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The Thalassaemia Syndromes

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In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clini... Weiterlesen
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In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics, prevention and treatment. It is aimed at specialists in haematology in the laboratory or clinical setting, particularly in areas where thalassaemia is common either in the native population or in immigrant communities.

The fourth edition has been both updated and re-organized. Three new chapters have been added on the link between alpha-thalassaemia and mental retardation, on avoidance and population control and on global epidemiology. Considerable emphasis is placed on molecular pathology reflecting the huge burst of information to have come out of this field in the last few years.

The thalassaemias, the commonest single gene diseases, are a heterogeneous family of inherited disorders of haemoglobin. In many countries they constitute a major public health problem and are a severe drain on medical resources. Thalassaemias were among the first diseases to be studied at the molecular level and much is now known about the genetic basis for their remarkable clinical variability. Hence their study has provided a model for understanding the clinical diversity of monogenic diseases in general.

The new fourth edition of this highly-acclaimed book has been completely rewritten and re-organized to provide a detailed review of the entire thalassaemia field, including the structure and genetic control of normal haemoglobin, the molecular pathology of the different forms of thalassaemia, a description of their clinical features and their interactions with different haemoglobin variants, and a full description of their population control, diagnosis, and management.

The new Fourth Edition contains

? Colour illustrations of patients, blood films and tissue sections
? Completely new sections on the syndromes of a thalassaemia and mental retardation, molecular pathology, population genetics, the ethical issues raised by programmes for population control, and a new section on experimental forms of treatment which may be of relevance in the future
? A greatly expanded section on the management of thalassaemia
? Extensive tables of the interactions of the different thalassaemia alleles
? An appendix providing the addresses of thalassaemia societies in countries throughout the world

Thalassaemia Syndromes is a unique reference that is devoted entirely to the different forms of thalassaemia. It provides an extensive bibliography of reference to all the original descriptions of the different thalassaemia interactions and will provide an indispensable reference source for clinicians and laboratory technical staff investigating these disorders.

Authors and Contributors.

Preface to the Fourth Edition.

Preface to the First Edition.


Part 1 Historical Background.

1. Historical Perspectives: The Many and Diverse Routes to our Current Understanding of the Thalassaemia Syndromes.

Part 2 The Biology of The Thalassaemias.

2. Human Haemoglobin.

3. Thalassaemia: Classification and Relationship to Other Inherited Diseases of Haemoglobin.

4. The Molecular Pathology of the Thalassaemias.

5. Pathophysiology of the Thalassaemias.

6. The World Distribution and Population Genetics of Thalassaemia.

Part 3 Clinical Features of the Thalassaemias .

7. The beta Thalassaemias.

8. The delta beta and Related Thalassaemias.

9. The beta and delta beta Thalassaemia in Association with Structural Haemoglobin Variants.

10. Hereditary Persistence of Fetal Haemoglobin.

11. The alpha Thalassaemias and Their Interactions with Structural Haemoglobin Variants.

12. Thalassaemia withmental retardation or Myelodysplasia.

13. Thalassaemia Intermedia.

Part 4 Diagnosis and management of thalassaemia. .

14. Avoidance and Population Control.

15. Management and prognosis.

16. Laboratory Diagnosis of the Thalassaemias.

Part 5 The Future.





Titel: The Thalassaemia Syndromes
EAN: 9780470695944
ISBN: 978-0-470-69594-4
Digitaler Kopierschutz: Adobe-DRM
Format: E-Book (pdf)
Herausgeber: Wiley-Blackwell
Genre: Klinische Fächer
Anzahl Seiten: 864
Veröffentlichung: 30.04.2008
Jahr: 2008
Auflage: 4. Aufl.
Untertitel: Englisch
Dateigrösse: 8.4 MB
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