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Haematology > Anaemia > Flashcards

Anaemia Flashcards

1
Q

In which groups is anaemia most commonly seen?

A

Pregnant Women
Children <5 years
Elderly people

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2
Q

What are the symptoms of anaemia?

A 
Dyspnoea 
Fatigue
Headache
Dizziness
Syncope
Confusion
Palpitations
Angina
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3
Q

What are some of the signs of anaemia?

A 
Bounding pulse
Postural hypotension
Tachycardia
Pallor (skin and conjunctiva)
Shock
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4
Q

What is meant be the terms ‘microcytic’, ‘normocytic’ and ‘macrocytic’?

A

Microcytic - reduced cell size
Normocytic - normal cell size
Macrocytic - increased cell size

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5
Q

Give examples of microcytic anaemias

A

Iron deficiency anaemia (late stages)
Anaemia of chronic disease (though this is more commonly normocytic)
Thalassaemias and other haemoglobinopathies
Lead poisoning
Sideroblastic anaemia

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6
Q

Give examples of normocytic anaemias

A 
Anaemia of chronic disease
Blood loss
Renal failure
Cancer-associated anaemia
Pregnancy
Haemolysis (inherited, immune and non-immune)
Iron deficiency (early stages)
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7
Q

Give examples of macrocytic anaemias

A 
Folate / B12 deficiency
Alcohol abuse
Liver disease
Hypothyroidism
Haematological malignancies
Hypothyroidism
Haemolysis
Reticulocytosis
Drugs e.g. methotrexate
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8
Q

Give examples of aetiologies of anaemia which fit under the category of ‘insufficient production’

A

EPO deficiency - renal failure, chronic disease
Iron, folate, B12 deficiency
Marrow infiltration / fibrosis - leukaemia, multiple myeloma, myelofibrosis
Myelosuppression - chemo/radiotherapy

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9
Q

Give examples of aetiologies of anaemia which fit under the category of ‘ineffective production’

A

Folate / B12 deficiency
Myelodysplastic syndromes
Sideroblastic anaemia
Thalassaemia

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10
Q

Give examples of aetiologies of anaemia which fit under the category of ‘inherited haemolytic anaemia’

A

Membrane abnormalities - hereditary spherocytosis
Metabolic deficiencies - G6PD deficiency
Haemoglobin abnormalities - thalassaemia, sickle cell disease

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11
Q

Give examples of aetiologies of anaemia which fit under the category of ‘acquired haemolytic anaemia’

A

Immune - warm and cold autoimmune haemolytic anaemia

Non-immune - mechanical trauma, hypersplenism, drugs, infection

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12
Q

What is the most common type of anaemia?

A

Iron deficiency anaemia

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13
Q

What are the four main groups into which the. aetiologies of iron deficiency anaemia can be classified?

A

Decreased intake of iron
Decreased absorption of iron
Increased demand for iron
Increased iron loss

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14
Q

Decreased iron intake is the most common aetiology of iron deficiency anaemia. In what groups does this most often occur and why?

A

Infants - due to the low iron content in breast milk

Vegetarians / vegans - as they mainly consume non-ham iron which is harder to absorb

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15
Q

What conditions can cause a decreased absorption of iron leading to iron deficiency anaemia?

A

Decreased stomach acid production e.g. following gastrectomy
Inflammatory bowel disease
Coeliac disease

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16
Q

Increased iron demand is a possible cause of iron deficiency anaemia. In what groups does this most often occur and why?

A

Children and adolescents due to rapid growth and increase in blood volume
Pregnant women due to increased iron requirements for foetal development

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17
Q

What conditions can cause an increase in iron loss leading to iron deficiency anaemia?

A

Any condition in which there is chronic slow bleeding e.g.
Heavy menstruation
Bleeding gastric ulcers
Colon cancer

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18
Q

What are the specific signs and symptoms of iron deficiency that may be seen in iron deficiency anaemia?

A 
Koilonychia
Glossitis
Angular stomatitis
Papillary atrophy
Dysphagia due to an oesophageal web
Gastritis
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19
Q

Patients with iron deficiency anaemia almost always have specific signs and symptoms of iron deficiency. T/F?

A

False

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20
Q

What is the name of the syndrome in which iron deficiency causes dysphagia via the formation of an oesophageal web?

A

Plummer-Vinson syndrome

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21
Q

What results would you expect on FBC in iron deficiency anaemia?

A

Low Hb, MCV and MCHC

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22
Q

In iron deficiency anaemia there is variation in RBC size. What is the term for this?

A

Anisocytosis

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23
Q

What results would you expect in an iron study in iron deficiency anaemia?

A

Low serum iron
Low serum ferritin
Total iron binding capacity high

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24
Q

In a young women with severe menorrhagia and no other symptoms it can be. assumed that uterine bleeding is the cause of iron deficiency anaemia. T/F?

A

True

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25
Q

What patients with iron deficiency anaemia require further investigation with GI examination, DRE and colonoscopy?

