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Anaemia Flashcards

1
Q

What is anaemia?

A

A condition where the oxygen carrying capacity of the blood is decreased.
Usually by a decrease in the number of red blood cells or in the amount of haemoglobin in the blood.
Most common blood disorder.

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2
Q

What are the consequences of anaemia?

A

Pale skin.

Also fatigue and intolerance to cold, caused by insufficient oxygen for ATP and heat production.

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3
Q

What causes iron deficiency (microcytic, hypochromic) anaemia?

A

Inadequate absorption of iron (e.g not enough gastric acid which is needed to convert iron to Fe2+ state for absorption, not enough vitamin C).
Excessive loss of iron (e.g lost in menstrual blood, gastrointestinal losses due to malignancy or ulceration).
Increased demand for iron (e.g increased iron demand of growing foetus).
Insufficient iron intake in diet.

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4
Q

What causes megaloblastic anaemia?

A

Insufficient intake of vitamin B12 and folic acid causes red bone marrow to produce large, abnormal red blood cells called megaloblasts.

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5
Q

What causes pernicious anaemia?

A

Parietal cells in the stomach not secreting intrinsic factor, so vitamin B12 is not absorbed in the ileum, so there is insufficient haemopoeisis and a reduction in the number of red blood cells.

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6
Q

What causes haemorrhagic anaemia?

A

Excessive blood loss leading to a loss in red blood cells, e.g from large wounds, peptic ulcers, really heavy menstruation.

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7
Q

What causes haemolytic anaemia?

A

The plasma membranes of the red blood cells rupture prematurely. This causes haemoglobin to pour out into the plasma which may damage glomeruli in the kidney.

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8
Q

What causes thalassaemia?

A

Deficient synthesis of haemoglobin produces small (microcytic), pale (hypochromic), short-lived red blood cells.
Thalassaemia describes a group of hereditary haemolytic anaemias.

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9
Q

What causes aplastic anaemia?

A

Red bone marrow is destroyed by toxins, gamma radiation, or drugs that inhibit the enzymes needed for haemopoeisis.
Aplastic anaemia is deficiency of all types of blood cell caused by failure of bone marrow development.

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10
Q

How is anaemia classified based on size of the red blood cells?

A

Microcytic = small red blood cells (cells are often hypochromic too because they don’t contain a lot of haemoglobin).
Normocytic = cells are normal sized (within 2 SD of the mean).
Macrocytic - cells are abnormally large (as in megaloblastic anaemia).

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11
Q

What measure can be used to show the size of the red blood cells?

A

Mean corpuscular volume (MCV).

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12
Q

What are the common causes of microcytic anaemia?

A

A reduction in the haemoglobin content of the cell e.g from iron-deficiency, thalassaemia, anaemia of chronic disease.

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13
Q

What are the common causes of normocytic anaemia?

A

A loss in the number of red blood cells e.g from haemorrhagic anaemia (acute blood loss), haemolytic anaemia, combined deficiency (e.g iron and folic acid), endocrine disease, marrow fibrosis.

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14
Q

What are the common causes of macrocytic anaemia?

A

Megaloblastic anaemia is caused by a deficiency in vitamin B12 and folic acid which are necessary for the synthesis of DNA. Pernicious anaemia is caused by a loss of parietal cells so that intrinsic factor is not secreted and vitamin B12 not absorbed and so insufficient haemopoiesis.

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15
Q

In the negative feedback system regulating erythropoiesis, what is the controlled condition?

A

Amount of oxygen delivered to the body cells.

Insufficient oxygen in body cells = hypoxia.

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16
Q

What is the name of the hormone secreted by interstitial fibroblasts in the kidney that controls the rate of erythropoiesis?

A

Erythropoietin.

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17
Q

What does erythropoietin do?

A

In red bone marrow it binds to receptors at colony forming unit-erythrocyte stage to prevent apoptosis. It promotes differentiation and development of erythrocyte precursors, increasing the rate that proerythroblasts mature into reticulocytes, so more reticulocytes are released into the blood so the number of red blood cells in the blood will increase.

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18
Q

What’s the name of the compound that binds to haemoglobin and reduces its affinity for oxygen?

A

2,3-Bisphosphogycerate (2,3-BPG).

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19
Q

What happens to pO2 in anaemia?

A

Largely unchanged.

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20
Q

Does a change in the amount of haemoglobin affect the transport of CO2?

A

No, CO2 diffuses freely.

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21
Q

What is anisocytosis?

A

Variation in size of erythrocytes.

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22
Q

What is poikilocytosis?

A

Variation in shape of erythrocytes.

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23
Q

What is spherocytosis?

A

Caused by hereditary spherocytosis or autoimmune haemolytic anaemia. On blood film, erythrocytes have no central pallor.
Caused by defect in RBC cytoskeleton due to mutation in protein (spectrin, ankyrin, band 4.1, band 3 protein).
RBC becomes spherical, so has reduced surface area so reduced efficiency in exchanging oxygen and carbon dioxide. RBC has HIGH OSMOTIC FRAILTY, so more likely to burst.

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24
Q

What is the molecule called which iron is stored as in the liver and muscle cells?

