drugs
• Autoimmune – ITP
• Immune secondary to:
– SLE; LPDs.
• HIV and other
immunodeficien...
Thrombocytopenia - investigations
• ANA
• Antiphospholipid tests:
– Anticardiolipin antibodies
– Lupus anticoagulant tests...
Thrombocytopenia in pregnancy
• Gestational
– Mild
– 2nd
and 3rd
trimester
• Associated with PIH syndromes
• Autoimmune (I...
Thrombocytosis
• Reactive:
• ?recent change
• Infection/inflammation
– ESR/CRP
• Malignancy
• Iron deficiency/bleeding
• P...
Case study 8
• 70 year Caucasian female
• c/o back pain
• FBC - normal
• U and E – normal
• LFTS - raised globulins 42
• P...
Raised globulins
• Often a non-specific reaction to infection or
inflammation.
• Protein electrophoresis usually shows a
d...
Protein electrophoresis
• Paraproteins:
• Myeloma (IgG or A).
• Lymphoproliferative
diseases (IgM, G or A):
– NHL
– Walden...
Myeloma Vs. MGUS
• Myeloma
• New bone pain
• End organ failure
– Anaemia
– Increased creatinine
– Hypercalcaemia
• Higher ...
Myeloma bone lesions
Myeloma bone marrow
THANKS!
ANY QUESTIONS?
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Transcript of "Haematology laboratory test result interpretation"

  1. 1. Haematology laboratory test result interpretation and an approach to anaemia diagnosis Dr. Andy Hughes Consultant Haematologist
  2. 2. Case study 1 • 25 year old female Cypriot. • c/o tiredness -> FBC • Hb = 10.5 • MCV = 65 (82-96) • RBC = 5.5 (3.9-5.0) • MCHC = 32 (32-35) • RDW = 12 (10-14)
  3. 3. Case study 1 • Microcytic anaemia • Possible diagnoses? • Iron deficiency • Thalassaemia trait • Additional tests? • Ferritin – 50; iron deficiency unlikely • Hb A2 – 5% - raised • Confirms β thalassaemia trait
  4. 4. Case study 2 • 70 year old Caucasian male • c/o recurrent mouth ulcers • Hb = 10 • MCV = 105 • WCC = 2.1 (>4.0) • Neutros = 0.5 (>2.0) • Platelets = 120 (>150)
  5. 5. Case study 2 • Macrocytic anaemia with a pancytopenia • Further investigations? • B12 = 180 (>240) • Serum folate = 5.5 • LFTs - normal • TSH - normal • Retics = 25 (<1%)
  6. 6. Case study 2 • Course of B12 injections • Hb 10.2 • Referred for bone marrow • Myelodysplasia Pelger neutrophil Bone marrow
  7. 7. Anaemia Classification
  8. 8. The FBC • Hb – anaemia • Hct/PCV – polcythaemia • RBC – iron deficiency and thalassaemia trait • RBC indices • MCV – Anaemia classification • MCH/MCHC/RDW – Differentiation of microcytic anaemias
  9. 9. Red cell distribution width - RDW • Measure of RBC size variation (anisocytosis) • Increased in iron deficiency • Normal in thalassaemia trait • Normal/raised in anaemia of ch. Disease • Can be very high in megaloblastic anaemias • ?practical value
  10. 10. Microcytic anaemia
  11. 11. Iron deficiency/Thal trait • Iron deficiency • Decreased Hb and RBC • Decreased MCV+ • Decreased MCHC • Increased RDW • Thrombocytosis • Film – pencil cells • Thalassaemia trait • Normal/dec. Hb and normal/inc. RBC • Decreased MCV++ • Normal MCHC • Normal RDW • Normal platelet count • Film – target cells
  12. 12. Iron deficiency/thal trait Blood films IRON DEFICIENCY THALASSAEMIA TRAIT
  13. 13. Iron Deficiency • Always confirm with ferritin • May be falsely normal with active acute/chronic disease • If >50 makes iron deficiency less likely • In early deficiency or with mixed deficiencies MCV may be normal • Causes • Diet – Young and old • Malabsorption – Coeliac (tTG) • Chronic blood loss – GIT – Uterine – UGT
  14. 14. Failure to respond to iron • Inadequate treatment – Dose and/or duration – Avoid slow release preparations • Continued cause – Bleeding • Malabsorption • Poor compliance • Intolerance due to side effects • Incorrect diagnosis
  15. 15. Parenteral iron • Indications: • Genuine intolerance • Malabsorption • Gastric/upper GI surgery • Inflammatory bowel disease • IM – CosmoFer – Z-track technique • IV – Venofer as repeated small volume injections – CosmoFer as TDI • Problem with allergy/anaphylaxis • Avoid if h/o – Drug reaction(s) – Allergy – Asthma
  16. 16. Increased Ferritin • Infection/inflammation • Chronic liver disease; esp. alcohol related • Malignancy • Repeated transfusions • Hereditary haemochromatosis – >1000 is risk of organ damage • Porphyria Cutanea Tarda • Prolonged iron therapy without iron deficiency
  17. 17. Case study 3 • 65 year old Caucasian male. • Known stable, mild CLL; no treatment. • c/o increasing fatigue and breathlessness. • o/e jaundiced. • No enlarged lymph nodes or spleen.
