Haem Flashcards
27F. Menorrhagia, anaemia.
What kind of anaemia does she have, and what is the treatment?
Iron deficiency anaemia.
Ferrous sulphate
19M, university student. Presents to A&E with headache and breathlessness. Family lives in Nigeria.
Investigations show severe anaemia, reticulocytosis, bite cells.
Recent prescription of nitrofurantoin for a UTI.
Most likely cause of symptoms?
Oxidative crisis due to G6PD deficiency
GS investigation for DVT
Doppler US
Which of these is not a cause of thrombocytopenia?
A. Chronickidneydisease
B. HIV
C. Excessive alcohol consumption
D. Myeloma
E. Heparin
Heparin
A 3 year-old is a patient on the oncology ward following severe anaemia, recurrent infection, and pain in her bones. Most likely diagnosis?
ALL
What is the diagnostic test for sickle cell anaemia?
Hb electrophoresis
Most appropriate treatment for CML?
Imatinib (tyrosine kinase inhibitor)
What is the pathophysiology of hereditary spherocytosis?
It is caused by defects in the red cell membrane, resulting in them having an increased permeability to sodium
What is the infective stage of the malaria parasite?
Sporozite
What are you most likely to see on a blood smear in suspected ALL?
Blast cells
What malignancy is Philadelphia Chromosome associated with?
CML
Explain the mechanism of action of Imatinib
Tyrosine kinase inhibitor
A 74 year old gentleman is investigated for multiple myeloma following a fragility fracture he sustained at home.
Which of these findings on a series of blood tests would NOT be suggestive of myeloma?
A. Anaemia
B. Hypocalcemia
C. Raised Creatinine
D. Raised Urea
E. Monoclonal proteins in Serum
Hypocalcaemia
HypER rather than hypOcalcemia is seen in myeloma
What would you expect to see on a blood film for a patient with multiple myeloma?
Rouleaux formation. RBCs look like a stack of coins
DVT.
What is the duration of treatment with Apixaban?
6 months
68M. Thirst, constipation, confusion. Osteoarthritis had returned, severe back pain in the thoracic region. FBC shows anaemia.
Most likely diagnosis?
Multiple myeloma
Haemophilia A is inherited in a X linked recessive pattern. In this case, the Father has the disease and the mother is a carrier.
What is the chance of their daughter also having the disease?
50%
X* X
X* XX X*X
Y X*Y XY
48M. Alcoholic.
What type of anaemia would be seen on FBC?
Chronic alcoholism anaemia causes Macrocytic anaemia
68F. Lower back pain, numbness and weakness in fingers.
Weight loss (unintentional), hypercalcaemia, anaemia.
What is the most likely diagnosis and which gene is associated with it?
Multiple Myeloma.
MGUS
You suspect a haematological disorder, so perform a blood film. It shows blast cells with Auer rods.
What is your diagnosis?
AML
What protein is deficient in Haemophilia A?
Factor VIII
5month old baby, south-east Asian origin.
Weak, swollen abdo, dark urine. Small size, facial deformities.
Blood smear: microcytic, hypochromic anaemia, with target cells.
Low Hb, high iron.
Most likely diagnosis and the result of Hb electrophoresis that would confirm it?
Thallasemia
Decreased HbA, increased HbA2, present HbF
List 4 causes of microcytic anaemia
- iron deficiency
- β thalassaemia
- anaemia of chronic disease
- lead poisoning
List 4 causes of macrocytic anaemia
- B12 deficiency
- folate deficiency
- alcohol access
- myelodysplastic neoplasm
- hypothyroidism
- pregnancy
- methotrexate
- reticulocytosis
List 4 causes of normocytic anaemia
- anaemia of chronic disease
- CKD
- anaemia of traumatic blood loss
- combined (iron and B12 deficiencies for example)
- inflammatory disease
Describe the mechanism of absorption of vitamins B12
B12 binds to intrinsic factor, which is produced by parietal cells in the stomach. It is then actively absorbed in the terminal ileum
List 3 causes of B12 deficiency. Which is most common?
