Brief Table of Contents [CE1] i Foreword ii Preface iii Reference Ranges (adult) (1) List of Cases 1. An active professional health worker with a serious genetic disorder 2. Plot twist from clot missed 3. Unstable: but stable 4. Nurture and nature 5. Patient knows best 6. Not only males are affected 7. A levels without haemoglobin A 8.
A hot blood smear 9. More yellow than sick 10. A blue baby with a normal heart 11. Detecting and managing point mutations 12. A gush of oxygen for the baby 13. PA: not a Power-Act 14. Sicily in my blood 15. A storm of half-ghosts 16.
Honora medicum 17. Failing to switch 18. Rosettes without a trophy 19. Too little beta and too much alpha 20. Missing something you never knew you ought to have 21. Two variants walk into a blood cell . 22 Low GPI, high GPA 23. Split A2: a cue to Q 24.
A Celtic trait? 25. Cold may not be cool 26. When it rains, a microbe makes it pour 27. Double membranes may prove ineffective 28. Being less but being dominant 29. Two enzymes down, still standing 30. Sickle cell disease at 75 31. Strong but frail 32.
Troublesome symbiotic relationship 33. Not letting go 34. Hellenic class A 35. When the sickle stabs the kidney 36. Dry cells, fake potassium, real iron 37. Hb on target 38. Too little beta and too little alpha 39. Salt lake and salt bridges 40.
Small red cells with a difference 41. Double jeopardy when facing complement 42. Camden town: not just the market 43. High on O and mutating again 44. Epigenetic upheaval can make you alpha-broke 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. (2 ) Index 1. Sickle cell/β0 thalassaemia disease with +-thalassaemia trait.
2. Portal hypertension and iron overload in a patient with PNH. 3. Chronic haemolytic anaemia caused by Hb Bushwick, homozygous state. 4. Nutritional deficiencies of folate and iron in a patient with beta thalassaemia trait and chronic renal failure. 5. Sickle cell/β0 thalassaemia disease, possibly ameliorated by + thalassaemia; and mild iron deficiency.
6. Kernicterus in a girl heterozygous for G6PD deficiency: G6PD Cairo. 7. β-thalassemia (homozygous for IVS II nt 1 mutation), heterozygous for -thalassemia, resulting in NTDT (thalassaemia intermedia phenotype). 8. Pyropoikilocytosis with bi-allelic PIEZO1 mutation in a heterozygote for G6PD deficiency. 9. Chronic low grade haemolytic disorder due to heterozygous state for haemoglobin Köln.
10. Methaemoglobinaemia due to cytochrome b5 reductase (diaphorase) deficiency; associated with G6PD deficiency. 11. Transfusion-dependent thalassaemia resulting from genetic compound β0 (IVS 1 nt 1 GâA)/ β+ (IVS 1 nt 6 TâA). 12. Compound heterozygote for two different β-thalassaemia genes (β0/β+), with co-existing heterozygous alpha thalassaemia. 13. Pernicious anaemia.
14. Heterozygous for Sicilian δβ-thalassaemia. 15. Acute haemolytic anaemia in an infant with G6PD deficiency. 16. Homozygous sickle cell anaemia with -thal trait and a rare type of G6PD deficiency; multiple red cell antibodies and hyper-haemolytic syndrome.causing severe haemolytic transfusion reaction. 17.
Homozygous (Aγδβ)0 thalassaemia (thalassaemia intermedia). 18. Autoimmune haemolytic anaemia with intravascular and extravascular haemolysis manifesting during early pregnancy. 19. Thalassaemia intermedia, mild, resulting from interaction of triplicated alpha-gene and heterozygous state for the β-thalassaemia mutation IVS 1 nt 1 (GâA). 20. Infantile pyknocytosis in a child with glutathione peroxidase deficiency secondary to a neonatal deficiency of selenium. 21.
Homozygous Haemoglobin C in combination with alpha G variant. 22. Glucose-6-phosphate isomerase (GPI) deficiency. 23. Double heterozygote for β+ thalassaemia and Hb Q-India. 24. Acquired iron deficiency in a Celtic heterozygous for haemoglobin D Punjab. 25.
Monoclonal gammopathy (IgMκ) with cold agglutinin disease of 21 years duration: now B-cell lymphoma. 26. Mycoplasma pneumoniae pulmonary infection in a patient with homozygous sickle cell anaemia, + thalassaemia trait and G6PD deficiency. 27. Congenital dyserythropoetic anaemia: CDA type II. 28. β-thalassaemia intermedia (also referred to as "dominant β-thalassaemia" or inclusion-body β-thalassaemia trait), due to a single mutant β-globin allele producing abnormal β-chains. 29.
Congenital haemolytic anaemia due to pyruvate kinase deficiency, with coexistent glucose-6-phosphate dehydrogenase deficiency. 30. Sickle cell/β+ (-29 AâG) thalassaemia disease with + thalassaemia. 31. Heterozygous Haemoglobin Sabine. 32. Bone marrow-pancreas Pearson''s syndrome. 33.
Patient heterozygous for the high O2 affinity haemoglobin Heathrow. 34. Chronic non-spherocytic haemolytic anaemia (CNSHA) due to G6PDHarilaou (a new class A variant). 35. Renal failure and G6PD deficiency in a patient with homozygous sickle cell disease who had conspicuous, intravascular haemolysis. 36. Hereditary Xerocytosis with haemochromatosis. 37.
Haemoglobin C/HPFH and + thalassaemia. 38. Thalassaemia intermedia due to interaction of beta thalassaemia trait (IVSII-654) and bi-allelic alpha thalassaemia (--SEA/-3.7). 39. Chronic non-spherocytic haemolytic anaemia (CNSHA) due to G6PD Salt Lake. 40. Patient homozygous for Hb E; sometimes referred to as haemoglobin E disease.
41. PNH and G6PD deficiency: impaired response to eculizumab. 42. Iron deficiency anaemia due to blood loss in a patient who is a genetic compound for Hb S and Hb Camden. 43. Heterozygous for haemoglobin North Middlesex(β6 GluâLys: β37 TryâArg), a new haemoglobin arising from two β-globin mutations in cis . 44. MDS & acquired Hb H.