Pathology - Anaemias : Diagnosis and Classification Flashcards
which of these is the most common cause of lack of oxygen to the tissues?
a.issues with haem synthesis
b.haemoglobinopathy
c.reduced po2
d.changes to O2 affinity
a.issues with haem synthesis
what is anaemia?
condition in which the number of red blood cells or their oxygen carrying is insufficient to meet physiologic needs
normal haemoglobin levels in a woman?
a.120-155 g/l
b.130-165 g/l
c. 115-155g/l
a.120-155 g/l
normal haemoglobin levels in a man?
a.120-155 g/l
b.130-165 g/l
c. 115-155g/l
b.130-165 g/l
normal haemoglobin levels in a newborn?
a.120-155 g/l
b.130-165 g/l
c. 115-155g/l
d.149-237g/l
d.149-237 g/l
normal haemoglobin levels in a child up to 12 yrs?
a.120-155 g/l
b.130-165 g/l
c. 115-155g/l
d.149-237 g/l
e.115-155 g/l
e.115-155 g/l
which of these is not a physical adaptation to anaemia?
a.producing more rbc
b. changing dynamic properties of o2 dissociation
c.increase volumes of inspired o2
d.increased cardiac output
e.increased respiratory rate
e.increased respiratory rate
along with the elderly and very young who is most susceptible to anaemia?
a.those with lung/heart disease
b.obese people
c.people who smoke
d. people with hypertension
a.those with lung/heart disease
increased respiratory rate, confusion, pallor, increased heart rate, feeling short of breath, light headed and which other symptom is typical of anaemia?
a.paroxysmal nocturnal dypsnoea
b.orthopnoea
c. palpatations and chest pain
d. finger clubbing
e.nail pittting
c. palpatations and chest pain
what are the 3 broad causes of anaemia?
failure of production
destruction of red cells
loss of red cells
which of these factors does not influence production of sufficient numbers of functional red cells?
a.haem synthesis
b. haemolysis
c.synthesis of globin chains
d.effective erythropoesis
e.functional bone marrow
b. haemolysis
a complex metabolic pathway resulting in the incorporation of which ion results in the formation of haem?
a.Fe3+
b.Fe+
c.Fe2+
d.Fe
c.Fe2+
dietary insufficiency and what else can cause reduced absorbption of iron?
a.lyme disease
b.coeliac disease
c. reduced Fe ccontaining enzymes
d.liver failure
b.coeliac disease
where is iron absorbed?
a.across the GI epithelial cells
b.across the respiratory epithelial cells
c. across the distal convuluted tubule
d.across the loop of Henle
a.across the GI epithelial cells
What is the effect of free intracellular iron?
a.increases erythropoesis
b. decreases erythropoesis
c. toxic to cells
d.causes cell division
c.toxic to cells
true or false most iron is found as non haem iron
false
which protein is responsible for packaging iron?
a.transferrin
b.ferritin
c.globulin
d.albumin
e.fibrinogen
b.ferritin
levels of which protein correspond to iron stores?
a.transferrin
b.ferritin
c.globulin
d.albumin
e.fibrinogen
b.ferritin
What can cause ferritin levels to rise despite iron defficiency being present?
a.infection, inflammation, liver disease
b.vomiting
c.acute bledding
d.increased intracellular iron
a.infection, inflammation, liver disease
Transferrin levels are… with iron defficiency?
a.increased
b.decreased
c.the same
a.increased
ferritin levels are …. in defficiency?
a.increased
b.decreased
c.unchanged
b.decreased
which test for iron has significant variation throughout the day and with acute illness?
a.ferritin
b.transferrin
c.transferrin saturation index
d.serum iron
d.serum iron
what ratio does transferrin saturation index measure?
a.serum iron/TIBC
b. TIBC/serum iron
c.Ferritin/transferrin
d.transferrin/ferritin
a.serum iron/TIBC
What happens to the transferrin saturation index in iron defficiency anaemia?