Most common = pernicious anaemia
- vegan / poor diet
- disorder of the terminal ileum e.g. Crohn’s, ileocaecal resection
What is the treatment of B12 deficiency anaemia ?
- B12 replacement
- IM hydroxocobalamin
What is the management for hereditary spherocytosis?
Splenectomy
What finding on blood film would confirm a diagnosis of multiple myeloma?
Rouleaux formation
The most severe form of the disease malaria with the highest rate of mortality in humans is caused by which species of mosquito?
Plasmodium falciparum
List 3 protective factors for malaria
- sickle cell trait
- G6PD deficiency
- HLA-B53
What does complicated malaria entail?
Vascular occlusion
Can cause raised ICP, seizure, coma
Ann Arbor Classification:
Describe class Ia
One nodal area, no systemic symptoms
Ann Arbor Classification:
Describe class IIa
Two or more nodal areas on the same side of the diaphragm
No systemic symptoms
Ann Arbor Classification:
Describe class IIb
Two or more nodal areas on the same side of the diaphragm
Systemic symtoms
Ann Arbor Classification:
Describe class IIIa
Nodal areas on both sides of the diaphragm
No systemic symptoms
Ann Arbor Classification:
Describe class IIIb
Nodes on both sides of the diaphragm
Systemic symptoms
Describe the Pathophysiology of Hereditary Spherocytosis
- autosomal dominant defect of the red blood cell cytoskeleton
- increased permeability to Na+ (therefore more water drawn in)
- normal biconcave disc shape replaced by sphere shape
- unable to pass through spleen without being destroyed
How is hereditary spherocytosis diagnosed?
Mostly family history and clinical picture.
BLood film will show spherocytes
Describe the Pathophysiology of thrombotic thrombocytopenic purpura
ADAMTS13 deficiency causes Von Willebrand’s factor to form thromboses
The body breaks these down, causing haemolytic anaemia and raised bilirubin
Describe the pathology and give two causes of relative polycythaemia
Fluid loss causing highly concentrated blood
- dehydration
- stress
Describe the pathology of secondary polycythaemia and give two examples of causes
Chronic hypoxia stimulated erythropoietin production in the kidney
- high altitude
- COPD
Describe the pathology of polycythaemia rubra Vera
Primary polycythaemia
JAK2 mutation -> bone marrow stem cell proliferation -> overproduction of RBCs, neutrophils, platelets -> increased clotting risk
What is Virchow’s triad?
Risk of DVT / PE
- stasis of blood flow
- hypercoagubility
- endothelial injury
What is the difference between ITP in children and adults?
- children = acute (primary)
- adults = chronic (secondary)
Name 3 signs / symtoms of immune thrombocytopenia
- easy bruising
- epistaxis
- menorrhagia
- purpura
- gum bleeding
How is ITP diagnosed?
FBC: isolated thrombocytopenia
What is the first line management of ITP?
Corticosteroids (Prednisolone)
IV IgG
Which causative organisms of malaria can cause relapses?
Plasmodium vivas
Plasmodium ovale
What signs would you expect to see in a patient when diagnosing malaria?
- fever, often >39
- sweats / chills
- headache
- myalgia
- fatigue
- diarrhoea
- vomiting
- abdominal discomfort
Name 3 signs you might see on examination of a patients’ face, skin, and nails that are associated with iron deficiency anaemia
- brittle nails
- koilonychia
- subconjuctival pallor
- pallor
- atrophic glossitis
- angular stomatitis
List the diagnostic criteria of multiple myeloma
- osteolytic lesions on imagine
- elevated plasma cells in bone marrow
- monoclonal protein in serum or urine
Which chromosomal abnormalities are assisted with multiple myeloma?
T(11;14)
50M presenting with recurrent infections, weight loss, hepatosplenomegaly, gum hypertrophy. Most likely diagnosis?
Acute Myeloid Leukaemia
What would be expected on bone marrow biopsy in AML?
Auer rods
What 2 things are associated with AML?
Down syndrome
Radiation
What 3 treatments are commonly used in AML?
- blood transfusion
- chemotherapy
- bone marrow transplant
- steroids
- IV antibiotics
- Allopurinol (to prevent tumour lysis)
Pt with CLL. What age do you expect them to be?
