Haematology 2

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jaz_walker
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272141
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Haematology 2
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2014-04-27 17:41:35
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pathology
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pathology
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  1. A 15 year old woman presents with jaundice. Investigations show anaemia, and you note ankle ulcers. What 3 diseases are particularly likely to cause ankle ulcers?
    Sickle cell anaemia, thalassaemia intermedia, hereditary spherocytosis –
  2. A 3 year old child presents with dark urine. Investigations show haemoglobinuria, and you also note high serum Hb. There is a raised reticulocyte count, polychromasia and raised unconjugated bilirubin. Schumm's test is positive. What class of blood disorder would you consider?
    Intravascular haemolytic anaemia -
  3. A 3 year old child presents with dark urine. They have raised direct bilirubin and low haptoglobins. Schumm's test is negative. What class of blood disorder would you consider?
    Extravascular haemolytic anaemia -
  4. An 83 year old man presents with jaundice. Unconjugated bilirubin is raised. He has anaemia. Which two organs might be causing this?
    Renal and liver - secondary haemolytic anaemia
  5. A 41 year old female who is Blood group A has a blood transfusion. There is a clerical mistake and she is given group B blood. What is the most likely immunological consequence and what kind of immunoglobulin is involved?
    Intravascular haemolysis - IgM
  6. A 41 year old female who has had previous blood transfusions has a blood transfusion. A day later she has fevers, low urine output, hypotension. What is the most likely immunological problem and what kind of immunoglobulin is involved?
    Extravascular delayed haemolysis - due to previous blood transfusion sensitisation. IgG is involved.
  7. . Which protein is defective in hereditary spherocytosis?
    Ankyrin -
  8. A 4 year old male presents with fatigue and right upper quadrant pain. Blood film shows microcytic anaemia. Film shows microspherocytes and polychromasia. Raised reticulocyte count. Haptoglobins absent. What is the cause of his anaemia and RUQ pain?
    Heriditary spherocytosis - Pigment gallstones
  9. A 2 year old male presents with a fever and severe malaise. He is well when he presents to the GP. He has a history of neonatal jaundice. Blood film and count are normal. During an ill phase he has anaemia, raised indirect bilirubin and 'bit' and 'blister' cells. What is the cause of his abnormal blood film and what is the inheritance of this disease?
    G6PD deficiency - x linked inheritance
  10. A 29 year old woman presents with splenomegaly. Blood film shows microspherocytes, polychromasia. DAT is positive. What is this and what kind of antibody is usualy involved?
    Warm autoimmune haemolytic anaemia - IgG
  11. A 30 year old woman presents with recurrent coughts and colds. She has thrombocytopaenia. Blood film also shows microspherocytes and polychomasia. DAT is positive. What is this and what kind of anaemia is involved?
    Evans syndrome (thrombocytopaenia + warm autoimmune haemolysis) - Haemolytic extravascular anaemia
  12. A 31 year old woman presents wtih Raynaud's. She also has a fever with Rigors. Bloods show high urea, low GFR. Positive DAT. She also has haemoglobinurea. What is this and what kind of immunoglobulin is associated?
    Cold autoimmune haemolytic anaemia - IgM
  13. . What are the 3 causes of alloimmune haemolytic anaemia?
    Mismatched blood transfusions, haemolytic disease of the newborn, marrow or solid organ transplantation -
  14. Thrombotic thrombocytopaeninc purpura causes what kind of anaemia?.
    Microangiopathic haemolytic anaemia -
  15. A 68 year old man presents with headaches. He has a history of hypertension. You note his blood pressure has risen sharply. What kind of haemotological problem are they at risk of?
    Malignant hypertension - Microangiopathic haemolytic anaemia
  16. A 14 year old female presents with haematuria 2 weeks after a GI infection. Blood shows deeply staining fragmented red cells. What kind of haemotological problem is this?
    Haemolytic araemic syndrom - Microangiopathic haemolytic anaemia
  17. A 23 year old man complains of sporadic haematuria, usualy at night. Ham's test is positive. Red cells lack the CD55 or CD59 antigens. Genetic testing shows PIG-A mutation in haematopoetic stem cells. What is this and what haematological complication may occur?
