Anaemias : Diagnosis and Classification Flashcards

1
Q

What is anaemia down to?

A
  1. Failure of production of RBC
  2. Destruction of RBC
  3. Loss of RBC
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2
Q

The production of sufficient numbers of functional red blood cells is dependant on what 4 things ?

A
  1. Synthesis of haem
  2. Synthesis of globin chains and incorporate to form Hb
  3. Effective erythropoiesis
  4. Functional bone marrow environment
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3
Q

What can cause too little iron?

A
  1. Reduced absorption by the GIT

2. Using too much iron during erythropoiesis

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4
Q

What enhances the absorption of iron ?

A

Vitamin C

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5
Q

Where is iron absorbed and which iron is absorbed easier?

A
Across the GI epithelial cells 
Haem iron (animal sources) >>>> non haem iron
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6
Q

What packages iron and why is this needed ?

A

Ferritin

Free intracellular iron is toxic

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7
Q

A low ferritin level is indicative of what?

A

Iron deficiency

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8
Q

What are the 4 tests to assess the iron profile ?

A
  1. Serum iron
  2. Ferritin
  3. Transferrin
  4. Transferrin saturation
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9
Q

What type of anaemia is iron deficiency anaemia?

A

Microcytic (low MCV) , (Low MCH and Low MCHC) anaemia

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10
Q

Where are our genes for alpha globin?

A

Chromosome 16

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11
Q

Where are is our beta globin gene?

A

Chromosome 11

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12
Q

Give an example of quantitative anaemia.

A

Thalassaemia

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13
Q

Give an example of qualitative anaemia.

A

Sickle cell disease

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14
Q

What mutations fully and partially inhibit the synthesis of the beta globin in beta thalassemia?

A

Completely - B0 type mutations

Partially - B+ type mutations

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15
Q

What occurs due to a failure of B globin chain production ?

A

— It results in an imbalance between alpha and beta chains

— free alpha chains are highly unstable which causes intramedullary destruction of red cell precursors and ..

— shortened life span of red blood cells that make it into circulation (haemolysis)

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16
Q

What are patients with beta thalassemia major dependent upon?

A

Transfusions

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17
Q

What are the three types of beta thalassemia ?

A

Beta thalassemia major
Beta thalassemia intermedia
Beta thalassemia minor

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18
Q

What disease do you get if you inherit 3 bad alpha globin chains?

A

Hb H thalassemia

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19
Q

What forms Hb S?

A

A change in the B globin gene on chromosome 11 with a Glu going to a Val

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20
Q

What can cause low O2?

A
  1. Infection
  2. Acidosis
  3. Dehydration
  4. Vigorous exercise
  5. Surgery
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21
Q

What type of anaemia is sickle cell anaemia and what does this mean?

A

Haemolytic (cells are being destroyed quicker than they are being produced)

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22
Q

What are some acute complications of small vessel obstruction ?

A
  1. Painful crisis
  2. Acute chest syndrome
  3. Priapism
  4. Stroke
  5. Acute anaemia
  6. Aplastic crisis
  7. Multi-organ failure
  8. Acute cholecystitis
23
Q

What are some chronic complications of small vessel obstruction?

A
  1. Nephropathy
  2. Chronic pain
  3. Pulmonary hypertension
  4. Retinopathy
  5. Neurological impairment
  6. Hyposplenism
24
Q

What does your spleen part of ?

A

Immune response

25
Q

What does a high reticulocyte count indicate ?

A

It tell us that our bone marrow is working incredibly hard to push out the red cells and this is usually in response to something

26
Q

Numbers of reticulocytes are _____ in the bone marrow and _____ in the peripheral blood

A

High

Low

27
Q

What are B12 and floaters essential in the formation of?

A

Purines and pyrimidines

28
Q

Where do we get B12 and folate ?

A

Dietary intake

29
Q

What binds to B12 in the stomach?

A

Specialised gastric parietal cells release intrinsic factor into the system and these binds the B12 within it

30
Q

Where does B12 come from ?

A

Animal sources only

31
Q

Where does absorption of B12 occur?

A

Distal small intestine

32
Q

Where is erythropoietin found?

A

In the kidneys

33
Q

What does erythropoietin cause?

A
  • Activation of HIF
  • Increases EPO gene transcription and translation
  • Causes increase in RBC production
34
Q

What would you expect from a mutation causing constitutive activation of HIF?

A

Stimulate EPO production causing and increase RBC production leading to polycythaemia

35
Q

What does increased hepicidin affect ?

A

How our body is able to absorb iron across gut membrane

36
Q

What can occur as a result inflammation malignancy is chronic conditions ?

A
  1. Increased hepicidin
  2. Relative decrease in erythropoiesis
  3. LEADS TO FAILURE IN RBC PRODUCTION
37
Q

What does aplasia mean?

A

Inability to form a cell you are interested in

38
Q

How is red cell aplasia marked?

A

Severe reticulocytopenia

39
Q

What are the acquired causes of aplastic anaemia ?

A
  • infection (parvovirus B19)
  • drugs
  • autoimmunity
  • malignancy
40
Q

What is the congenital cause of aplastic anaemia ?

A

Diamond blackfan anaemia

41
Q

What can parvovirus B19 cause ?

A

A transient block in erythropoiesis

42
Q

What can cause failure of the bone marrow environment ?

A
  • infiltration by malignant cells
  • infiltration disease
  • immune destruction
  • drug destruction
43
Q

What does haemolytic anaemia describe ?

A

Any process in which there is increased breakdown or destruction of mature RBCs resulting in a shortened life span

44
Q

What can indicate a breakdown in RBCs ?

A
  • anaemia
  • raised bilirubin
  • raised LDH
  • decreases haptoglobin
  • increased reticulocytes
  • positive Coombes test
  • spherocytes, schistocytes
45
Q

What is bilirubin?

A

The breakdown product of haem

46
Q

When is LDH released ? (Lactate dehydrogenase)

A

RBCs are broken down

47
Q

What else causes high LDH?

A
  • malignancy

- other tissue damage

48
Q

What causes unconjugated hyperbilirubinaemia?

A
  • overproduction of bilirubin

- failure to conjugate bilirubin

49
Q

What are congenital problems that cause haemolytic anaemia ?

A
  • membrane problems
  • enzyme production
  • haemoglobin problems
50
Q

What are the acquired causes of haemolytic anaemia ?

A
  • mechanical
  • immune
  • drugs
  • infection
  • other
51
Q

What enzyme problems can cause haemolytic anaemia ?

A
  • G6PD deficiency

* Pyruvate Kinase deficiency

52
Q

What are microcytic RBCs indicative of?

A
  • iron deficiency

- thalassemia

53
Q

What are macrocytic RBCs indicative of?

A
  • B12 / folate deficiency
  • alcohol / drugs
  • haemolysis
  • hypothyroidism
  • bone marrow infiltration
  • pregnancy
54
Q

What problems can someone have with normocytic RBCs?

A
  • acute bleeding
  • anaemia chronic disease
  • mixed aetiology