  18. 18. Case study 3 • Initial tests • Hb = 8. • MCV = 102. • WCC = 30 (prev. 15). • Lymphs = 25 (prev. 12). • Platelets = 300. • Bilirubin = 60 (<20). • Other LFTs normal. • Additional tests • Retics 300. • LDH 900 (<450) • Conjugated bilirubin = 10. • Direct antiglobulin (Coombs) test DAT} – positive.
  19. 19. Case study 3 • Macrocytic anaemia. • Macrocytosis due to increased reticulocytes due to secondary haemolysis. • Haemolysis caused the jaundice. • Haemolysis autoimmune (positive DAT) • Diagnosis: – Autoimmune haemolysis associated with known CLL. • Treatment steroids.
  20. 20. Tests for haemolysis • Initial evaluation • LFTs – Inc. bilirubin only • Retics - increased • LDH - increased • Haptoglobin - decreased • Additional tests • Blood film – Polychromasia – Spherocytes – Sickle cells • Hb electrophoresis • Direct Antiglobulin (Coombs) test
  21. 21. Haemolysis –blood films Sickle cell Spherocytes
  22. 22. Macrocytosis
  23. 23. Blood films in macrocytosis Target cells in liver disease Polychromasia
  24. 24. B12 and folate deficiency Megaloblastic anaemia Hypersegmented polymorphs Oval macrocytes and poikilocytes
  25. 25. Megaloblastic bone marrow
  26. 26. Megaloblastic anaemias • Dec. Hb with raised MCV (often >115). • Inc. RDW; can proceed a rise in the MCV. • With severe anaemia  inc. in poikilocytosis  dec. in MCV and a rise in RDW ++. • Other cytopenias. • Film – hypersemented polymorphs. • Very high LDH. • Slightly increased bilirubin.
  27. 27. Vitamin B12 deficiency • B12 Levels can vary; may need to repeat. • Check diet; especially vegans. • MCV may be helpful if >115 • Patient may not be anaemic. • May be neurological symptoms only, including dementia. • Levels can fall in pregnancy. • Autoantibody tests are useful (IFA/GPC). • Schilling test of limited use. • Trial of B12.
  28. 28. B12 levels • >250 ng/L – normal. • <150 (100) – probably genuine deficiency. • 200 -250 – borderline; repeat level. • 150-200 – possible deficiency: – Clinical circumstances; – Diet (?vegan); – Repeat/sequential levels; – ?antibody studies.
  29. 29. Folate deficiency • Serum folate sensitive to recent dietary changes (eg anorexia/fasting). • >4 genuine deficiency unlikely. • <2 (?<3) genuine deficiency. • 3-4 borderline; repeat. • MCV may be helpful if >115. • Think of malabsorption (eg Coeliac): – Consider tTG.