    Paroxysmal nocturnal haemoglobinuria - Recurrent venous thromboses
  18. A 23 year old man complains of sporadic haematuria, usualy at night. Ham's test is positive. Red cells lack the CD55 or CD59 antigens. Genetic testing shows PIG-A mutation in haematopoetic stem cells. What is this and what may you find in the bone marrow?
    Paroxysmal nocturnal haemoglobinuria - Neutropenia and thrombocytopaenia.
  19. A 30 week old fetus is miscarried. The 20 week ultrasound showed hydrops fetalis. What kind of thalassaemia can cause this and how many deletions are necessary?
    Alpha thalassaemia - 4 deletions.
  20. A 20 week female baby presents iwth splenomegaly and poor feeding. Blood film shows markedly microcytic, hypochromic anaemia. What kind of thalassaemia can cause this and how many deletions are necessary?
    Haemoglobin H disease - 3 alpha deletions
  21. A 20 year old woman is noted to have microcytic hypochromic anaemia, which does not respond to iron treatment. What kind of thalassaemia can cause this and how many deletions are necessary?
    Alpha thalassaemia trait - 2 alpha deletions.
  22. A 4 month old female presents with failure to thrive and recurrent infections. On examination there is hepatosplenomegally, skull bossing. X ray shows 'hair-on-end' appearance. The child is severely anaemic. What kind of thalassaemia can cause this and how many deletions are necessary?
    Beta thalassaemia major - 2 beta deletions
  23. A 3 month old male presents with failure to thrive and recurrent infections. Blood film shows hypochromic, microcytic cells, target cells, erythroblasts, myelocytes. Mone marrow is hypercellular with erythroid hyperplasia. What kind of thalassaemia can cause this and what is mainline therapy?
    Beta thalassaemia major - Regular transfusions with iron chelation.
  24. . How many beta haemoglobin chains and how many alpha haemoglobin chains do most people have?. 4 alpha chains, 2 beta chains
    -
  25. You are the radiologist. The paediatrics wards sends you a skull x ray with the clinical details '5 months, anaemia ? Cause'. You see 'hair on end' and bossing. What would you consider?
    Beta thalassaemia major -
  26. A 6 year old child presents with hepatosplenomegaly and bone deformities. Blood film shows hypochromic microcytic anaemia, but otherwise well. Which thalassaemia would you consider and how many deletions are involved?
    beta thalassaemia intermedia - 1 beta deletion
  27. . Which mutation in which gene is responsible for sickle cell disease?
    B globin gene - valine for glutamine.
  28. A 24 year old male from west Africa is found to have anaemia. Blood film shows microcytic anaemia, with Howell Jolly bodies present and sickled cells. What are the 3 possible types of crisis associated with this disease?
    Sickle cell disease - Vaso-occlusive, visceral sequestration, aplastic
  29. . What do Howell-Jolly bodies signify?
    Spleen damage -
  30. A 24 year old male from west Africa is found to have anaemia. Blood shows target cells, Howell-Jolly bodies, sickled cells. What disease is this and which 3 vaccinations and 1 antibiotic should he have?
    Sickle cell disease - HiB, pneumococcal, meningococcal, oral penicillin
  31. A 6 month old male presents with recurrent infections. He has microcephaly. Blood film shows a pancytopaenia. Bone marrow shows hypoplasia with increased fat spaces. No abnormal cells are present. What autosomal recessive condition may cause this?
    Fanconi anaemia - Aplastic anaemia
  32. A 56 year old woman presents with recurrent infections. Blood film shows a pancytopaenia. Bone marrow shows hypoplasia with increased fat spaces. No abnormal cells are present. What 3 identifiable acquired causes are there for this?
    Viral infection (hepatitis), radiation, drug exposure - Aplastic anaemia
  33. A 56 year old woman presents with recurrent infections. Blood film shows a pancytopaenia. Bone marrow shows hypoplasia with increased fat spaces. No abnormal cells are present. What 5 drugs most commonly cause this?
    Chloramphenicol, sulphonamide, gold, chlorpromazine, carbimazole - Aplastic anaemia
  34. A 48 year old woman presents with shortness of breath. Blood film shows anaemia. Marrow shows reduced erythroblasts, with no abnormalities in other cell lines. Which 2 drugs can cause this?