a.increase
b.unchanged
c.decrease
c.decrease
what is the appearance of the red blood cells in iron defficiency anaemia?
a, hyperchromic, macrocytic
b.hypochromic, microcytic
c.normoctic, normochromic
b.hypochromic, microcytic
At which point in the successful delivery of oxygen does iron defficiency anaemia pathophysiology occur?
a.synthesus of haem
b.synthesis of globin chains
c.synthesis of red blood cells
a.synthesus of haem
what two systems should be considered when investigating the cuase of anaemia ?
a.gynae and resp
b.gI and cardiovascular
c.GI and gynae
d.cardiovascualr and resp
c.GI and gynae
Which of these does not cause iron defficiency?
a.chronic blood loss
b.malabsorption - coeliac disease
c. dietary insufficiency
d.thalassemia
d.thalassemia
alpha and beta thalassaemia are examples of which type of haemoglobinopathies based in the synthesis of globin?
a.qualitative
b.quantitative
b.quantitative
reduced production of functioning globin chains
sickle cell disease is an example of which type of haemoglobinopathy?
a.qualitative
b.quantitative
a.qualitative
change in Hb structure or function
What is the effect of B0 type mutations?
a.completely inhibit the synthesis of a globin
b. partly inhibit the synthesis of a globin
c.completely inhibit the synthesis of b globin
d.partly inhibit the synthesis of b globin
c.completely inhibit the synthesis of b globin
What is the effect of B+ type mutations?
a.completely inhibit the synthesis of a globin
b. partly inhibit the synthesis of a globin
c.completely inhibit the synthesis of b globin
d.partly inhibit the synthesis of b globin
d.partly inhibit the synthesis of b globin
How does B thalassaemia lead to anaemia?
a.haem cannot be made so lack of haemoglobin available to carry o2
b.failure of B globin production means there is an imbalance between a and b chains, a chains are unstable and form intracellular inclusions which interefere with the cell membrane, this causes intermedullary destruction of red cell precursors and a shortened life span of red cells
b.failure of B globin production means there is an imbalance between a and b chains, a chains are unstable and form intracellular inclusions which interefere with the cell membrane, this causes intermedullary destruction of red cell precursors and a shortened life span of red cells
at which point in sufficient oxygen delivery does beta thallasemia acts to cause anaemia?
a.circulation
b.production of haem
c.production of globin
c.production of globin
which chain is highly unstable when free and can form intracellular inclusions which interfere with the cell membrane causing intermedullary destruction of red cell precursors
a. a globin chains
b. b globin chains
c.haem
a.a globin chains
which of these is the correct genotypes for beta thalassemia major ?
a.B0 B0 / B+B0
b.B+ B0 / B+ B+
c.B0 B / B+ B
a.B0 B0 / B+B0
which of these is the correct genotypes for beta thalassemia intermedia ?
a.B0 B0 / B+B0
b.B+ B0 / B+ B+
c.B0 B / B+ B
b.B+ B0 / B+ B+
which of these is the correct genotypes for beta thalassemia minor ?
a.B0 B0 / B+B0
b.B+ B0 / B+ B+
c.B0 B / B+ B
c.B0 B / B+ B
A patient with anaemia undergoes a genetic test to investigate the cause. the results show the genotype B0 B / B+ B what type of thalassemia does this represent ?
a.beta thalassemia minor
b.beta thalassemia intermedia
c. beta thalassemia major
a.beta thalassemia minor
A patient with anaemia undergoes a genetic test to investigate the cause. the results show the genotype B0 B+ / B+ B+ what type of thalassemia does this represent ?
a.beta thalassemia minor
b.beta thalassemia intermedia
c. beta thalassemia major
b.beta thalassemia intermedia
A patient with anaemia undergoes a genetic test to investigate the cause. the results show the genotype B0 B+0 / B+ B0 what type of thalassemia does this represent ?
