Case reports that illustrate a logical stepwise approach to the understanding of common and rare haematological problems
Illustrative Case Studies in Haematology – Red Cell Riddles – is an educational book describing how the microscope, haematological findings, biochemical and molecular studies are used to reach a diagnosis. The book consists of 44 individual real-life case reports. Each case includes a brief clinical history, basic laboratory investigations, and initial impressions, leading to one or more possible diagnoses. Then, through more targeted investigations, the authors deliver a final diagnosis, which in most cases is at the molecular level.
For each case, a brief discussion is included, highlighting critical clinical and laboratory features, as well as recent progress in the area. Each individual case illustrates the close connection, in contemporary medicine, between clinical findings, haematological findings, and molecular analysis.
Illustrative Case Studies in Haematology includes:
- Patients with sickle cell disease, ranging from nearly asymptomatic to life-threatening
- Patients with different forms of thalassaemia
- Kernicterus in a G6PD deficient female infant
- Acquired alpha thalassaemia and myelodysplastic syndrome
- Paroxysmal nocturnal haemoglobinuria in a G6PD deficient patient
- The first case ever reported of homozygosity for an unstable haemoglobin
- Cases with long-term follow-up spanning decades, demonstrating disease progression, complications and therapeutic outcomes
Illustrative Case Studies in Haematology includes patients from many different countries: therefore it may hold value to haematologists throughout the world, seeking to diagnose both common and rare disorders with clarity and confidence. The book is also highly appropriate for trainee haematologists, biomedical scientists and medical students.
About the Author
Lucio Luzzatto received his MD from the University of Genova in 1959 and has held positions at universities in five countries in three continents. He is currently an honorary professor of haematology at the University of Florence; and a Foreign Member of the Accademia dei Lincei.
David Roper has now retired from his role as Principal Biomedical Scientist at Hammersmith Hospital, Imperial College, London, UK. He has co-written several chapters in major textbooks.
Table of Contents
Foreword v
Preface vii
Reference Ranges (adult) x
List of Cases
1. An active professional health worker with a serious genetic disorder 1
2. Plot twist from clot missed 5
3. Unstable: but stable 13
4. Nurture and nature 23
5. Patient knows best 29
6. Not only males are affected 36
7. A levels without haemoglobin A 42
8. A hot blood smear 48
9. More yellow than sick 58
10. A blue baby with a normal heart 66
11. Detecting and managing point mutations 73
12. A gush of oxygen for the baby 83
13. PA: not a Power-Act 91
14. Sicily in my blood 99
15. A storm of half-ghosts 106
16. Honora medicum 112
17. Failing to switch 123
18. Rosettes without a trophy 130
19. Too little beta and too much alpha 139
20. Missing something you never knew you ought to have 146
21. Two variants walk into a blood cell ... 154
22. Low GPI, high GPA 159
23. Split A2: a cue to Q 167
24. A Celtic trait? 173
25. Cold may not be cool 178
26. When it rains, a microbe makes it pour 187
27. Double membranes may prove ineffective 192
28. Being less but being dominant 200
29. Two enzymes down, still standing 208
30. Sickle cell disease at 75 215
31. Strong but frail 221
32. Troublesome symbiotic relationship 231
33. Not letting go 240
34. Hellenic class A 247
35. When the sickle stabs the kidney 255
36. Dry cells, fake potassium, real iron 264
37. Hb on target 275
38. Too little beta and too little alpha 283
39. Salt lake and salt bridges 290
40. Small red cells with a difference 298
41. Double jeopardy when facing complement 304
42. Camden town: not just the market 313
43. High on O2 and mutating again 320
44. Epigenetic upheaval can make you alpha-broke 327
For a few of the titles in this list (only a few) we received help from ChatGPT, that we openly acknowledge. Initially we were surprised that AI could be witty: but of course AI has acquired 'data' from e.g. Terry Pratchett and P G Wodehouse, not just from Dante Alighieri and William Shakespeare.
This brings up a sticky issue: in the realm of science, is it advisable or even allowed to use ChatGPT at all? Our short answer is yes. A more articulate answer includes the following. (1) You can ask simple or complex questions, but you must always check ChatGPT's replies by finding and reading the original sources in the scientific literature. (2) You can broach a topic with ChatGPT just for the purpose of elaborating on your own ideas. (3) If you disagree with ChatGPT, consider it may be wrong: stick to your guns.
Artificial intelligence should stimulate, not thwart natural intelligence.