    Red cell aplasia - Azathioprine, isoniazid.
  35. A 2 month old female presents with failure to thrive. Blood film shows anaemia. Marrow shows reduced erythroblasts, with no abnormalities in other cell lines. Which congenital cause is there of this?
    Red cell aplasia - Diamond-Blackfan anaemia
  36. A 79 year old woman presents with fatigue. Blood shows a macrocytic anaemia. Pancytopaenia. Bone marrow is hypercellular. Genetic testing shows a 5q mutation. What should you consider?
    Myelodysplasia -
  37. . What are the 3 myeloproliferative disorders and how do you define this class of disorders?.
    Polycythaemia vera, essential thrombocythaemia, myelofibrosis - Clonal proliferation of bone marrow stem cells leading to 1 or more haematopoetic lineages being excessively produced.
  38. A 58 year old woman with longstanding polycythaemia vera complains of fatigue and dizziness. What malignancy is common in people with myeloproliferative disease?
    Acute myeloid leukaemia -
  39. A 41 year old female is noted to have thrombocytosis. A month later his platelet level is normal. What aer the 5 most common causes of reactive thrombocytosis?
    Malignancy (lung, Gi, heart), bleeding, inflammatory joint disease, menstrual blood loss, chronic infection (TB, osteomyelitis) -
  40. A 71 year old man is noted to have polycythaemia. He does not have a JAK-2 mutation. What are the 6 most common causes of reactive polycythaemia?
    Chronic lung disease, cyanotic congenital heart disease, hyposplenism, renal disease, haemoglobin variants, tumours (HCC) -
  41. A 57 year old woman presents with headaches and visual disturbance and toe pain. Polycythaemia, JAK-2 mutation is present. What would you expect EPO levels to be and what is causing his toe pain?
    Low or normal - gout
  42. A 57 year old woman presents with headaches and visual disturbance and toe pain. Polycythaemia, JAK-2 mutation is present. What would you expect uric acid and WCC to be?
    uric acid - raised, WCC - raised or normal -
  43. A 57 year old woman presents with headaches and visual disturbance and toe pain. Polycythaemia, JAK-2 mutation is present. What haematological non-malignant complication may occur in 30% of patients?
    Myelofibrosis -
  44. A 41 year old man presents with a DVT. Platelet count is raised. There is platelet anisocytosis with circulating megakaryote fragments. JAK-2 is not mutated. Bone marrow is hypercellular, with increased numbers of megakaryotes. What is this and what are the 2 main causes of morbidity and mortality?
    Thrombosis and haemorrhage -
  45. . What are the 6 most common causes of marrow fibrosis?
    Metastatic cancer, acute leukaemia, myelodysplasia, hairy cell leukaemia, connective tissue disease (SLE), other e.g. TB -
  46. A 67 year old woman with a longstanding history of polycythaemia vera presents with massive splenomegaly. She comments on pruritis, weight loss, and night sweats. She has normochromic normocytic anaemia, film shows poikilocytosis. Bone marrow is a 'dry tap'. What is this and what might you expect of LDH?
    Myelofibrosis - raised LDH
  47. . Wat is the commonest leukaemia of Western countries and which cells are there a clonal proliferation of?
    CLL - B cells
  48. A 62 year old male has a lymphocytosis on incidental finding. He also has painless symmetrical lymphadenopathy and night sweats. Film shows a lymphocytosis, reduced serum immunoglobulins. What is this likely to be?
    CLL -
  49. A 71 year old black male presents with lower backache and recurrent infections. Uric acid is raised, GFR is reduced, there is a pancytopaenia. Blood film shows rouleaux. What is this likely to be?
    Multiple myeloma - ESR is raised
  50. A 73 year old Asian male presents with a pathological fracture. X rays show lytic lesions in the axial skeleton and osteoporosis. What is this likely to be and what may be found in the urine?