a.beta thalassemia minor
b.beta thalassemia intermedia
c. beta thalassemia major
c. beta thalassemia major
Which thalassaemia renders a patient transfusion dependent?
a.beta thalassemia minor
b.beta thalassemia intermedia
c. beta thalassemia major
c. beta thalassemia major
Which thalassaemia renders a patient transfusion dependent later in life only ?
a.beta thalassemia minor
b.beta thalassemia intermedia
c. beta thalassemia major
b.beta thalassemia intermedia
When does beta thalassaemia major onset?
a.1 year
b.2 years
c.3 months
d.6 months
d.6 months
as Hbf levels drop
severe profound anaemia, hepatosplenomegaly, skeletal abnormalities,iron overload symptoms secondary to transfusion and high output heart failure are associated with beta thalassemia?
a.beta thalassemia minor
b.beta thalassemia intermedia
c. beta thalassemia major
c. beta thalassemia major
mild anaemia with marked microcytosis which may be mistaken for Fe defficiency are associated with beta thalassemia?
a.beta thalassemia minor
b.beta thalassemia intermedia
c. beta thalassemia major
a.beta thalassemia minor
what do a0 type mutations do?
a.completely inhibit synthesis of the ⍺globin
b.partially inhibit synthesis of the ⍺globin
a. a0 type mutations completely inhibit synthesis of the ⍺globin
what do a+ type mutations do?
a.completely inhibit synthesis of the ⍺globin
b.partially inhibit synthesis of the ⍺globin
b.partially inhibit synthesis of the ⍺globin
the genotype a0 a results in which condition?
a. Hb Barts
b. microcytic hypochromic
c.carrier
d.Hb H
b. microcytic hypochromic anaemia usually mild
patient has b. microcytic hypochromic anaemia usually mild which a thalassemia genotype is most likely?
a.ao a
b. a0 a0
c. a+ a
d. Hb H
a.ao a
patient has Hb Barts which a thalassemia genotype is most likely?
a.ao a
b. a0 a0
c. a+ a
d. Hb H
b. a0 a0 incompatible with post uterine life
patient is unaffected but is a carrier for a thallassaemia which a thalassemia genotype is most likely?
a.ao a
b. a0 a0
c. a+ a
d. Hb H
c. a+ a
patient has thalassemia intermedia phenotype which a thalassemia genotype is most likely?
a.ao a
b. a0 a0
c. a+ a
d. Hb H
d. Hb H
which chromosome does the sickle cell mutation occur on?
a.6
b.10
c.11
d.7
c.11
which gene does the sickle cell mutation occur?
a.6
b.5
c.7
d.8
a.6
Which two bases swap places in sickle cell disease?
a.C and G
b.A and T
c,G and T
d. A and C
b.A and T
Which chromosome is the gene for alpha chains found on?
a.11
b.6
c.3
d.14
b.6
Patient has genotype HbSS what does this indicate?
a.sickle cell trait
b.sickle cell disease
c.sickle cell anaemia
b.sickle cell disease
Patient has genotype HbAS what does this indicate?
a.sickle cell trait
b.sickle cell disease
c.sickle cell anaemia
a.sickle cell trait
What is the phenotype of the genotype HbAS?
a.anaemic
b.unaffected
c.sickle cell disease
b.unaffected
What is sickle cell trait against?
a.Strep pneumonae
b. staph aureus
c. p. falciparum
d. anaemia
c. p. falciparum
infection, hypoxia, dehydration and what else can trigger the polymerisation of HbS to rope like fibres and cause sickling?
a.alkalosis
b.acidosis
b.acidosis
Other than cells adhering to the endothelium of the microvasculature how else does sickle cell lead to vaso occlusion?
a.release of free iron and intravascular NO depletion
a.release of free iron and intravascular NO increase
a.release of free haem and intravascular NO depletion
a.release of free globin and intravascular NO depletion
a.release of free haem and intravascular NO depletion
What type of anaemia is caused by the shortened red cel lifespan in sickle cell disease?
