Haematology conditions Flashcards
What does a FBC test for? (5)
- RBC volume
- WBC volume
- Platelet volume
- Haemoglobin concentration
- Mean Corpuscular Volume
What does a reticulocyte count show?
- Shows how quickly the bone marrow is producing new RBCs
- Reticulocytes are immature RBCs
- Low = something preventing RBCs being produced
- High = RBCs are being lost or destroyed (bleeding), RBCs are being produced to compensate
What does a serum ferritin test show?
- Ferritin is iron storage protein
- Measures iron levels
- Can be falsely raised in inflammation and malignancy
What does a blood film show?
- Smears put on slides and looked at under microscope
- Thick = observes potential parasites
- Thin = observes RBC morphology and parasites
Anaemia: Classification results
- MCV <80 = Microcytic
- MCV 80-100 = Normocytic
- MCV >100 = Macrocytic
Anaemia: Symptoms (5)
- Pale skin
- Tachycardia
- Fatigue
- Headache
- Palpitations
Iron Deficiency Anaemia: Pathology and type
- Type of microcytic anaemia
- Low iron → decreased haem synthesis → less haemoglobin → lack of effective RBCs → anaemia
Iron Deficiency Anaemia: Causes (4)
- Low iron diet
- Blood loss
- Malabsorption
- Pregnancy
Iron Deficiency Anaemia: Symptoms (4)
- Brittle hair and nails
- Atrophic glossitis (smooth and inflamed tongue)
- Koilonychia (spoon shaped nails)
- Angular Stomatitis (inflammation of corners of mouth)
Iron Deficiency Anaemia: Differential Diagnosis
Thalassaemia
Iron Deficiency Anaemia: Investigations (4)
- FBC and blood film
- Serum Ferritin - will be low
- Reticulocyte count - reduced
- Endoscopy and colonoscopy to look for bleeds
Iron Deficiency Anaemia: Treatement
Ferrous Sulphate (oral iron)
Pernicious Anaemia: Pathology
- Autoimmune
- Type of macrocytic anaemia
- Intrinsic factor deficiency → reduced absorption of B12 in the terminal ilium
Pernicious Anaemia: Causes of B12 Deficiency (4)
- Diet (vegan)
- Gastrectomy
- Crohn’s disease
- Coeliac disease
Pernicious Anaemia: Symptoms (3)
- General anaemia symptoms
- Jaundice
- Polyneuropathy
Pernicious Anaemia: Investigations (4)
- FBC
- Blood film - would show macrocytic RBCs
- Autoantibody screen
- Serum B12 - low
Pernicious Anaemia: Treatment
Vitamin B12 tablets (hydroxocobalamin)
Folate Deficiency Anaemia: Causes (4)
- Diet (alcoholics, elderly)
- Malabsorption (Crohn’s or Coeliac)
- Pregnancy
- Drugs
Folate Deficiency Anaemia: Symptoms
- Anaemia symtpoms
- No neuropathy (distinguishes between B12 and folate deficiency)
Folate Deficiency Anaemia: Investigations (3)
- FBC
- Blood film - macrocytic anaemia
- Serum and erythrocyte folate levels
Folate Deficiency Anaemia: Treatment
- Treat underlying cause
- Folic acid supplementation (in pregnancy)
Haemolytic Anaemia: Pathology
- RBCs are destroyed before their normal 120 day lifespan
- Breakdown produces excess bilirubin
- Can be intravascular (in blood vessels) or extravascular (most commonly in reticuloendothelial system)
Haemolytic Anaemia: Causes (6)
- Sickle cell anaemia
- Thalassaemia
- Membranopathies
- Glucose-6-phosphate deficiency
- Autoimmune
- Infections (malaria)
Haemolytic Anaemia: Symptoms (4)
- Gallstones (excess bilirubin)
- Jaundice (excess bilirubin)
- Leg ulcers
- Enlarged spleen
Haemolytic Anaemia: Investigations (5)
- FBC - reduced haemoglobin
- Blood film - schistocytes (RBC fragments)
- High serum unconjugated bilirubin
- High urinary urobilinogen
- High faecal stercobilinogen
Haemolytic Anaemia: Treatment (3)
- Folate and iron supplements
- Immunosuppressives
- Splenectomy
Aplastic Anaemia: Description
Reduction in number of pluripotent stem cells → lack of haemopoiesis (RBC and platelet production)
Aplastic Anaemia: Causes (5)
- Congenital
- Acquired
- Chemotherapy
- Infection
- Pregnancy
Aplastic Anaemia: Symptoms (4)
- Anaemia symptoms
- Increased susceptibility to infection
- Increased bruising
- Increased bleeding
Aplastic Anaemia: Investigations (3)
