Jewish Genetic Disorders

by Abel, Ernest L.

• ISBN13: 9780786409419
• ISBN10: 078640941X
• Format: Hardcover
• Copyright: 2001-08-01
• Publisher: McFarland Publishing

Summary

This guide to genetic disorders that tend to affect the Jewish population more than the nonJewish begins with a short history of the Jews and basic facts concerning genetics and genetic disorders. The in-depth 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.

Table of Contents

Acknowledgments	iv
Introduction	1	(10)
Basic Facts About Genetics and Genetic Diseases	11	(13)
Why the Jews?	24	(12)
Blood Disorders	36	(30)
Gaucher Disease	37	(7)
Factor XI Deficiency	44	(4)
Fanconi Anemia	48	(5)
Glanzmann Thrombasthenia	53	(1)
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency	54	(5)
Thalassemia	59	(7)
Cancer	66	(22)
Breast Cancer: The BRCA1 and BRCA2 Gene Mutations	69	(12)
Colorectal Cancer: The I1307K Mutation	81	(7)
Central Nervous System Disorders	88	(50)
Ataxia-telangiectasia	90	(4)
Canavan Disease	94	(5)
Creutzfeldt-Jakob Disease	99	(4)
Familial Dysautonomia aka Riley-Day Syndrome	103	(4)
Hunter Syndrome	107	(3)
Metachromatic Leukodystrophy	110	(3)
Mucolipidosis Type IV	113	(3)
Niemann-Pick Disease	116	(4)
Primary Torsion Dystonia	120	(6)
Tay-Sachs Disease	126	(12)
Connective Tissue Disorders	138	(5)
Familial Mediterranean Fever	138	(5)
Gastrointestinal Disorders	143	(16)
Inflammatory Bowel Syndrome: Ulcerative Colitis and Crohn's Disease	144	(11)
Lactose Intolerance	155	(4)
Metabolic and Endocrine Disorders	159	(30)
Abetalipoproteinemia	159	(3)
Congenital Adrenal Hyperplasia	162	(7)
Cystinuria	169	(4)
Essential Pentosuria	173	(1)
Familial Hypercholesterolemia	174	(8)
Familial Hyperinsulinism	182	(3)
Tarui Disease	185	(4)
Respiratory Disorders	189	(11)
Cystic Fibrosis	190	(10)
Sensory Disorders	200	(4)
Hearing Loss	200	(4)
Skin Disorders	204	(6)
Bloom Syndrome	204	(4)
Pemphigus Vulgaris	208	(2)
Eliminating Jewish Genetic Diseases	210	(7)
Glossary	217	(12)
Appendix: Screening Centers	229	(8)
Index	237