  30. 30. Isolated macrocytosis • Excess alcohol; consider GGT. • Chronic liver disease; check albumin. • Pregnancy. • Myelodysplasia. • Drugs: – Hydroxyurea (often >120) – Methotrexate – Azathioprine
  31. 31. Case study 4 • 60 year old Caucasian male. • c/o breathlessness. • Hb= 9.0. • MCV = 88. • WCC and platelets normal.
  32. 32. Case study 4 • Investigations: • Haematinics normal. • TSH normal. • LFTs normal. • ESR 30. • Creatinine 250. • Possible cause of anaemia? • 2o to renal impairment • Additional tests: • EPO level = 15. • Ferritin • Retics 30 (<1%). • Diagnosis – Anaemia secondary to chronic renal failure. • Treatment – EPO 60u/kg x1/week. – +/- iron.
  33. 33. Normocytic anaemia • Non-specific. • Most non-haematinic deficiency causes. • Can be seen with iron deficiency. • Combined deficiencies. • Recent bleeding. • Anaemia of chronic disease; can be microcytic.
  34. 34. Anaemia evaluation • Initial tests • FBC: • Hb (severity) • MCV (type) • WCC/platelets – Bone marrow disease – Megaloblastic anaemia • Blood film exam • Subsequent tests • Reticulocyte count – Inc. with haemolysis – Dec. with marrow disease or suppression • Haematinics – Esp. with dec/inc. MCV • Creatinine • LFTs • CRP • Protein electrophoresis • TSH
  35. 35. Functional anaemia classification
  36. 36. End of part one! ANY QUESTIONS?
  37. 37. Polycythaemia • Suspect if: – Men – Hb >18.5/HCT >52% – Women – Hb >16.5/Hct >48% • Persistent. – Always repeat the FBC.
  38. 38. Polycythaemia - causes • Primary (PRV/PV) • Itching (bath/shower) • Splenomegaly • Raised WCC/platelets • Raised uric acid/gout • Secondary • Heavy smoking/COPD – Oxygen saturation – At rest and post exercise • Sleep apnoea/obesity – h/o snoring – Day time sleepiness • Renal lesions – esp. Ca – Abdominal USS
  39. 39. Polycythaemia – new tests • Erythropoietin – Low with PRV – Raised with: • COPD • Renal tumours • Not always clear cut. • JAK2 mutations • Janus Kinase • Associated with cell signaling pathways • Mutations associated with increased cell proliferation • ~95% of PRV • ~50% PT/MF • Normal with other causes of polycythaemia
  40. 40. Neutrophilia • Infection/inflammation • Malignancy • Myeloproliferative diseases: – PRV/1o Thrombocythaemia/Myelofibrosis – Raised Hct or platelets; splenomegaly • Steroid treatment • Chronic myeloid leukaemia
  41. 41. Neutrophila – blood films Reactive neutrophilia Chronic myeloid leukaemia
  42. 42. Eosinophilia • Common • Drugs • Allergy – Asthma; eczema; urticaria • Parasitic infection • Less common • CTDs – esp. PAN • Some skin diseases: – Pemphigus; DH • Malignancy: – Hodgkin’s disease • Sarcoidosis Eosinophil
  43. 43. Case study 5 • 75 year old Caucasian male • Routine FBC • Hb =14 • WCC =20 • Neutros = 5 • Lymphs = 15 • Platelets = 300 • Blood film: • Mature lymphocytes • Smear cells
  44. 44. Case study 5 • Likely diagnosis? • Chronic lymphatic leukaemia. • What physical signs would you look for? • Enlarged lymph nodes or spleen. • Additional tests • Immunoglobulins • Direct Antiglobulin Test • Β2microglobulin • Immunophenotyping • Cytogenetics • Bone marrow -no
  45. 45. Lymphocytosis • Infections; esp. viral – Age of patient – Blood film • Lymphoproliferative diseases: – CLL • Age; enlarged lymph nodes or spleen; blood film – Lymphomas – Hairy cell leukaemia
  46. 46. Lymphocytosis – blood films (1) Reactive lymphocytes CLL
  47. 47. Lymphocytosis – blood films (2) Lymphoma cells Hairy cells
  48. 48. Case study 6 • 40 year old Afro- Caribbean male • Routine FBC for HT. • Hb = 14 • WCC = 2.8 • Neutros = 1.0 • Platelets = 300 • Relevant history/exam? • Recurrent infection or mouth ulcers – no. • Drugs – Losartan for HT. • Rheumatological symptoms – no. • Enlarged spleen – no. • Likely diagnosis? • Benign ethnic neutropenia.
