Anaemia - introduction + microcytic Flashcards

1
Q

What is the definition of anaemia?

A

haemoglobin (Hb) level <120 g/L (<12 g/dL) in females
<130 g/L (<13 g/dL) in males
<110 g/L (11 g/dL) in pregnant women

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2
Q

What is the most common cause of anaemia?

A

iron deficiency

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3
Q

what are the sx of anaemia?

A
fatigue
SOB
faintness
palpitations 
headache
tinnitus 
anorexia
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4
Q

How can anaemia present in coronary artery disease?

A

angina

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5
Q

What are possible signs of anaemia?

A

Pallor

Hyperdynamic circulation e.g. tachycardia, flow murmurs, cardiac enlargement

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6
Q

What are the causes of microcytic anaemia?

A
  1. Iron deficiency anaemia
  2. Thalassaemia
  3. Sideroblastic anaemia
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7
Q

What are the causes of normocytic anaemia?

A
  1. acute blood loss
  2. anaemia of chronic disease
  3. BM failure
  4. RF
  5. Hypothyroidism
  6. Haemolytic anaemia
  7. Pregnancy
  8. aplastic
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8
Q

What are the causes of microcytic anaemia?

A
  1. B12 or folate deficiency
  2. Alcohol XS
  3. Reticulocytosis
  4. Cytotoxics
  5. Myelodysplastic syndromes
  6. Marrow infiltration
  7. Hypothyroidism
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9
Q

What MCV level is microcytic anaemia?

A

<80fl

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10
Q

What MCV level is macrocytic anaemia?

A

> 100fL

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11
Q

what are the causes of iron deficiency anaemia?

A
  1. inadequate iron intake - malabsorption e.g. coeliac
  2. increased iron loss - menorrhagia, GI bleeding
  3. XS iron requirements
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12
Q

What are the key diagnostic features of iron deficiency anaemia?

A
  • fatigue
  • pica
  • nail changes - thinning, flattening, koilonychia (rare)
  • hair loss
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13
Q

What investigations would you do to confirm iron deficiency anaemia?

A
  1. FBC - Hb, MCV, MCH, MCHC, platelets
  2. peripheral blood smear
  3. serum ferritin, iron
  4. Transferrin
  5. low reticulocyte
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14
Q

What investigations may u consider to identify the cause of iron deficiency anaemia?

A
  1. Coeliac serology - IgA tissue transglutaminase + total IgA
  2. H. Pylori testing - IgG abs or faecal antigen, confirm w urease breath test or endoscopy w biopsy
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15
Q

What is the treatment of iron deficiency anaemia?

A
  1. oral iron - ferrous sulphate (2-3mg/kg/day in 2-4 doses)

2. ascorbic acid if response to oral iron is poor

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16
Q

How long should rx of IDA be continued after Hb correction?

A

3-6 months

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17
Q

When are transfusions recommended in IDA?

A

If haemodynamically unstable - symptomatic at rest w SOB, CP, presyncope

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18
Q

What are there causes of anaemia of chronic disease?

A

autoimmune disorders
malignancy
acute/chronic infection
critical illness, trauma

19
Q

What tests would u do in ACD?

A
  1. FBC
  2. Blood smear
  3. B12, folate
  4. TSH
  5. Tests for haemolytic
20
Q

what is the treatment of ACD?

A
  1. Rx underlying disease

2. Transfusion

21
Q

what is sideroblastic anaemia?

A

ineffective erythropoiesis

leading to ↑iron absorption, iron loading in marrow ± hae- mosiderosis

22
Q

what is haemosiderosis

A

endocrine liver and heart damage due to iron deposition

23
Q

What are the causes of sideroblastic anaemia?

A
  1. congenital

2. acquired - myelodysplasia, alcohol XS, anti-TB meds, lead XS

24
Q

What tests would you do for sideroblastic anaemia and what would you find?

A

Blood film - hypochromic microcytic anaemia

BM - sideroblastis + ↑ iron stores

25
Q

What is the rx of sideroblastic anaemia?

A

supportive
rx cause
pyridoxine may help

26
Q

What serum ferritin levels are diagnostic of IDA?

A

<12 ng/ml

27
Q

What would you see on peripheral blood smear in IDA?

A

Microcytic hypochromic pencil red cells

28
Q

What is the pathology underlying beta-thalassaemia?

A

mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis

29
Q

How is beta thalassaemia further subdivided?

A
  1. Minor - heterozygous
  2. Intermedia
  3. Major - homozygous
30
Q

How does beta thalassaemia minor present?

A

asymptomatic, carrier state

mild/absent anaemia

31
Q

How does beta thalassaemia intermedia present?

A

mod anaemia not requiring transfusions

splenomegaly

32
Q

How does beta thalassaemia major present?

A
severe anaemia in 1st year of life 
failure to thrive 
hepatosplenomegaly 
recurrent infections 
skull bossing 
osteopenia
33
Q

What may appear on skull XR in beta thalassaemia major?

A

Hair on end sign

34
Q

what is the inheritance pattern of beta thalassaemia?

A

autosomal recessive

35
Q

What is seen on blood film in beta thalassaemia?

A

microcytic anaemia
tear drops
target cells
microspherocytes

36
Q

What is the treatment of beta thalassaemia trait?

A

genetic counselling

avoid iron supplementation

37
Q

What is the treatment of beta thalassaemia major?

A

regular red cell transfusions (keep Hb >100g/dl)
Iron chelation - desferrioxamine
Splenectomy if massive

38
Q

What is the treatment of beta thalassaemia intermedia?

A

transfusions if profound anaemia

39
Q

What is the risk of repeated transfusions? what can be done to reduce the risk?

A

damage of endocrine glands, liver, pancreas and heart
death in 2nd decade from HF
Reduce: iron chelation, ascorbic acid

40
Q

What chromosomes are affected in alpha and beta thalassaemia?

A

beta - 11

alpha - 16

41
Q

How can alpha thalassaemia present?

A

asymptomatic carrier state to incompatible with life

42
Q

How does AT present if all 4 alpha genes are deleted?

A

death in utero - Bart’s hydrops

43
Q

How does AT present if 3 alpha genes are deleted?

A

moderate anaemia

features of haemolytic - hepatosplenomegaly, leg ulcers, jaundice

44
Q

How does AT present if 2 genes are deleted?

A

asymptomatic carrier satte w hypochromic microcytic blood film but normal Hb