A

Ferritin.

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25
Q

What is the molecule called which transports iron through the blood?

A

Transferrin.

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26
Q

What is another name for the reticuloendothelial system?

A

Mononuclear phagocytic system.

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27
Q

What is polycythaemia?

A

A higher concentration of red blood cells in your blood, meaning your blood is thicker and less able to travel through vessels and organs.

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28
Q

Name some symptoms of polycythaemia.

A 
Plethora (red-face).
Blurred vision.
Headaches.
Tiredness.
Itchy skin, especially after exposure to warm water. Caused by histamine released by leukocytes (whose levels may also be elevated).
Hypertension.
Epistaxis and bruising.
Abdominal pain.
Gout.
Splenomegaly.
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29
Q

Name the type of polycythaemia caused by a reduction in plasma volume, and name some causes.

A

Relative polycythaemia, caused by obesity, smoking, excessive drinking of alcohol, overuse of diuretics.

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30
Q

Name the type of polycythaemia caused by dehydration.

A

Relative polycythaemia.

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31
Q

Name the type of polycythaemia caused by a mutation in the JAK-2 gene leading to enhanced response to EPO in the progenitor cell leading to overproduction of erythrocytes and also leukocytes and platelets.

A

Primary absolute polycythaemia (polycythaemia vera).

Also caused by mutation in EPOR.

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32
Q

Name the type of polycythaemia caused by an underlying condition causing an increase in the production of erythropoietin, and name some conditions that could cause this.

A

Secondary absolute polycythaemia. COPD could cause decreased oxygen supply to the kidneys causing increased EPO secretion. Also a kidney tumour or stenosis of arteries in the kidneys could cause increased EPO.

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33
Q

Name some treatments for polycythaemia vera.

A

Aspirin - anti-platelet, thins blood.
Hydroxyurea/hydroxycarbomide - antineoplastic agent that inhibits DNA synthesis and repair so causes cell death in S phase (also increases Hb in foetus so used to avoid sickle cell crises).
Radiation treatment to suppress bone marrow (e.g inject phosphorus-32 - but carries high risk of acute myelogenous leukaemia).
Chemotherapy.
Not bone marrow transplant as condition is not fatal.
Venesection (removing a pint of blood at a time).

34
Q

What is the full name of the JAK2 gene?

A

Janus kinase 2 gene.

35
Q

What is JAK2?

A

It is a non-receptor tyrosine kinase - a protein in the cytoplasm of cells that can transfer phosphate groups from a nucleotide (e.g ATP) to a tyrosine residue on a protein.

36
Q

What is the function of JAK2 in haematopoiesis?

A

JAK2 is required for signal transduction from the erythropoietin and thrombopoietin receptors on haematopoietic cells.

37
Q

What can a mutation in the JAK2 gene lead to?

A

A mutation in the autoinhibitory domain can lead to JAK2 being constitutively activated (constantly turned on) which causes increased sensitivity of the haematopoietic cells to erythropoietin, causing polycythaemia vera. (Also causing essential thrombocythaemia if sensitivity to thrombopoietin is increased.
This can also cause primary myelofibrosis, due to the overproduction of megakaryocytic in the bone marrow which then produce collagen and form scar tissue.

38
Q

What is a leukoerythroblastic blood picture, and what conditions can lead to it?

A

Space-occupying lesions in the bone marrow cause immature cells to leak into the circulation, including red blood cells with nuclei (proerythroblasts) and myelocytes (immature neutrophils). This can result from myelofibrosis, malignancy, other infiltrative bone marrow disorders.

39
Q

What is thrombocytopenia?

A

Deficiency of platelets.

40
Q

What are haemoglobinopathies?

A

Genetic anaemias.

41
Q

What is the cause of sickle cell anaemia?

A

A change in the beta globulin chain that causes the cells to sickle in low partial pressure of oxygen, and also lyse.

42
Q

In sickle cell disease, what happens to the Hb in low partial pressure of oxygen (e.g exercise, altitude, COPD) and why?

A

The Hb is less soluble and crystalises so the cell’s sickle.

43
Q

What causes thalassaemia?

A

A reduction in the quantity of alpha and beta globulin leading to microcytic, hypochromic cells.

44
Q

What type of mutation are both thalassaemia and sickle cell anaemia?

A

Autosomal recessive.

45
Q

What are the potential consequences of sickle cell anaemia?

A

Anaemia (haemolytic).
Sickle cell crises, with severe pain and resulting in infarcts in bones, lung. spleen, brain.
Lose spleen function, leading to infections.

46
Q

Name some personal and social affects of sickle cell anaemia.

A

Impact on going to school, work, social life, family relationships and family dynamics (e.g when more attention has to be given to sick child), reduced lifespan, concerns the patient about having children, future pregnancies where termination is considered - but what does that mean for the existing child.

47
Q

Of vitamin B12 and folate, which one is given orally and which one is an injection?

A

Vitamin B12 = injection.

Folate = orally.

48
Q

Why must you give B12 supplements if you-re giving folate?

A

Vitamin B12 converts folate to its active form.