  49. 49. Neutropenia • Benign-ethnic (Afro-Caribbean). • Infections; esp. viral. ?age. • Drugs/recent chemotherapy. • Bone marrow disease (Hb; platelets). • Megaloblastic anaemia (Hb/MCV). • Immune: – Autoimmune – SLE – RA (Felty’s syndrome; associated splenomegaly).
  50. 50. Lymphopenia • SLE/RA • HIV • Chemotherapy • Malignancies – eg Hodgkin’s disease • Sarcoidosis
  51. 51. Case study 7 • 35 year old Caucasian female • c/o joint pains • Hb = 12 • WBC = 4 • Neutros = 2 • Platelets = 80 • MPV = 12 • No h/o excess bleeding • Possible diagnoses: • Rheumatological – SLE • Immune – ITP • Drugs • HIV
  52. 52. Thrombocytopenia • Isolated: • Drugs • Autoimmune – ITP • Immune secondary to: – SLE; LPDs. • HIV and other immunodeficiency syndromes • Ch. Liver disease with portal HT • Alcohol (?MCV) • Antiphospholipid syndrome • Other cytopenias: • Megaloblastic anaemias – Hb and MCV • Bone marrow disease – MDS – Leukaemias – Aplastic anaemia
  53. 53. Thrombocytopenia - investigations • ANA • Antiphospholipid tests: – Anticardiolipin antibodies – Lupus anticoagulant tests • HIV test; esp. in at risk individuals • LFTs • B12 and folate
  54. 54. Thrombocytopenia in pregnancy • Gestational – Mild – 2nd and 3rd trimester • Associated with PIH syndromes • Autoimmune (ITP) – Often seen in 1st trimester • HIV
  55. 55. Thrombocytosis • Reactive: • ?recent change • Infection/inflammation – ESR/CRP • Malignancy • Iron deficiency/bleeding • Post splenectomy • Primary (MPDs): • Persistent increase • 1o Thrombocythaemia • PRV • Myelofibrosis – Enlarged spleen • CML – Low Hb – Raised WCC – Splenomegaly
  56. 56. Case study 8 • 70 year Caucasian female • c/o back pain • FBC - normal • U and E – normal • LFTS - raised globulins 42 • Protein electrophoresis showed IgG paraprotein 5 • Other Igs (A and M) normal • Possible diagnoses: • Myeloma? • “benign”? – MGUS • Further investigations: • Urine for BJP - negative • X-rays – OA changes only • Calcium – normal • Likely diagnosis? • MGUS.
  57. 57. Raised globulins • Often a non-specific reaction to infection or inflammation. • Protein electrophoresis usually shows a diffuse increase in gamma globulins. • Think of HIV in risk groups. • Electrophoresis may show a paraprotein.
  58. 58. Protein electrophoresis • Paraproteins: • Myeloma (IgG or A). • Lymphoproliferative diseases (IgM, G or A): – NHL – Waldenström’s (IgM) – CLL • Amyloidosis. • MGUS. 1 = Normal 2 = Diffuse increase in globulins 3 & 4 = paraproteins
  59. 59. Myeloma Vs. MGUS • Myeloma • New bone pain • End organ failure – Anaemia – Increased creatinine – Hypercalcaemia • Higher concentration paraprotein • Immune paresis • Bence Jones protein • Lytic lesions on X-rays • Typical bone marrow findings • MGUS • Asymptomatic • No end organ failure • Low concentration paraprotein • No immune paresis • No/minimal BJP • No skeletal lytic lesions • Bone marrow not always necessary
  60. 60. Myeloma bone lesions
  61. 61. Myeloma bone marrow
  62. 62. THANKS! ANY QUESTIONS?
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