- FBC - pancytopenia (low levels of all blood cells)
- Reticulocyte count - low or absent
- Bone marrow biopsy - hypocellular with fat spaces
Aplastic Anaemia: Treatments (4)
- Treat cause
- Blood/platelet transfusion
- BM transplant
- Immunosuppressants (anti-thymocyte globulin and ciclosporin)
Sickle Cell Anaemia: Description
Autosomal recessive condition, more common in afro-caribbean. Protects from malaria
Sickle Cell Anaemia: Pathology
- Mutation of B globin gene results in HbS variant
- Under stress RBCs become deoxygenated and HbS polymerises causing cells to sickle
- Sickling can cause destruction of RBCs and obstruction
Sickle Cell Anaemia: Symptoms (4)
- Acute pain in hands and feet
- Jaundice (Hb breakdown)
- Anaemia symptoms (rare due to compensatory Hb production)
- Acute chest pain (pulmonary vasculature obstruction)
Sickle Cell Anaemia: Investigations (3)
- Blood/heel prick test (neonates)
- FBC (low Hb, high reticulocyte)
- Blood film (sickled erythrocytes)
Sickle Cell Anaemia: Treatment (5)
- Folic acid
- Opiates
- Hydroxycarbamide (increases HbF conc)
- Stem cell transplant
- Antibiotics
Sickle Cell Anaemia: Complications
- Acute - pain, mesenteric ischaemia
- Chronic - renal impairment, pulmonary hypertension, joint damage
Thalassaemia: Description
- Autosomal recessive
- Decreased rate of production of one or more globin chains in red cell precursors causes reduced production and premature destruction of RBCs
Thalassaemia: α Thalassaemia description
- Gene deletions in the 4 genes that control production of alpha globin chains
- 2 deletions = mild microcytic anaemia
- 3 = severe
- 4 = stillborn
Thalassaemia: ß Thalassaemia pathology
Reduced beta chain production → excess alpha chain production → alpha chains bind with delta chains (HbA2) or gamma chains (HbF)
Thalassaemia: Investigations (2)
- FBC and blood film - show mmicrocytic anaemia, irregular and pale RBCs, increased reticulocytes
- Hb electrophoresis - shows increased HbF and low HbA (diagnostic)
Thalassaemia: Treatment (2)
- Blood transfusion
- Long term folic acid supplements
Glucose-6-Phosphate Dehydrogenase Deficiency: Description
- G6PD maintains glutathione in reduce state
- Glutathione protects RBCs from oxidative crisis
Glucose-6-Phosphate Dehydrogenase Deficiency: Epidemiology
- X-linked recessive (males)
- Protects from malaria
Glucose-6-Phosphate Dehydrogenase Deficiency: Symptoms (6)
- Asymptomatic until exposed to oxidative stressor
- Neonatal jaundice
- Chronic haemolytic anaemia
- Acute haemolysis
- Back pain
- Dark urine
DVT: Definition
Occlusion in normal vessels (usually in leg)
DVT: Causes (6)
- Surgery
- Immobility
- Leg fracture
- Oral contraceptive pill
- Flights
- Pregnancy
DVT: Risk Factors (3)
- Age
- Obesity
- Varicose veins
DVT: Symptoms (5)
- Calf pain and swelling
- Calf warmth
- Calf redness
- Ankle oedema
- Pitting oedema
DVT: Investigations (3)
- D dimer - coagulation screen (not diagnostic)
- FBC
- Angiography
- Doppler/Compression ultrasound - if popliteal vein can’t be squashed = diagnostic
DVT: Differential Diagnosis
Cellulitis
DVT: Treatment (3)
- LMW heparin - inactivates factor Xa
- Warfarin
- Direct acting Oral Anti-Coagulants (DOACs) e.g. apixaban
ALL: Epidemiology
Most common malignancy of childhood, good survival
ALL: Pathology
Mutation → clonal proliferation of lymphoblasts → divide uncontrollably → other blood cells in BM are crowded out → cytopenia (anaemia, thrombocytopenia and leukopenia)
ALL: Symptoms (7)
- Weight loss
- Appetite loss
- Fatigue (anaemia)
- Bleeding and bruising (thrombocytopenia)
- Infection (leukopenia)
- Painful lymph nodes
- Bone pain (BM expansion)
ALL: Investigations (3)
- FBC - anaemia and throbocytopenia
- Blood film - shows excess lymphoblasts
- BM biopsy - increased cellularity, increased lymphoblasts
ALL: Treatment (4)
- Chemo
- BM transplant
- Treat anaemia/thromboytopenia
- IV antibiotics if infections
AML: Epidemiology