49
Q

What does the mnemonic Dude Is Just Feeling Ill, Bro. stand for?

A

Duodenum Iron. Jejunum Folate. Ileum B12.

50
Q

What cells is EPO produced by?

A

Interstitial fibroblasts of the kidney.

51
Q

Name a reason a stable blood glucose level must be maintained.

A

Red blood cells feed on glucose for aerobic glycolysis.

52
Q

Because foetal haemoglobin is of the isoform with 2 alpha and 2 gamma, it has a higher affinity for oxygen than maternal haemoglobin, and also creates a low pO2 environment in the placenta causing more of the maternal haemoglobin to dissociate. What can foetal haemoglobin be said to have?

A

A double Bohr effect.

53
Q

What is methaemoglobin, and when is it high?

A

Haemoglobin with ferric (Fe3+) instead of ferrous (Fe2+) iron, so has a really strong affinity for oxygen and pO2 must be very decreased for it to dissociate. It is high in drug toxicity.

54
Q

What is carboxyhaemoglobin?

A

Haemoglobin bound to CO instead of O2.

55
Q

Would hypersplenism lead to anaemia?

A

Yes, because there is overconsumption of red cells.

56
Q

What are the three “I”s that cause changes in production and consumption of red blood cells.

A

Infection, Inflammation, Infiltration.

57
Q

What is the medical name for coughing up blood?

A

Haemoptysis.

58
Q

What is the medical name for vomiting blood?

A

Haematemesis.

59
Q

What is the medical name for a nose bleed?

A

Epistaxis.

60
Q

What is the medical name for bleeding from lower down in the GI tract?

A

Haematochesia.

61
Q

What is the medical name for bleeding higher up in the GI tract resulting in dark stools?

A

Melena.

62
Q

What is the medical name for blood in the urine?

A

Haematouria.

63
Q

How many genes are faulty to produce alpha thalassaemia?

A

4 (on chromosome 16).

64
Q

How many genes are faulty to produce beta thlassaemia?

A

1-2.

65
Q

Which countries is thalassaemia most common in?

A

Mediterranean.

66
Q

With which anaemia would you find target cells on the blood film?

A

Thalassaemia - the haemoglobin has got clogged up in the middle of the central pallor.

67
Q

Why can iron deficiency anaemia be a sign of cancer?

A

It is commonly caused by chronic blood loss (e.g occult gastrointestinal bleeding).

68
Q

Name three blood tests that measure iron levels.

A

Ferritin, free and bound iron studies, total iron binding capacity.

69
Q

Of iron deficiency anaemia and thalassaemia, which cells appear more hypochromic on a blood film?

A

Iron deficiency anaemia.

70
Q

Why do PPIs make iron absorption difficult?

A

Gastric acid is required to convert non-haem (ferric) iron, to haem (ferrous) iron.

71
Q

Of vitamin B12 and folate deficiencies, which one is usually caused by poor diet, and which one is usually caused by autoantibodies?

A

Folate = poor diet.

Vitamin B12 = autoimmune (pernicious anaemia).

72
Q

On a blood film of megaloblastic anaemia, what sort of neutrophils would you see?

A

Multinucleated.

73
Q

What is the active form of folate called (which it is converted to by vitamin B12 - so both supplements must be taken together)?

A

Tetrahydrofolate.

74
Q

What are tetrahydrofolate and vitamin B12 needed for?

A

Producing the building blocks of DNA.

75
Q

If folate was supplemented to a patient with folate and B12 deficiency, without also supplementing B12, what would be risked and why?

A

Subacute combined degeneration of the cord, because all the existing B12 would be used up trying to convert the folate and that vitamin B12 deficiency would lead to neurological symptoms affecting the brain and peripheral nerves.

76
Q

What can cause haemolytic anaemia?

A 
Membrane defects e.g hereditory spherocytosis.
Haemoglobin defects e.g sickle cell anaemia.
Metabolic defects e.g glucose-6-phosphate dehydrogenase deficiency.
Autoimmune haemolysis (complement's membrane attack complex).
Mechanical haemolysis (like in the feet of marathon runners - athlete's anaemia).
Drug-induced.
77
Q

What are acanthocytes, and where might you see them?

A

“Bitten” red blood cells seen in a blood film for haemolytic anaemia.

78
Q

If a patient has a sore throat, purpura (haemorrhages) and fatigue, what type of anaemia is he likely to have?

A

Aplastic anaemia.
Sore throat indicates recurrent infection, haemorrhages indicate thrombocytopenia, fatigue indicated low production of erythrocytes.

79
Q

If a patient has high reticulocyte count, fluctuating jaundice, gallstones, but negative for autoantibodies, what anaemia is she likely to have?

A

Congenital spherocytosis.
The high reticulocyte count is common in anaemia, the fluctuating jaundice suggests increased erythrocyte breakdown, the fact there is no autoantibodies suggests it’s not autoimmune.

80
Q

What is idiopathic myelofibrosis?

A

Fibrotic deposition in the bone marrow which leads to a leukoerythroblastic blood picture, splenomegaly, thrombocytopenia, progression to leukaemia.

Blood (6 decks)

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