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Anaemia

Anaemia. What is it?. Anaemia. Physiologically: Hb is below the level needed to deliver adequate oxygen to cells A range of worsening clinical features: - Mild dyspnoea on exertion, palpitation - excessive fatigue - Dyspnoea at rest, tachycardia, weakness, dizziness, headache, insomnia.

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Anaemia

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  1. Anaemia What is it?

  2. Anaemia Physiologically: Hb is below the level needed to deliver adequate oxygen to cells A range of worsening clinical features: - Mild dyspnoea on exertion, palpitation - excessive fatigue - Dyspnoea at rest, tachycardia, weakness, dizziness, headache, insomnia

  3. Anaemia Hb > 2 standard deviations below mean for age Mean Hb (g/dl) Anaemia below Birth 16.5 13.5 1 – 3 days 18.5 14.5 2 weeks 16.6 13.4 1 month 13.9 10.7 2 months 11.2 9.4 6 months 12.6 11.1 2 – 24 months 12.0 10.5 2 – 6 years 12.5 11.5 6 – 12 years 13.5 11.5 12-18 years (male) 14.5 13.0 12-18 years (female) 14.0 12.0 Adult (male) 15.5 13.5 Adult (female) 14.0 12.0

  4. Haemoglobin • Tetramer of 4 globin chains (proteins) • Each with a haem group containing iron • Can be distinguished by electrophoresis • Chain types – Alpha a – Beta b – Gamma g – Delta d – (Zeta and epsilon - embryonic)

  5. Haemoglobin • Binds oxygen and carries it to tissues • Takes carbon dioxide from tissues to lungs

  6. Haemoglobin

  7. Haemoglobin

  8. Red Cells

  9. Red Cells • Formed in bone marrow • Life span is 120 days (+/- 20 days) • Cleared in spleen • Reticulocytes are newly formed RBC If no new production, Hb drops 1 g/dl per week

  10. Red Cells • Function of red blood cell dependent on: – Hemoglobin type and content – Membrane stability – Energy production

  11. Causes of Anaemia – Increased Hb loss (Increased destruction of Rbc - usually bleeding) – Decreased Hb production Loss outstrips production

  12. Investigation of Anaemia • Clinical History – Diet – Blood loss – Family history – Recent illness or immunization – History of anaemia and cause

  13. Investigation of Anaemia • Physical Examination – Evaluate conjunctiva and mucous membranes for paleness – Cardiovascular system for murmur – Liver – Spleen – Nodes – Look for jaundice or purpura

  14. Blood Sciences • Haematological – Blood count – Reticulocyte count – Evaluation of red cell indices – Hb-opathy screen – Urinary haemosiderin Biochemical – Serum bilirubin – LDH

  15. Classification of Anaemias The Mean Cell Volume

  16. Classification of Anaemias Mean MCV (g/dl) • Birth 108.0 98 - 118 • 1 – 3 days 108.0 95 - 121 • 2 weeks 105.0 88 - 122 • 1 month 101.0 91 - 111 • 2 months 95.0 84 - 106 • 6 months 76.0 68 - 82 • 2 – 24 months 78.0 70 - 86 • 2 – 6 years 81.0 75 - 86 • 6 – 12 years 86.0 77 - 95 • 12-18 years (male) 88.0 78 - 98 • 12-18 years (female) 90.0 78 - 100 • Adult (male) 90.0 80 - 100 • Adult (female) 90.0 80 - 100

  17. Microcytic Anaemia Appearance: – Weakly staining red cells, small in size Causes: – Iron deficiency – Thalassemia – Lead poisoning

  18. Iron Deficiency Anaemia • Lack of adequate iron at birth – Low birth weight – Low Hb at birth • Poor iron intake • Loss of iron (GI or other bleeding)

  19. Iron Deficiency Anaemia • Symptoms – Anaemia – Irritability – Anorexia with poor weight gain – Behavioral changes Some of these may not be readily reversible with Fe treatment • Diagnostic tests – Hb and MCV are decreased – Ferritin decreased – TIBC increased

  20. Iron Deficiency Anaemia Treatment: iron 4-6 mg/kg/day In a 1-2 year old with a poor diet, therapy may consist of empiric course of oral iron without full workup - Reticulocyte count will rise in 4-5 days - Hb starts to rise at 1 week - Once normalized, continue Fe therapy 1-2 months to replace Fe stores in marrow - Make sure there is no source of GI bleeding - Consider malignancy if there is GI bleeding

