Jewish Genetic Disorders

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.

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.

Ernest L. Abel
Format: softcover (6 x 9)
Pages: 248
Bibliographic Info: notes, glossary, appendix, index
Copyright Date: 2008 [2001]
pISBN: 978-0-7864-4087-0
eISBN: 978-0-7864-5000-8
Imprint: McFarland

Acknowledgments      iv
Introduction      1

ONE. Basic Facts About Genetics and Genetic Diseases      11

TWO. Why the Jews?      24

THREE. Blood Disorders      36
Gaucher Disease      37
Factor XI DeFIciency      44
Fanconi Anemia      48
Glanzmann Thrombasthenia      53
Glucose-6-Phosphate Dehydrogenase (G6PD) DeFIciency      54
Thalassemia      59

FOUR. Cancer      66
Breast Cancer: The BRCA1 and BRCA2 Gene Mutations      69
Colorectal Cancer: The I1307K Mutation      81

FIVE. Central Nervous System Disorders      88
Ataxia-telangiectasia      90
Canavan Disease      94
Creutzfeldt-Jakob Disease      99
Familial Dysautonomia aka Riley-Day Syndrome      103
Hunter Syndrome      107
Metachromatic Leukodystrophy      110
Mucolipidosis Type IV      113
Niemann-Pick Disease      116
Primary Torsion Dystonia      120
Tay-Sachs Disease      126

SIX. Connective Tissue Disorders      138
Familial Mediterranean Fever      138

SEVEN. Gastrointestinal Disorders      143
Inflammatory Bowel Syndrome: Ulcerative Colitis and CrohnÕs Disease      144
Lactose Intolerance      155

EIGHT. Metabolic and Endocrine Disorders      159
Abetalipoproteinemia      159
Congenital Adrenal Hyperplasia      162
Cystinuria      169
Essential Pentosuria      173
Familial Hypercholesterolemia      174
Familial Hyperinsulinism      182
Tarui Disease      185

NINE. Respiratory Disorders      189
Cystic Fibrosis      190

TEN. Sensory Disorders      200
Hearing Loss      200

ELEVEN. Skin Disorders      204
Bloom Syndrome      204
Pemphigus Vulgaris      208

TWELVE. Eliminating Jewish Genetic Diseases      210

Glossary      217
Appendix: Screening Centers      229
Index      237

• “Superb…clearly answers questions…outstanding writing…well-organized…a wealth of information…current and comprehensive coverage…exceptional…a first choice selection”—Library Journal
• “Well-researched…clearly written”—Cleveland Jewish News
• “Masterful job of providing basic information about Tay-Sachs and dozens of other[s]…well-researched…clearly written…a major contribution”—Jewish Bulletin.