Usually in older people, better survival if younger
AML: Pathology
Mutation → clonal proliferation of myeloblasts → divide uncontrollably → other blood cells in BM are crowded out → cytopenia (anaemia, thrombocytopenia and leukopenia)
AML: Symptoms (7)
- Weight loss
- Appetite loss
- Fatigue (anaemia)
- Bleeding and bruising (thrombocytopenia)
- Infection (leukopenia)
- Gum swelling (IMPORTANT differentiates ALL)
- Bone pain (BM expansion)
AML: Investigations (3)
- FBC - anaemia and throbocytopenia
- Blood film - shows excess myeloblasts
- BM biopsy - increased cellularity, increased myeloblasts
AML: Treatment (4)
- Chemo
- BM transplant
- Treat anaemia/thromboytopenia
- IV antibiotics if infections
CLL: Epidemiology
- Most common form
- Incurable
- Affects more older people
- More white people
CLL: Pathology
Uncontrolled proliferation and accumulation of mature B lymphocytes that didn’t apoptose → crowd out other cells in BM → cytopenia (anaemia, thrombocytopenia, leukopenia)
CLL: Symptoms (4)
- Early stages asymptomatic
- Fatigue (anaemia)
- Bleeding and bruising (thrombocytopenia)
- Infections (leukopenia)
CLL: Investigations (3)
- FBC - Lots of lymphocytes, Hypogammaglobulinemia (as no plasma cells), anaemia, thrombocytopenia
- Blood film - small mature lymphocytes with smear or smudge cells
- Immunophenotyping - excludes reactive lymphocytosis
CLL: Treatment (5)
- Wait in early stage
- Chemo in advanced stage
- Radiotherapy
- Splenectomy
- BM transplant
CML: Epidemiology
- Middle aged people
- Exposure to ionising radiation
CML: Symptoms (5)
- Asymptomatic
- Fever
- Weight loss
- Sweating
- Anaemia
CML: Investigations (3)
- FBC - leucocytosis (increased WBC), anaemia, normal/high platelets, Hb low
- BM biopsy - hypercellular marrow, increased myeloid progenitors (take from iliac crest)
- Genetic testing - for Philadelphia chromosome. Chromosome 9 and 22 are translocated to form this abnormality, causing an over-activation of tyrosine kinase
CML: Treatment (5)
- Imatinib - if Philadelphia chromosome positive
- Wait
- Chemo
- Stem cell transplant
- BM transplant
Hodgkin’s Lymphoma: Description
Malignant proliferation of lymphocytes which accumulate in lymph nodes causing lymphadenopathy (swelling)
Has Reed-Sternberg cells!
Hodgkin’s Lymphoma: Epidemiology
- Young adults
- Increased risk with history of Epstein-Barr Virus
Hodgkin’s Lymphoma: Symptoms (2)
- Painless lymphadenopathy
- B symptoms - night sweats, weight loss, loss of appetite, fever
Hodgkin’s Lymphoma: Investigations (3)
- CT/MRI of chest, abdomen and pelvis (staging)
- Lymph node biopsy - reed-sternberg cells
- FBC - may be normal or show normochromic, normocytic anaemia
Hodgkin’s Lymphoma: Staging
- Ann Arbor system
- Stage 1 - lymph nodes in one region
- Stage 2 - 2 or more lymph node regions on the same side of the diaphragm
- Stage 3 - lymph node regions on both sides of the diaphragm
- Stage 4 - widespread outside of lymph nodes
- Prefixed with A (no B symptoms) or B (with B symptoms)
Hodgkin’s Lymphoma: Treatment
- ABVD - Adriagmycin, Bleomycin, Vinblastine, Dacarbazine
- Stage 1-2a - short course ABVD then radiotherapy
- Stage 2b-4 - longer course ABVD
Non-Hodgkin’s Lymphoma: Pathology
Malignant clonal expansion of lymphocytes occurs at different stages of lymphocyte development. Majority B cell. No reed-sternberg cells
Non-Hodgkin’s Lymphoma: Symptoms (3)
- Painless lymphadenopathy
- B symptoms (night sweats, weight loss, loss of appetite, fever)
- Extranodal involvement symptoms (more common in Hodgkin’s)
Non-Hodgkin’s Lymphoma: Investigations (3)
- CT - staging
- Lymph node biopsy
- FBC - anaemia, raised ESR (erythrocyte sedimention rate), elevated WBC or thrombocytopenia suggests B involvement
Non-Hodgkin’s Lymphoma: Classification
Low grade:
- Slow growing
- Usually advanced presentation
- Incurable
- 9-11 years survival
High grade:
- More severe but 30% cure rate
Non-Hodgkin’s Lymphoma: Treatment (3)