Over 70
What is expected on clinical examination of someone with CLL?
- anorexia
- non-tender lymphadenopathy
What treatments are commonly used in CLL?
- Chemotherapy,
- Rituximab (monoclonal antibody)
- Ibrutinib (bruton kinase inhibitor)
What is a complication of CLL that you should be aware of?
Richter’s transformation
(Progression to aggressive leukaemia)
Alcohol induced painful lymph nodes?
Hodgkin’s lymphoma
What investigation are done to diagnose Hodgkin’s lymphoma and what are the results?
FBC: normocytic anaemia
CXR: wide mediastinum
Blood film: Reed sternberg cells
What is the treatment plan for Hodgkin’s lymphoma?
Chemotherapy ABVD treatment
Bone marrow transplant
What would be seen on blood film in G6PD deficiency?
Heinz bodies
Bite cells
Reticulocytes
What antibiotic is contraindicated in G6PD deficiency?
Nitrofurantoin
What are the 6Ps ?
Pain
Pallor
Perishingly cold
Pulselessness
Paralysis
Paraesthesia
What is the scoring system used in DVT diagnosis?
Well’s score
List the factors of the Well’s score
Clinical signs / symptoms of DVT or PE
No alternative diagnosis
Heart rate >100bpm
Immobilisation for at least 3 days
Past history of DVT or PE
Haemoptosis
Malignancy with active treatment in the last 6 months or palliative management
What is the first line investigation of DVT?
D-dimer
Explain the Pathophysiology of disseminated intravascular coagulation
Simultaneous coagulation and haemorrhage caused by the initial formation of thrombi containing clotting factors and platelets, causing more bleeding
List 3 features of DIC
- clinically bleeding
- bruising
- ischaemia
- organ failure
List 3 causes of DIC
- infection
- malignancy
- trauma - burns, shock, surgery
- liver disease
- obstetric complications
What would the blood tests in DIC show?
Increased bleeding time
Low platelets
Low fibrinogen
Increased fibrin degradation products
Haemophilia A: genetic inheritance and deficiency
X linked recessive
Factor VIII
Haemophilia B: genetic inheritance and deficiency
X linked recessive
Factor IX
Haemophilia C: genetic inheritance and deficiency
Autosomal recessive
Factor XI
define bleeding time
Assessment of platelet function
Superficial puncture would, measure time taken for bleeding to stop (bleeding site turns glassy)
Define d-dimer
D-dimer is the degradation product of crosslinked (by factor XIII) fibrin. It reflects ongoing activation of the hemostatic system.
What plasma protein transports iron in the blood to the bone marrow?
Transferrin
What is ferritin?
Storage molecule of iron
Give 2 features of microcytic anaemia that would be seen on blood film?
- small red blood cells
- pale red blood cells (hypochromic)
- variation in RBC shape
Name 2 blood tests that would be carried out to diagnose microcytic anaemia
- serum ferritin
- serum iron
- reticulocyte count
What’s the pharmacological treatment of iron deficiency anaemia ?
Oral iron e.g. ferrous sulphate
Give 2 SEs of ferrous sulphate
- nausea
- abdominal discomfort
- black stools
What cells would you expect to find on microscopy of a Hodgkin’s lymphoma?
Reed stern berg cells
What lymphocyte is most likely affected in non-Hodgkin’s lymphoma?
B-lymphocyte
What virus is strongly associated with non-Hodgkin’s lymphoma?
Epstein Barr virus
What are the B symptoms?
Fever, weight loss, night sweats
Define pancytopenia
Deficiency of all blood types - red blood cells, white blood cells, platelets
Which form of viral hepatitis is a notifiable disease and to whom should it be reported?
Hepatitis A.
Consultant in Communicable Disease Control OR Public Health England OR local health protection team
Why is Hepatitis D only able to cause disease in those with Hepatitis B?
Incomplete RNA virus - needs HepB to be able to assemble
Name 3 management protocol for acute Hepatitis B
- avoid alcohol
- vaccinate contacts
- monitor liver function
What type of virus is HIV?