    Multiple myeloma - Bence Jones protein
  51. A 71 year old male is told they have Ann Arbour stage I disease. What does this mean?
    Hodgkin's lymphoma affecting only 1 lymph nodes -
  52. A 71 year old male is told they have Ann Arbour stage 2 disease. What does this mean?
    Hodgkin's lymphoma affecting two areas, both on one side of the diaphragm -
  53. A 71 year old male is told they have Ann Arbour stage 3 disease. What does this mean?
    Hodgkin's lymphoma affecting lymph nodes (or spleen) on both sides of the diaphragm -
  54. A 71 year old male is told they have Ann Arbour stage 4 disease. What does this mean?
    Hodgkin's lymphoma disseminated to extralymphatic organs -
  55. A 48 year old woman is told she has Burkitt's lymphoma. Which infectious agent is this associated with?
    Epstein-Barr virus -
  56. . Is extranodal disease more common in Hodgkin's or non-Hodgkin's disease?
    Non-Hodgkin's disease -
  57. A 61 year old man presents with recurrent epistaxes. He has painless bilateral cervical lymphadenopathy. thrombocytopaenia, erythrocytopaenia, leukocytosis, B2 microglobulin is raised. What is this and what are the two commonest forms?
    Non-Hodgkin's disease - follicular lymphoma, diffuse large B cell lymphoma.
  58. A 48 year old male presents with impaired wound healing. His prothrombin time is increased. What are the 3 most common causes for this?
    liver disease, warfarin, DIC -
  59. A 48 year old male presents with impaired wound healing. His APTT is increased. What are the 4 most common causes for this?
    Liver disease, heparin therapy, haemophilia A and B, DIC -
  60. A 48 year old male presents with impaired wound healing. His thrombin time is increased. What are the 3 most common causes for this?
    DIC, heparin therapy, fibrinolytics -
  61. A 48 year old male presents with impaired wound healing. Platelet aggregation tests are abnormal. What are the 3 most common causes for this?
    Drugs (e.g. Aspirin), uraemia, von Willebrand's disease -
  62. A 48 year old male presents with impaired wound healing. Bleeding time is increased. What are the 2 most common causes for this?
    Drugs (e.g. Aspirin), von Willebrand's disease -
  63. . How is Factor 8 bound and activated?
    It is bound by vWF and activated by thrombin -
  64. . How does antithrombin inhibit coagulation?
    Inactivated seriune proteases, principally factor 10a and thrombin -
  65. . How does Heparin work?
    It activated antithrombin and therefore inactivates 10a and thrombin -
  66. A 29 year old man presents with eczema and recurrent infections. Thrombocytopaenia, hypogammaglobulinaemia. What syndrome is this?
    Wiskott-Aldrich syndrome -
  67. A 2 day old baby is not handling well. Thrombocytopaenia. What 2 congenital infections can cause this?
    Rubella, cytomegalovirus -
  68. A 3 year old female presents wtih a purpuric rash following a viral infection. The father is concerned about meningitis. Thrombocytopaenia. Bone marrow and coagulation is normal. What is the most common cause of this and what is first-line pharmaceutical management?
    Autoimmune thrombocytopaenia - Typically resolves spontaneously, sometimes give steroids.
  69. A neonate has recurrent infections which resolve over a few weeks. Blood tests show thrombocytopaenia. What is the cause of this?
    alloimmune thrombocytopaenia -
  70. A 48 year old female develops a purpuric rash after a blood transufion. Blood tests show thrombocytopaenia. No fever, blood cultures negative. What is the cause of this?
    alloimmune thrombocytopaenia -
  71. . Which 2 drugs are most commonly associated with thrombocytopaenia?
    Quinine, heparin -
  72. A 29 year old man presents with a fever and reduced consciousness level. LFTs abnormal. There is thrombosis in the small vessels, red cell fragmentation and haemolytic anaemia and thrombocytopaenia. PT and APTT are normal. What is this and what is the management?
    Thrmobotic thrombocytopaenic purpura - Plasma exchange
  73. A 31 year old woman tells you that she has haemophilia A. What factor is deficient and how are PT and APTT affected?
    Factor 8 - APTT prolonged, PT normal.
  74. A 21 year old man presents with recurrent haemarthroses. What factor may be deficient and how are PT and APTT affected?
    Factor 8 - APTT prolonged, PT normal.
  75. A 23 year old man tells you he has haemophilia B. What factor is deficient and how are PT and APTT affected?
    Factor 9 - APTT prolonged, PT normal.