- R-CHOP - Rituximab, Cyclophosphamide, Hydroxy-daunorubicin, O-Vincristine, Prednisolone
- Low grade - watch and wait, combination chemo, radiotherapy, BM transplant
- High grade - early (sort course R-CHOP with radiotherapy), advanced (R-CHOP and monoclonal antobodies)
Myeloma: Description
Cancer of plasma cells which usually produce antibodies
Myeloma: Epidemiology
- More men than women
- Mostly present around 60
- More common in Afro-Caribbeans
Myeloma: Pathology
Clonal proliferation of plasma cells → produce excess of one immunoglobulin (usually IgG or IgA)
Myeloma: Symptoms (4)
CRAB
- Calcium raised, cancer symptoms, confusion
- Renal failure
- Anaemia (infections and bleeding)
- Bone pain (increased osteoclast activity)
Myeloma: Investigations (4)
- Serum and urine electrophoresis - B2 microglobulin
- Blood film - Rouleaux formation (aggregates of RBCs)
- Urine - Bence Jones protein
- X-ray - pepperpot skull
Myeloma: Treatment (4)
- Chemo
- BM transplant
- Bisphosphonates
- Treat anaemia (RBC and erythropoietin transfusions)
Malaria: Causes
Protozoa infection transmitted by female mosquitos
Malaria: Stages
- Exo-erythrocytic stage
- Endo-erythrocytic stage
- Hypnozoite stage
Malaria: Pathology
- Infection travels to liver → multiply in hepatocytes → rupture releasing merozoites into blood → taken up into erythrocytes → develop further → rupture causing anaemia and fever
- Infected RBCs adhere to endothelium of small vessels → vascular occlusion → organ damage
Malaria: Symptoms (6)
- Fever
- Chills and sweats
- Jaundice
- Anaemia
- Fatigue
- Black urine
Malaria: Investigations (4)
- Thick blood film - detects parasite
- Thin blood film - identifies what parasite
- Rapid Diagnostic Test - detects plasmodium antigens in blood
- Fever + exotic travel = malaria until proven otherwise
Malaria: Treatment (2)
- Quinine (antimalarial)
- Doxycycline (antibiotic)
Polycythaemia: Pathology
- Absolute - increased RBC mass
- Secondary - hypoxia and high erythropoietin secretion
Polycythaemia: Symptoms (6)
- Headache
- Itching
- Fatigue
- Tinnitus
- Hypertension
- Angina
Polycythaemia: Investigations (3)
- FBC - raised WBC count, platelets, haemoglobin
- Genetic screening - JAK2 mutation (in 95%)
- BM biopsy - proliferation of granulocytes and megakaryocytes
Polycythaemia: Treatment (3)
- No cure
- Venesection (reduce RBCs)
- Low dose aspirin
Haemophilia: Types
- A - factor 8 deficiency
- B - factor 9 deficiency
Haemophilia: Epidemiology
- X-linked recessive disorder - men
- A is more common
Haemophilia: Symptoms (6)
- Easy bruising
- Haematomas
- Excess bleeding
- Plasma levels of factor 8/9 <1 - severe, bleeding into muscles and joints
- Levels 1-5 - severe bleeding after injury
- Levels >5 - mild, bleeding only with trauma or surgery
Haemophilia: Investigation
Prolonged Activated Partial Thromboplastin Time (APTT) - factor 8/9 in intrinsic pathway. Shows longer time
Haemophilia: Treatment (2)
- IV recombinant factor 8/9
- Synthetic vasopressin
Over-anticoagulation: RFs, Symptoms, Investigations
- Risk Factors - Vitamin K antagonists, DOACs
- Symptoms - Bruising, bleeding, haematemesis (vomiting blood), haemoptysis (coughing blood)
- Investigations - APTT and PTT
Disseminated Intravascular Crisis: Description, causes, symptoms
- Wide spread clotting and bleeding
- Occurs when balance between forming new clots and breaking down clots goes to making clots → depleted clotting factors → bleeding
- Causes - malignancy, septicaemia, trauma, infections
- Symptoms - bleeding from IV sites, nose and mouth, bruising , haemoptysis
Disseminated Intravascular Crisis: Investigations, treatment
- Investigations - PTT and APTT, blood film shows fragmented RBCs
- Treatment - treat underlying cause, transfusions, activated C protein
Thrombocytopenia: Description
- Platelet deficiency
- Either Immune thrombocytopenic purpura (ITP) or Thrombotic thrombocytopenic purpura (TTP) - ITP more common