a.haemolytic
b.iron defficient
a.haemolytic
Painful Crisis
Acute Chest Syndrome
Priapism
Stroke
Acute Anaemia
Aplastic Crisis
Multi-organ Failure
Acute Cholecystitis
are acute complications of what condition?
a.small vessel obstruction in sickle cell disease
b. beta thalassaemia major
c.Barts Hb disease
a.small vessel obstruction in sickle cell disease
Chronic Complications
Nephropathy
Chronic Pain
Pulmonary Hypertension
Retinopathy
Neurological impairment
Hyposplenism – Infection and Immunodeficiency
are chronic complications in which condition?
a.small vessel obstruction in sickle cell disease
b. beta thalassaemia major
c.Barts Hb disease
a.small vessel obstruction in sickle cell disease
where are the numbers of reticulocytes high?
a.bone marrow
b.peripheral blood
a.bone marrow
low number of reticulovytes indicates what?
a.low level of erythropoesis
b.high level of erythropoesis
a. low level of erythropoesis
high number of reticulovytes indicates what?
a.low level of erythropoesis
b.high level of erythropoesis
b.high level of erythropoesis
what does number of reticulocytes represent?
a.haemolysis
b. bledding
c. erythropoesis
d.haemoglobin production
c. erythropoesis
blood film shows rbc with polychromasia what does this indicate?
a.iron defficiency anaemia
b.B12/folate defficiency anaemia
c.high transferrin
d.high retiulocytes
d.high retiulocytes
due to retained ribosomal rna
Folate and b12 HAVE A KEY ROLE in the formation of..
a.guanine
b.pyrimidines
c.purines
d.purines and pyrimidines
d.purines and pyrimidines
true or false humans cannot synthesise B12 or folate so rely on dietary intake?
true
what substance is produced by the gastric parietal cells and is critial to B12 absorption?
a. intrinsic factor
b. extrinsic factor
c.epithelial factor
d.endothelial factor
a. intrinsic factor
where does B12 absorption occur?
a.spleen
b.distal convuluted tubule
c. proximal convuluted tubuke
d.distal small intestine
e.distal large intestine
d.distal small intestine
increased cardiac output, increased resp rate, optimisation of Hb o2 binding and what else happens when there is an increase o2 demand?
a.increased Hb from increased circulating Hb
b. increased WBC
c.increased haemolysis
a.increased Hb from increased circulating Hb
in hypoxic conditions what happens to HIF1a?
a.breaks down
b.released
c.stabilised and binds to hypoxia response element
d. destabilised and binds to hypoxia response element
c.stabilised and binds to hypoxia response element
where does stabilised HIF1a bind?
a.6th gene on 11th chromonsome
b. 3’ element of the EPO gene
c.6th chromosome
b. 3’ element of the EPO gene
What does binding of stabilised HIF1a at the 3’ element of the EPO gene cause?
a.decreased EPO gene translation and transcription
a.increased EPO gene translation and transcription
a.increased EPO gene translation and transcription
where is EPO produced?
a.spleen
b.bone marrow
c.gastric parietal cells
d.interstitial cells of kideny
d.interstitial cells of kideny
What would you expect from a mutation causing constitutive
activation of HIF?
This would stimulate EPO production by binding to the hypoxia response
element of the gene. Increased EPO production would cause increased red
blood cell production Polycythaemia
What would you expect to happen to erythropoietin production and
red blood cell production in chronic kidney disease?
