Genetic Disorders of the Indian Subcontinent

by Kumar, Dhavendra, M.D.

• ISBN13: 9781402012150
• ISBN10: 1402012152
• Format: Hardcover
• Copyright: 2004-12-01
• Publisher: Kluwer Academic Pub

Summary

The population of the Indian subcontinent consists of a fine amalgamation of people from diverse tribal, cultural, religious and social backgrounds. Mortality and morbidity from a vast number of medical and surgical conditions is significant and well above compared to the developed countries. Although a large component of the human health problem is related to infection, malnutrition and other preventable causes, a significant proportion is linked to hereditary factors reflecting in the form of chromosomal, single gene and complex medical diseases. Unusual and unique Mendelian disorders are not uncommon and a number of common medical conditions, such as ischemic heart disease and diabetes mellitus are relatively more prevalent among those living in the developing countries of the Indian subcontinent and as well as among the migrant population groups in the western world. However, true burden of the inherited disorders among the Asian Indians is not known, and probably underestimated. This text includes a detailed and concise account of the social and cultural diversity, medical demography, genetic epidemiology, consanguinity and common genetic disorders affecting people from the Indian subcontinent. In addition, specific issues of genetic services in various regions are addressed.

Table of Contents

Foreword	ix
Professor Sir David J Weatherall
Preface	xi
Dhavendra Kumar
List of Contributors	xv
SECTION A: HUMAN GENETICS AND THE INDIAN SUBCONTINENT
The Indian subcontinent and human genetics: An introduction	1	(28)
Dhavendra Kumar
Ethnic and cultural diversity	29	(28)
Paramjit Gill
Jagbir Jhutti-Johal
Anil Gumber
Genomic and gene diversity	57	(24)
Surinder S. Papiha
Sarabjit S. Mastana
Epidemiology of genetic diseases	81	(8)
Ishwar C. Verma
Dhavendra Kumar
Immunogenetic basis of variation and disease susceptibility	89	(36)
Narinder K. Mehra
Gurvinder Kaur
Ritika Jaini
Consanguinity: cultural, religious and social aspects	125	(12)
Rafat Hussain
SECTION B: SELECTED GENETIC DISORDERS
Congenital developmental anomalies	137	(18)
Dhavendra Kumar
Malformation syndromes in India	155	(12)
Shubha R. Phadke
Down syndrome in India	167	(14)
Rajiva Raman
Inherited metabolic diseases among South Asians in the United Kingdom	181	(26)
Maureen Cleary
Anupam Chakrapani
Management of inherited metabolic diseases in India	207	(16)
Bal N. Apte
Indian childhood cirrhosis and other metabolic liver diseases	223	(22)
Ashish Bavdekar
Stuart Tanner
Thalassaemias and other haemoglobinopathies	245	(20)
John Old
Disorders of haemostasis and thrombosis	265	(10)
Liakat Parapia
Glucose-6-phosphate dehydrogenase deficiency and other inherited red cell defects	275	(16)
Roderick F. Hinchliffe
Ajay Vora
Genetic neurological and psychiatric diseases	291	(22)
Dhavendra Kumar
Michael A. Patton
Ajith Kumar
Inherited skeletal dysplasias and collagen diseases	313	(34)
Sanjeev Madan
James A. Fernandes
Dhavendra Kumar
Deafness and related syndromes	347	(22)
M. J. Parker
Ian D. Young
T.P. Hutchin
Genetic diseases of the eye in India	369	(30)
Govindasamy Kumaramanickavel
The genetics of cancer: the Indian subcontinent perspective	399	(14)
Dhavendra Kumar
Diabetes mellitus and related disorders	413	(34)
Dhavendra Kumar
Carani B. Sanjeevi
V. Radha
V. Mohan
Coronary heart disease and related diseases	447	(20)
Jatinder Dhawan
Diseases of the kidney: clinical spectrum and genetics	467	(12)
Michael Patton
The genetics of resistance to malaria	479	(22)
David Roberts
Thomas Williams
Arnab Pain
SECTION C: INDIAN SUBCONTINENT AND GENETIC SERVICES
Genetic disorders and medical genetics in India	501	(18)
Ishwar C. Verma
Genetic disorders and medical genetics in Sri Lanka	519	(22)
Deepthi C. de Silva
Genetic counselling for families from the Indian subcontinent	541	(14)
Dhavendra Kumar
Ethical issues in clinical genetics and the Indian subcontinent	555	(18)
Michael Parker
Glossary	573	(6)
Index	579