  21. Iron Deficiency Anaemia

  22. Thalassaemia Due to deficiency of one or more globin genes Thalassaemia Minor – Defect in one chain – Mild hypochromic microcytic anemia – Normal life expectancy – Potential for homozygous children – Confirmed by HPLC – (NOT electrophoresis in the twenty-first century)

  23. Thalassaemia Due to deficiency of one or more globin genes Thalassaemia Major – Defect in both beta chains or more than one alpha chain – Decreased or no production of Hgb A – Hgb F 60-90% Clinical – Presents with severe anemia at 4-6 months Treatment – Transfusions

  24. Thalassaemia

  25. Iron deficiency or thalassaemia?

  26. There are other microcytic anaemias….

  27. Normocytic Anaemia

  28. Macrocytic Anaemia

  29. Macrocytic Anaemia

  30. Macrocytic Anaemia The cell size is due to problems in nuclear maturation because of: Vitamin B12 deficiency Folate deficiency

  31. Macrocytic Anaemia Two real causes of a nutritional anaemia 1 You ain’t eating enough

  32. Two real causes of a nutritional anaemia 1 You ain’t eating enough 2 You ain’t absorbing enough

  33. Two real causes of a nutritional anaemia 1 You ain’t eating enough 2 You ain’t absorbing enough but remember that the above can agrrevate any other anaemia.

  34. Vitamin B12

  35. Vitamin B12 Vitamin B12 is found in all animal products, so nutritional deficiency is rare in all except the fussiest eaters

  36. Vitamin B12 Vitamin B12 is found in all animal products, so nutritional deficiency is rare in all except the fussiest eaters It is not absorbed by the gut UNLESS it is bound to Intrinsic Factor (IF) which is secreted by parietal cells in the stomach lining

  37. Vitamin B12 Vitamin B12 is found in all animal products, so nutritional deficiency is rare in all except the fussiest eaters It is not absorbed by the gut UNLESS it is bound to Intrinsic Factor (IF) which is secreted by parietal cells in the stomach lining It is then carried around the body by three transport proteins - transcobalamins 1, 2 & 3.

  38. Vitamin B12 Vitamin B12 is found in all animal products, so nutritional deficiency is rare in all except the fussiest eaters It is not absorbed by the gut UNLESS it is bound to Intrinsic Factor (IF) which is secreted by parietal cells in the stomach lining It is then carried around the body by three transport proteins - transcobalamins 1, 2 & 3. In health the body stores several years worth of Vitamin B12

  39. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test

  40. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test 1 Inject a massive dose of Vitamin B12

  41. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test 1 Inject a massive dose of Vitamin B12 Corrects deficiency, fills stores, and more B12 absorbed will then be excreted

  42. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test 1 Inject a massive dose of Vitamin B12 Corrects deficiency, fills stores, and more B12 absorbed will then be excreted 2 Orally feed them Vit B12 with Co57 label and Vit B12+IF with Co58 label

  43. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test 1 Inject a massive dose of Vitamin B12 Corrects deficiency, fills stores, and more B12 absorbed will then be excreted 2 Orally feed them Vit B12 with Co57 label and Vit B12+IF with Co58 label 3 Collect urine for 24 hours

  44. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test 1 Inject a massive dose of Vitamin B12 Corrects deficiency, fills stores, and more B12 absorbed will then be excreted 2 Orally feed them Vit B12 with Co57 label and Vit B12+IF with Co58 label 3 Collect urine for 24 hours 4 If both isotopes are in the urine, the patient has no absorbtion problem.

  45. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test 1 Inject a massive dose of Vitamin B12 Corrects deficiency, fills stores, and more B12 absorbed will then be excreted 2 Orally feed them Vit B12 with Co57 label and Vit B12+IF with Co58 label 3 Collect urine for 24 hours 4 If both isotopes are in the urine, the patient has no absorbtion problem. If there is only the Co58 label in the urine the patient has an underlying disease

  46. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test Tee - Hee !!!!

  47. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test Meanwhile in the 21st century

  48. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test Meanwhile in the 21st century Schilling Tests are history

  49. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test Meanwhile in the 21st century Schilling Tests are history WHY ???

  50. Vitamin B12 Given a deficiency exists, it is investigated with the Schilling Test Meanwhile in the 21st century Intrinsic Factor antibody assay instead nowadays

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