A Failing kidney will fail to produce sufficient EPO. Therefore erythropoiesis is
suppressed and this results in anaemia. Often patients require EPO injections to
treat anaemia in CKD
How does inflammation /malignancy lead to failed RBC production?
a.decreased Hb production
b.increased haemolysis
c.relative decrease in EPO so erythropoesis and increased hepcidin altering iron homeostasis
c.relative decrease in EPO so erythropoesis and increased hepcidin altering iron homeostasis
relative decrease in EPO so erythropoesis and increased hepcidin altering iron homeostasis resulting in failed rbc production is caused by…
a. a thalassaemia
b. b thalassaemia
c. iron defficiency
d.malignancy/inflammation
d.malignancy/inflammation
the failure of erythropoiesis occurring in isolation from the
rest of haematopoiesis. It is marked by severe reticulocytopenia
describes what condition?
a. a thalassaemia
b. b thalassaemia
c. iron defficiency
d.malignancy/inflammation
e.red cell aplasia
e.red cell aplasia
red cell aplasia leads to?
a.haemolysis
b.reticulocytopenia
c.increased RBCs
d. decreased RBCs
b.reticulocytopenia
Diamond blackfan anaemia is caused by red cell aplasia. how is it acquired?
a.congenital
b.acquired
a.congenital
what type of anaemia is caused by a gene mutation affecting ribosome function that results in a differentiation blockin the eary stages of red cell development?
a.iron
b.haemolytic
c.diamond blackfan
c.diamond blackfan
diamond blackfan anemia is a congentital anaemia caused by a failure of erythropoesis. what dos the genetic mutation effect?
a.haem production
b.globin production
c.ribosome function
c.ribosome function
infection with what can cause a transient block in erythropoesis?
a.staph aureus
b.strep pneum
c. e coli
b. parovirus
b19
d.covid 19
b. parovirus
b19
Who is at most significant risk of complications following aquired red cell aplasia?
a.patients with sickle cell, haemolytic anaemia
b.patients with hypertension
c.obese patients
a.patients with sickle cell, haemolytic anaemia
little red cell reserve and high demand for production of cells so stand still v dangerous
Drugs – eg previous cases of antibodies to recombinant EPO injections have
been implicated
• Autoimmunity – eg SLE, RA etc
• Malignancy – lymphomproliferative malignancy, other solid tumours
can all cause what ?
a.iron defficiency
b.haemolytic anaemia
c.red cell aplasia
c.rd cell aplasia
at which stage of production does red cell aplasia have its affect?
a.failure to produce haem
b.failure to produce chains
c.failure of erythropoesis
d.non functioning bone marrow
c.failure of erythropoesis
Haematemesis
• Malaena / PR bleeding
• Raised Urea
are examples of what type of bleeding?
a.acute
b.GI
c.gynae
b. GI
Heavy
Menstruation
• Post Menopausal
bleeding
are examples of what type of bleeding?
a.acute
b.GI
c.gynae
c.gynae
what does haemolytic anaemia refer to?
describe any
process in which there is increased
breakdown or destruction of mature red
blood cells resulting in a shortened life
span and need for increased
erythropoiesis to compensate.
when does haemolytic anaemia become clinically apparent?
a. when production> breakdown
b. when Breakdown > Production
b. when Breakdown > Production
true or false haemolysis can be both intravascular and extravascular
true
• Anaemia (can be mild severe)
• Raised Bilirubin
• Raised LDH
• Decreased Haptoglobin
• Increased Reticulocytes
• Spherocytes, Schistocytes (fragments)
• Positive Coombes Test
indicate which type of anaemia`?
a.diamond blackfan
b.haemolytic
c. iron defficiency
b.haemolytic
where in the body is unconjugated billirubin converted to conjugated billirubin by UDP glucuronosyltransferase ?
a.kidney
b.liver
c.spleen
d.bone marrow
b.liver
what enzyme is responsible for conversion of unconjugated billirubin to conjugated billirubin?
a.heme oxygenase
b.biverdin reductase
c.UDP glucoronosyltransferase
c.UDP glucoronosyltransferase
what enzyme is responsible for release of iron for recycling?
a.heme oxygenase
b.biverdin reductase
c.UDP glucoronosyltransferase
a.heme oxygenase
what enzyme is responsible for conversion of bilverdin to bilirubin?
