Illustrative Case Studies in Haematology

Case reports illustrating approaches and applications to various haematological problems

Illustrative Case Studies in Haematology is an educational book describing haematological, biochemical and molecular approaches to reach a diagnosis of common and rare blood disorders. 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 investigation, the authors reach a final diagnosis, which is frequently at the molecular level.

For each case, a brief discussion is included, highlighting critical clinical and/or 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 discusses:

• Patients with sickle cell disease ranging from nearly symptomless to life-threatening
• Patients with different forms of thalassaemia
• Kernicterus in a G6PD deficient female infant
• Alpha thalassaemia and myelodysplastic syndrome (ATMDS), a rare combination caused by an acquired ATRX somatic mutation
• Paroxysmal nocturnal haemoglobinuria in a G6PD deficient patient
• The first case ever reported of homozigosity for an unstable haemoglobin
• Cases with long-term follow-up spanning decades, demonstrating disease progression, complications and therapeutic outcomes

Illustrative Case Studies in Haematology holds enormous 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.