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Genetics for Haematologists: The Molecular Genetic Basis of Haematological Disorders
  1. Andrew J Green

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    Wadie F Bahou. ReMEDICA Genetics for . . . Series. Series Editor, Eli Hatchwell. (Pp 142; £25.) London: ReMEDICA Publishing. 2000. ISBN 1 901346 11 0.

    This book is a relatively small monograph of 130 pages, which is part of a series published by ReMEDICA, each monograph aimed at being a succinct summary of genetic disorders seen by a relevant medical speciality. The series aims to bring non-genetic specialists up to date both in relation to genetics in general and their own speciality. The book is effectively in two parts, the first being a list of 32 different haematological disorders, and the second being just over 30 pages of basic molecular (but not clinical) genetics, with an attached glossary. The second part is presumably common to each book in the “ReMEDICA Genetics for . . .” series. The listings for each disease are standardised under a set of headings which include the disease MIM number, gene locus, mutational spectrum, age of onset, epidemiology, inheritance, clinical features and diagnosis, special features, and gene size.

    Given the need for brevity to produce a small monograph, a great deal of information is packed into each two or three page entry. There is often considerable discussion on the biological mechanisms of disease and only a brief mention of clinical details. The discussions on the nature of disease mutations are very useful, and give broad indications as to whether molecular genetics is easily applicable for the particular disease in question.

    There is no weighting as to the clinical significance of disease, for example, von Willebrand's disease and the haemophilias get roughly as much detail as other far rarer disorders. Controversies over thrombotic predisposition alleles such as factor V Leiden are only briefly alluded to, and could give the impression that the issues over factor V Leiden are cut and dried.

    It is also not clear why some haematological disorders are included or excluded in the book. Paroxysmal nocturnal haemoglobinuria and neonatal alloimmune thrombocytopenia are both included, although neither is a germline disease, one being a somatic mutation, and the other an autoimmune disease targeted against specific antigens. However, no mention is made of the enormous genetic contribution at a diagnostic service level to the management of leukaemias from conventional and molecular cytogenetics, and more recently from molecular genetics. The title of the book is somewhat misleading, as a haematologist might expect more on the genetic aspects of leukaemia, one of the major diseases in haematology. The first thing an undergraduate might recall of genetics and haematology is the Philadelphia chromosome, which doesn't actually get a mention.

    There is a noticeable absence of illustrations, both in the disease specific section and the general genetic section of the book. Most basic genetics concepts are better explained by good illustrations, which would have added much to the book. Patterns of inheritance are not explained and the role of a clinical genetic service in the management of genetic disease is not mentioned.

    I am reluctant to recommend this book to geneticists, as much of the information on any specific haematological disease is already available elsewhere. For haematologists, the book has much useful information in a snapshot form. However, for dealing with a patient with one of the diseases mentioned, a haematologist will need much more detail than is presented in the book.

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