Retrovirus subgroup lentivirus
What CD4 count is the defining level for an AIDS diagnosis?
<200/ul
What is the overall name for treatment given to HIV patients and what sub-groups of medication are given – write in full (4 marks)
HAART (highly active antiretroviral therapy) – NRTI (nucleoside reverse transcriptase inhibitors) OR NNRTI (non-nucleoside reverse transcriptase inhibitors)
Nail bed flattening - what is it called? What is it a sign of?
Koilonychia
Iron deficiency anaemia
In iron deficiency anaemia, what 3 changes will be seen in plasma iron studies other than decreased MCV?
Decreased iron
Decreased ferritin
Increased total iron binding capacity
What is the most common type of myeloma?
IgG
What is the second most common type of myeloma?
IgA
What pathological feature of myeloma could cause backache backache?
Osteopathic bone lesions
What 3 features would you expect to see on FBC in myeloma?
Anaemia
Neutropenia
Thrombocytopenia
XR features of myeloma?
- lyric lesions
- punched out lesions
- pepper pot skull
- fractures
- vertebral collapse
- osteoporosis
COmplications of myeloma?
- hypercalcaemia
- spinal cord compression
- hyperviscosity
- AKI
- amyloidosis
- recurrent infections
Sickle cell disease causes what kind of anaemia?
Haemolytic anaemia
What is included in Warfarin reversal treatment?
- IV prothrombin complex concentrate
AND - IV vitamin K
Px: sepsis, DIC, low fibrinogen
Treatment?
Cryoprecipitate
What is cryoprecipitate?
Derivative of fresh frozen plasma
More concentrated clotting factors
Describe the anaemia caused by T1DM
- pernicious anaemia -> B12 deficiency anaemia
- oval macrocytes and hypersegmented neutrophils
What cell is involved in myeloma?
Plasma cell
What is the platelet count in ITP?
Low
If fibrin degradation products are raised, what does this indicate?
Disseminated Intravascular Coagulation
D-dimer - what do?
Assesses the degradation products of cross linked fibrin
Antiphospholipid lipid syndrome antibodies
Lupus anticoagulant
Anti cardiolipin
Anti beta 2 GBI
Antiphospholipid syndrome gene association?
HLA DR7
SLE gene associations?
HLA B8
HLA DR2
HLA DR3
Intrinsic factor antibodies indicates which anaemia?
Pernicious anaemia -> B12 anaemia
Smudge cells on blood film indicate what ?
CLL
What is the inheritance pattern of β thalassaemia?
Autosomal recessive
What factor is affected in each type of haemophilia?
A = VIII
B = IX
C = XI
On blood tests, how can haemophilia C be differentiated from the others?
Partial thromboplastin time is raised in A and B but not in C
What are the electrolyte imbalanced seen in tumour lysis syndrome?
- hypocalcaemia
- hyperphosphatemia
- Hyperuricaemia
- hyperkalaemia
What is the standard management of ITP?
Watch and wait as most cases are self limiting - supportive care at home
If there is major bleeding in ITP, what are the management options?
- IV Prednisolone
- IV Ig
- platelet transfusion
What is Ann Arbor staging for?
Hodgkin’s lymphoma
Briefly describe what a lymphoma is
A malignant tumour causing proliferation of lymphocytes mainly in lymph nodes
Other than lymph nodes, give 4 sites that Hodgkin’s lymphoma affects
- bone marrow
- spleen
- liver
- blood
Symptoms of Hodgkin’s lymphoma:
Enlarged lymph nodes
General B symptoms i.e weight loss, night sweats, malaise, fatigue
Hepato/ splenomegaly
Easy bruising
Anaemia
Frequent infections
Enlarged abdomen
Give two signs that are specific to iron deficiency anaemia
Angular stomatitis and koilonychia
Where in the intestine is B12 absorbed? What bind to B12 in the stomach?
Terminal ileum
Intrinsic factor
What causes B12 deficiency in pernicious anaemia?
Atrophic gastritis
Neurological signs of B12 deficiency anaemia?
- irritability
- depression
- psychosis
- dementia
- paraesthesia
- peripheral neuropathy