A

Men
Postmenopausal women
Patients with complaints of indigestion or change in bowel habit

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26
Q

Patients with iron deficiency anaemia can be screened for coeliac disease with what simple test?

A

Anti tissue transglutaminase

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27
Q

Describe the management of iron deficiency anaemia

A

Oral iron - usually 200mg ferrous sulphate - is given to correct anaemia
If oral iron therapy fails, parenteral iron can be. given
Severe cases may require blood transfusion

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28
Q

With what beverage should oral iron supplements be taken to improve their absorption?

A

Orange juice

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29
Q

What are the potential side effects of oral iron supplements?

A

Nausea
Epigastric pain
Diarrhoea
Constipation

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30
Q

On which chromosome are the alpha globin genes situated?

A

Chromosome 16

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31
Q

On which chromosome are the beta globin genes situated?

A

Chromosome 11

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32
Q

What is the mode of inheritance for thalassaemias?

A

Autosomal recessive

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33
Q

If a person has only one defective alpha globin gene then they will be a silent carrier of alpha thalassaemia. T/F?

A

True

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34
Q

What is the name of the condition in which there are three defective alpha globin genes?

A

HbH disease (alpha thalassaemia)

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35
Q

What is the name of the condition in which there are four defective alpha globin genes?

A

Hb Bart’s Hydrops fetalis

36
Q

Describe the increasing severity of alpha thalassaemia

A

One defective gene - silent carrier
Two defective genes - mild symptoms
Three defective genes - more severe HbH disease
Four defective genes - Hb Bart’s hydros fetalis (not compatible with life)

37
Q

Describe the pathophysiology of HbH disease

A

The lack of alpha genes causes a relative excess of beta genes which then clump together within developing RBCs to form HbH molecules. These molecules result in damage to the RBC membrane causing intramedullary or extravascular haemolysis. Additionally, HbH has a very high affinity for oxygen, so it doesn’t release oxygen to tissues. This causes hypoxia which results in the enlargement of bone marrow, liver and spleen

38
Q

What characteristic of thalassaemia can be seen on blood film?

A

Target cells

39
Q

Patients with mild thalassaemia don’t usually require treatment. T/F?

A

True

40
Q

How is severe alpha thalassaemia treated?

A

Blood transfusion alongside iron chelating agents to prevent iron overload

41
Q

In what populations is beta. thalassaemia most common?

A

Mediterranean
African
South East Asian

42
Q

Describe the increasing severity of beta thalassaemia

A

One gene mutated - beta thalassaemia minor
Two genes mutated so that there is reduced beta chain synthesis - beta thalassaemia intermedia
Two genes mutated so that there is no beta chain synthesis - beta thalassaemia major

43
Q

Describe the pathophysiology of beta thalassaemia

A

When there’s a beta globin chain deficiency, free alpha globin chains accumulate within RBC and clump together to form intracellular inclusions which. damage the RBC membrane. This results in haemolysis (intravascular and extravascular) which causes pre-hepatic jaundice and hypoxia. Excess iron deposits from haemolysis can cause secondary haemochromatosis. Hypoxia can stimulate extra medullary haematopoiesis

44
Q

What are the symptoms of beta Thalassaemia minor?

A

Usually asymptomatic

45
Q

At what age do the symptoms of beta thalassaemia major usually appear? Why is this?

A

3-6 months, as up until this point HbF is still produced and uses up the free alpha chains

46
Q

What are the signs and symptoms of beta thalassaemia major?

A

Symptoms of anaemia
Jaundice
Swollen abdomen due. to hepatosplenomegaly
Growth retardation
Chipmunk face - enlarged forehead and cheek bones

47
Q

What are the signs and symptoms of secondary. haemochromatosis which may be seen in beta thalassaemia major?

A 
Arrythmias
Pericarditis
Cirrhosis
Hypothyroidism
Diabetes mellitus
48
Q

What is the characteristic x-ray appearance of beta thalassaemia major?

A

Hair-on-end appearance

49
Q

Describe the management of beta thalassaemia intermedia and major

A

Periodic blood transfusions but this. shouldn’t be done to often as this can cause iron overload which will worsen the haemachromatosis
Iron chelating agents (deferoxamine) can. be used
Splenectomy is performed when splenomegaly causes massive haemolysis

50
Q

What is sideroblastic anaemia?

A

A blood disorder where there’s a build-up of iron in the RBCs in the body causing them to be immature and dysfunctional

51
Q

Sideroblastic anaemia can be. congenital or acquired. What is. the most common congenital cause of this condition?

A

ALAS2 gene mutation (inherited in an x-linked manner) which causes dysfunction of one of the enzymes involved in haem synthesis

52
Q

What are the acquired causes of sideroblastic anaemia?

A

Excessive alcohol use
Vitamin B6 deficiency
Lead poisoning

53
Q

Vitamin B6 deficiency can cause sideroblastic anaemia. What drug can commonly cause vitamin B6 deficiency?