a.heme oxygenase
b.bilverdin reductase
c.UDP glucoronosyltransferase
b.bilverdin reductase
how is conjugated bilirubin excreted?
a.urine
b.sweat
c.bile
c.bile
over production of billirubin and and failure to conjugate bilirubin leads to?
a.hypobilirubinaemia
b.hyperbillirubinaemia
b.hyperbillirubinaemia
Wjat does enhanced haemolysis lead to?
a.overproduction of billirubin
b.failure to conjugate billirubin
a.overproduction of billirubin
What effect do Gilberts syndrome, Crigler-Najar syndrome and liver failure have on billirubin?
a.overproduction of billirubin
c.failure to conjugate billirubin
d.increased conjugation of billirubin
e.under production of billirubin
c.failure to conjugate billirubin
what condition i described as a benign condition, characterised by isolated high bilirubin and often precipitated by infection or trauma?
a.Crigler Najar syndrome
b.liver failure
c. Hb H
d.Gilberts syndrome
e.Marfans syndrome
d.Gilberts syndrome
which of these factors does not precipitate Gilberts syndrome?
a. trauma
b.infection
c.vomiting
c.vomiting
low haptoglobin levels are present in which type of haemolysis?
a.intravascular
b.acute
c.chronic
d.extra vascular
a.intravascular
what does Hb combine with intravascurlarly prior to breakdown?
a.heme oxygenase
b.bilverdin reductase
c.UDP glucoronosyltransferase
d.haptoglobin
d.haptoglobin
What cytoplasmic enzyme is a good marker of cell turnover and is released when red cells are broken down?
a.heme oxygenase
b.bilverdin reductase
c.UDP glucoronosyltransferase
d.Lactate dehydrogenase
d.Lactate dehydrogenase
lactate dehydrogenase is… in haemolytic anaemia?
a.low
b.high
b.high
which of these does not cause raised LDH?
a.haemolytic anaemia
b.iron defficiency anaemia
c.malignancy (high grade lymphomas)
d. Tissue damage eg MI/liver failure
b.iron defficiency anaemia
what is coombes reganet made up of?
a.Antibodies to RBC antigens
b.antihuman antibodies
b.antihuman antibodies
what is a positive coombes result?
a.clear serum
b.cloudy serum
c.red agglutination
c.red agglutination
what does a positive coombes result indicate?
a.iron defficiency anaemia
c.haemolytic anaemia
d. immune mediated haemolytic anaemia
d. immune mediated haemolytic anaemia
which of these drugs does not cause acquired haemolytic anaemia ?
a.cephalosporins
b.NSAIDS
c.penicillin
d.corticosteroids
e.nitrofurantoin/dapsone
d.corticosteroids
Infection by what can cause acquired haemolytic anaemia
a. e coli
b.malaria
c.hep B
b.malaria
defficiency of which enzyme can cause congenital haemolytic anaemia?
a.heme oxygenase
b.bilverdin reductase
c.UDP glucoronosyltransferase
d.Lactate dehydrogenase
e.G6PD
e.G6PD
blood film shows spehrocytes and scistocytes what type of anaemia most likley?
a.iron defficiency anaemia
c.haemolytic anaemia
d. immune mediated haemolytic anaemia
d. immune mediated haemolytic anaemia
B12 and/or Folate deficiency
• Alcohol,
• Drugs (HU, EPO, Chemotherapy)
• Haemolysis
• Hypothyroidism
• Bone Marrow Infiltration
• Pregnancy
cause what size rbc?
a.microcytic
b.macrocytic
c.normocytic
b.macrocytic
• Iron Deficiency
• Thalassemia
cause what appearance of rbc?
a.microcytic
b.macrocytic
c.normocytic
a.microcytic
Acute Bleeding
• Anaemia Chronic Disease
• Mixed Aetiology
cause what appearance of rbc?
a.microcytic
b.macrocytic
c.normocytic
c.normocytic
