Jewish Genetic Disorders

by Abel, Ernest L.

• ISBN13: 9780786440870
• ISBN10: 0786440872
• Format: Paperback
• Copyright: 2008-11-30
• Publisher: McFarland Publishing

Summary

This guide to genetic disorders that tend to affect the Jewish population more than the non-Jewish begins with a short history of the Jews and basic facts concerning genetics and genetic disorders. The information that follows is categorized under blood, cancers, central nervous system, connective tissue, gastrointestinal, metabolic or endocrine, respiratory, sensory, and skin. Included for each disorder is information on variations, frequency, symptoms, causes, diagnosis, transmission, treatment and prevention, and notes on where more information about each disorder can be obtained. A glossary of terms and index are provided.

Author Biography

Ernest L. Abel teaches at Wayne State University, where he has received the honor of "Distinguished Professor." He is also the author of more than forty other books and his articles have been published in various popular and scholarly magazines and journals.

Table of Contents

Acknowledgments	p. iv
Introduction	p. 1
Basic Facts About Genetics and Genetic Diseases	p. 11
Why the Jews?	p. 24
Blood Disorders	p. 36
Gaucher Disease	p. 37
Factor XI Deficiency	p. 44
Fanconi Anemia	p. 48
Glanzmann Thrombasthenia	p. 53
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency	p. 54
Thalassemia	p. 59
Cancer	p. 66
Breast Cancer: The BRCA1 and BRCA2 Gene Mutations	p. 69
Colorectal Cancer: The I1307K Mutation	p. 81
Central Nervous System Disorders	p. 88
Ataxia-telangiectasia	p. 90
Canavan Disease	p. 94
Creutzfeldt-Jakob Disease	p. 99
Familial Dysautonomia aka Riley-Day Syndrome	p. 103
Hunter Syndrome	p. 107
Metachromatic Leukodystrophy	p. 110
Mucolipidosis Type IV	p. 113
Niemann-Pick Disease	p. 116
Primary Torsion Dystonia	p. 120
Tay-Sachs Disease	p. 126
Connective Tissue Disorders	p. 138
Familial Mediterranean Fever	p. 138
Gastrointestinal Disorders	p. 143
Inflammatory Bowel Syndrome: Ulcerative Colitis and Crohn's Disease	p. 144
Lactose Intolerance	p. 155
Metabolic and Endocrine Disorders	p. 159
Abetalipoproteinemia	p. 159
Congenital Adrenal Hyperplasia	p. 162
Cystinuria	p. 169
Essential Pentosuria	p. 173
Familial Hypercholesterolemia	p. 174
Familial Hyperinsulinism	p. 182
Tarui Disease	p. 185
Respiratory Disorders	p. 189
Cystic Fibrosis	p. 190
Sensory Disorders	p. 200
Hearing Loss	p. 200
Skin Disorders	p. 204
Bloom Syndrome	p. 204
Pemphigus Vulgaris	p. 208
Eliminating Jewish Genetic Diseases	p. 210
Glossary	p. 217
Screening Centers	p. 229
Index	p. 237
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