Haemoglobinopathy Diagnosis

Haemoglobinopathy Diagnosis
Edited by Barbara J. Bain
Blackwell Science, Oxford, UK, 2001; 260 pages.

Migration of populations throughout the world is making societies increasingly multiethnic, at least in the industrialized world. As a consequence, genetic heterogeneity of population is increasing and the diffusion of some inherited disease states that previously had a limited geographical distribution is now ubiquitous. Haemoglobinopathies exemplify this situation, since they are common conditions and most mutations and other genetic abnormalities responsible for thalassaemias, sickle cell haemoglobin and other variant haemoglobins can now be observed and must be diagnosed almost everywhere. Therefore, the correct diagnosis of red cell disorders involving haemoglobin is becoming an increasingly demanding task, since it is often necessary to look for rare haemoglobinopathies, and this is true not only in the industrialized world, such as West Europe, North America and Australia, but also in some developing countries where accurate diagnoses and even prenatal testing are gaining a more widespread diffusion. Researchers following patients with hereditary forms of anaemia and haemoglobinopathies must be aware of this problem and of the diagnostic possibilities actually available in the field.

Haemoglobinopathy Diagnosis addresses several topics related to haemoglobinopathies. The organization of the book is didactic, with sections on treating the genetics of haemoglobin and its pathophysiology, others describing the clinical features of different haemoglobinopathies and their interactions, and chapters illustrating the laboratory techniques more commonly used for diagnosis and the organization of a haemoglobinopathy service. This didactic approach is strengthened by the presence of a glossary introducing beginners to the technical terminology and by self assessment sections at the end of each chapter, presenting multiple choice tests to evaluate the level of knowledge of the reader.

Given the title, I expected to find a more practical manual reporting an in depth description of methods and diagnostic techniques used in the differential diagnosis of haemoglobinopathies. Although this is not the case, in fact laboratory techniques are described only qualitatively, the information provided by the book is extensive and clear, particularly in the sections illustrating the pathophysiology of haemoglobinopathies and their interactions. It, therefore, represents a useful tool for people working in the field by orienting those with less experience in the choice of the most appropriate diagnostic tests and in their interpretation.

Reviewed for Bloodline by:
Gaetano Bergamaschi
Department of Internal Medicine
Policlinico San Matteo
Pavia, Italy

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