A

Isoniazid (used to treat TB)

54
Q

Describe the clinical presentation of sideroblastic anaemia?

A

Patients present very similarly to haemachromatosis as both conditions cause a build-up of iron
Signs and symptoms include fatigue, heart disease, liver damage, enlarged spleen, kidney failure and diarrhoea

55
Q

What are the expected FBC results in sideroblastic anaemia?

A

Low Hb

MCV is normal or low for congenital causes and normal or high for acquired causes

56
Q

What are the expected results from iron studies in sideroblastic anaemia?

A

High serum iron
Increased ferritin
Low total iron binding capacity

57
Q

Describe the management of sideroblastic anaemia

A

Removal of any toxins present
Administration of pyridoxine, thiamine and folic acid
Iron overload managed with therapeutic phlebotomy (bloodletting) and iron chelators
in severe cases, a bone marrow transplant or liver transplant may be needed

58
Q

Give an example of an iron chelator?

A

Deferoxamine

59
Q

What are the potential causes of aplastic anaemia?

A

Idiopathic
Congenital - fanconi’s, dyskeratosis congenita
Acquired - chemicals, ionising radiation, parvovirus, drugs (penicillamines, phenytoin, carbamazepine, carbimazole, sulphonylureas, gold)

60
Q

How is aplastic anaemia managed?

A

Treat the underlying cause
Supportive care
Immunosuppressants
Stem cell transplant

61
Q

What is the mode of inheritance of Diamond blackfan anaemia?

A

Autosomal dominant

62
Q

What is the mode of inheritance of Fanconi’s anaemia?

A

AR or X-linked

63
Q

At what age does Diamond blackfan syndrome typically present?

A

Birth

64
Q

At what age does Fanconi’s anaemia typically present?

A

Age 8

65
Q

How does Diamond Blackfan syndrome typically present?

A 
Low set ears
Micrognathia
Cleft palate
Short, webbed neck
Glaucoma
Cataracts
Strabismus
Flat thenar eminence
Absent / horseshoe kidney
Ventricular or atrial septal defects
Coarctation of the aorta
Anaemia
66
Q

What is the diagnostic test for Diamond Blackfan syndrome?

A

eADA - this will be increased

67
Q

How is Diamond Blackfan syndrome managed>

A

Steroids
Stem cell transplant
Transfusion

68
Q

How does Fanconi’s anaemia typically present?

A 
Pancytopenia
Microcephaly
Conductive deafness
Hypogenitalia
Cafe au lait spots
Imperforate anus
Congenital heart disease
69
Q

What is the diagnostic test for Fanconi’s anaemia?

A

Chromosome breakage assay

70
Q

How is Fanconi’s anaemia managed?

A

Androgens
G-CSF
Transfusion
Stem cell transplant

71
Q

What can trigger a sickle cell crisis?

A

Infection

Cold

72
Q

How is sickle cell anaemia managed?

A

Avoiding crisis triggers, pneumococcal vaccine, folate supplementation

In crisis - increased fluids, analgesia, rest

Transfusion + iron chelators
Hydroxycaramide
Stem cell transplant
Gene therapy trials

73
Q

What can trigger an aplastic crisis in sickle cell anaemia?

A

Infection

Folate deficiency

74
Q

What is the mode of inheritance of hereditary spherocytosis?

A

Autosomal dominant

75
Q

How can hereditary spherocytosis be distinguished from autoimmune haemolytic anaemia?

A

Direct Coombs tests - negative in HH

76
Q

How is hereditary spherocytosis managed?

A

Folate supplementation
Transfusion
Splenectomy

77
Q

What is the mode of inheritance of G6PD deficiency?

A

X-linked

78
Q

What factors can trigger haemolytic in G6PD deficiency?

A 
Anything which induces oxidative stress e.g. 
Antimalarials
Analgesics
Infections
Fava beans
79
Q

What findings are seen on blood film in G6PD deficiency?

A

Heinz bodies

Bite cells

80
Q

What is the mode of inheritance of Pyruvate kinase deficiency?

A

Autosomal recessive

81
Q

What type of antibodies are present in cold autoimmune haemolytic anaemia?

A

IgM

82
Q

What can cause cold autoimmune haemolytic anaemia?

A

Idiopathic
Lymphoproliferative disordrs
Infection - mycoplasma, infectious mononucleosis, viral pneumonia

83
Q

What type of antibodies are present in warm autoimmune haemolytic anaemia?

A

IgG and/or complement

84
Q

How is warm autoimmune haemolytic anaemia managed?

A

Steroids +/- other immunosuppressants, IVIG, splenectomy

Stop causative drugs

85
Q

What can cause warm autoimmune haemolytic anaemia?

A 
Idiopathic
Lymphoproliferative disorders
Connective tissue disease
Infection
Beta lactase

Haematology (10 decks)

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