  76. A 20 year old female presents with bleeding from the mouth and menorrhagia. She has never had a haemarthrosis. APTT is prolonged, PT is normal. What are you most likely to suspect and what 2 factors are reduced?
    von Willebrand's disease - vWF, Factor 8
  77. . Which 6 factors are vitamin K-dependent?
    2, 7,9,10,C + S -
  78. A 49 year old woman develops shortness of breath and dies rapidly of a haemorrhage. Autopsy shows adrenal necrosis, renal failure. What may have been the cause of her death?
    Disseminated intravascular coagulation -
  79. A 49 year old woman develops shortness of breath and dies rapidly of a haemorrhage. Bloods show low fibrinogen, blood film shows microangiopathic haemolytic anaemia. PT nad APTT are raised. What may have been the cause of her death?
    Disseminated intravascular coagulation -
  80. . What two factors mean that newborns are at risk for haemorrhagic disease of the newborn?
    Liver immaturity, vit K deficiency -
  81. A 23 year old woman begins oestragen contraceptive and develops Budd-Chiari syndrome. What genetic defect might you screen for?
    Factor V Leiden -
  82. A 71 year old man takes aspirin to avoid risk of stroke. What end product is reduced by aspirin?
    Thromboxane A2 -
  83. A 61 year old woman is taking heparin before her operation. What 4 factors are irreversibly inactivated by heparin and by what mechanism?
    Factors 9a,10a,11a, prothrombin - works via antithrombin
  84. A 54 year old woman with rheumatoid arthiritis has anaemia. Reduced serum iron and total iron binding capacity. Normochromic anaemia. What protein released by the liver mediates this and how is ferritin affected?
    Hepcidin - Normal or raised
  85. A 54 year old woman with rheumatoid arthiritis has anaemia. You also note neutropaenia with splenomegaly. What syndrome is this?
    Felty's syndrome -
  86. A 53 year old man with Hodgkin's disease presents with fatigue. Normochromic, normocytic anaemia, erduced EPO, echinocytes. What would you check?
    Renal function -
  87. . What kind of anaemia might you expect in thyrotoxicosis?
    Microcytic -
  88. . What kind of anaemia might you expect in hypothyroidism?
    Macrocytic -
  89. An 81 year old female with alcoholic liver disease presents with splenomegaly. Blood tests show haemolysis and hypertriglyceridaemia. What syndrome is this?
    Zieve's syndrome -
  90. A 41 year old woman complains of loin pain. Biopsy shows fibrillary homogeneous eosinophilic protein material which is birefringent and stains Congo red. What is this substance?
    Amyloid -
  91. . Which virus causes fifth disease in children and what is a complication of this?
    B19 parvovirus - Aplastic anaemia
  92. . Which two bacteriae can cause toxin mediated haemolytic anaemia?
    Clostridium perfingens and staphylococcus aureus -
  93. A 34 year old man has a thrombocytosis. What is the most common cause of this?
    Reactive -
  94. A 24 year old woman is 17 weeks pregnant. How might you expect her plasma volume, red cell mass and MCV to change?
    Plasma volume - rise, red cell mass - rise less, MCV - rise -
  95. A 23 year old woman is 35 weeks pregnant. She presents with epigastric pain. Blood film shows haemolytic anaemia. She has elevated liver enzymes and low platelets. What is the diagnosis and what serious complication may occur?
    HELLP - DIC
  96. A 27 year old woman at her 20 weeks pregnancy check is noted to have gestational thrombocytopenia. How might this affect the foetus?
    Not at all -
  97. A baby is blood group A and the mother is blood group AB. What complications may you expect from this incompatibility?
    None - ABO antibodies are IgM and foetal AB antigens are not fully developed at birth -
  98. . What two precautions should be made on blood before transfusing to foetuses?
    CMV negative, irradiated -
  99. A 24 year old woman is 17 weeks pregnant. How might you expect her levels of vitamin K dependent factors and fibrinolytic activity to change?
    vit K factors increase, fibrinolysis - reduced -
  100. A 25 year old woman is Rhesus negative, para 0, gravida 1. On delivery, her levels of foetul cells in circulation are measured. What is this called?
    Kleihauer test -

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