Jewish Genetic Disorders

A Layman’s Guide


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About the Book

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.

About the Author(s)

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.

Bibliographic Details

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

Table of Contents

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

Book Reviews & Awards

“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.