genetic disorders among arab populations || || front_matter
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Genetic Disorders Among Arab Populations
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Ahmad S. TeebiEditor
Genetic Disorders AmongArab Populations
Second Edition
EditorAhmad S. TeebiWeill Cornell Medical College in QatarQatar FoundationDohaEducation [email protected]
First edition published by Oxford University Press, 1997.
ISBN 978-3-642-05079-4 e-ISBN 978-3-642-05080-0DOI 10.1007/978-3-642-05080-0Springer Heidelberg Dordrecht London New York
Library of Congress Control Number: 2010932676
# Springer-Verlag Berlin Heidelberg 2010This work is subject to copyright. All rights are reserved, whether the whole or part of the material isconcerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting,reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publicationor parts thereof is permitted only under the provisions of the German Copyright Law of September 9,1965, in its current version, and permission for use must always be obtained from Springer. Violationsare liable to prosecution under the German Copyright Law.The use of general descriptive names, registered names, trademarks, etc. in this publication does notimply, even in the absence of a specific statement, that such names are exempt from the relevant protectivelaws and regulations and therefore free for general use.
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To my parents, brothers and sisters, and my children Saeed, Basel, Asil and Asmaand the whole Arab Family.
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Acknowledgements
The editor is grateful to the authors of the individual chapters who welcomed the
initiative and were keen to provide their contributions on time. Special thanks to
Professor Charles R. Scriver, who made the effort to write the foreword to this
book. I am thankful to my wife Mrs. Amal Teebi for her encouragement and support
and to Saeed Teebi for his assistance in some parts of the manuscript.
The assistance of Mrs. Mariette D’ Souza, Gemma Fabricante and Martin
Marion from Weill Cornell Medical College in Qatar, in preparation of some
chapters and maps, is greatly appreciated.
I express my gratitude also to Springer press and in particular to Andrea Pillman
and Ursula Gramm for their help in the publication of this book.
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Foreword
Genetic Disorders among Arab Populations by Ahmad S. Teebi and co-authors
appears here in its second edition. The first edition (in 1997) shows how one could
tap into a rich load of information on human and medical genetics, a source
probably too little mined until now. One can be pleased that the first edition was
warmly welcomed by Prof. Victor McKusick, the author of the Foreword to that
edition. The authors of this edition have taken pains to remind us again that persons
and patients, and the corresponding families and communities, represent a stream of
human history and a region of the world that embraces ethnic, cultural and religious
attributes more diverse than we might have imagined, yet with a commonality that
gives “coherence to an account of it and a usefulness [when it is considered] as a
unit” (VA McKusick, Foreword to first edition).
Arab populations have their repertoire of genetic disorders, both universal and
particular. Genetic diversity within these source populations, along with the fact
that rates of inbreeding are often high and family sizes are often large, constitutes
conditions that facilitate the emergence and detection of phenotypes explained
notably by autosomal recessive inheritance, in which case, the use of homozygosity
gene mapping will facilitate discovery of the corresponding genes. Meanwhile, the
interval between the publication of the first and second editions of genetic disorders
has witnessed emergence of the Middle East Genetic Association of America and
the creation of ethnic (Arabic)-related, locus-specific mutation databases to serve as
nodes in the network of related interests. Driven by relevant research interests,
initiatives are emerging in the Arabic world to address issues such as taxonomy and
fine-grained descriptions of variant disease phenotypes, their origins, distributions
and frequencies in populations, their molecular infrastructure, and with a better
knowledge of their pathogenetic processes, better opportunities to address coun-
seling, prevention and treatment.
The authors of the second edition have again chosen not to provide an exhaustive
list of relevant genetic disorders; that can be done eventually when there is a curated
online database. Rather, the authors again highlight various issues and perspectives
that can be seen through the windows offered by a number of prevalent genetic
disorders in the Arabic world. Accordingly, the attitudes and responses generated
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by these problems, as they are influenced by Islamic perspectives, wisely constitute
the recurrent underlying theme in the book, because the cultures and faith of the
Arabic communities yield quite different responses and perspectives from the
corresponding encounters in the non-Islamic world. It is a particular form of a
larger issue attracting notice (viz. Suther and Kiros, Genet Med 11:655–662, 2009;
Krotoski et al. Genet Med 11:663–668, 2009).
The authors use prevalent, pan-Arabic disorders (Table 1.1), along with a
selection of rarer “founder” disorders (Table 1.2), to delve into the biological
explanations for their occurrence and impact. These disorders set the scene to
explain important demographic issues, the related population dynamics, indicators
of individual collective health, and the impacts of endogamy and consanguinity on
the frequencies and distribution of the disorders. Familial Mediterranean Fever, for
example, illustrates these perspectives well and is highlighted accordingly. The
authors examine 15 different countries and regions harbouring Arabic populations,
to discern issues with more specific aspects. One might say that in this diversity,
there is a unity and vice versa. Consolidations of the expanding information on
genetic disorders in Arabic populations improves our knowledge of them. Whether
that leads to better wisdom, in how we help the individuals, families and commu-
nities harboring them, is, I am convinced, a sincere motivation to pursue the course
undertaken by Professor Teebi and his co-authors. It has indeed yielded this
enhanced second edition of Genetic Disorders among Arab Populations.
Charles R. Scriver MDCM FRS
Alva Professor Emeritus of Human Genetics
Professor of Pediatrics and Biology
McGill University
Montreal, Canada
x Foreword
Contents
Part I Introduction
1 Introduction: Genetic Diversity Among Arabs . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Ahmad S. Teebi
Part II Demography, Economy, and Genetic Services in Arab Countries
2 Arab Demography and Health Provision . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Sulayman S. Al-Qudsi
3 Influences of Systems’ Resources and Health Risk Factors on Genetic
Services . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 65
Amal A. Saadallah and Ahmad S. Teebi
4 Endogamy and Consanguineous Marriage in Arab Populations . . . . . . 85
Alan H. Bittles and Hanan A. Hamamy
Part III Selected Disease Entities Prevalent Among the Arabs
5 Familial Mediterranean Fever and Other Autoinflammatory
Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 111
Hatem El-Shanti and Hasan Abdel Majeed
6 Muscular Dystrophies and Myopathies in Arab Populations . . . . . . . . . 145
Mustafa A.M. Salih
7 New Syndromes First Reported Among Arabs . . . . . . . . . . . . . . . . . . . . . . . . 181
Ahmad S. Teebi
xi
Part IV Genetic disorders in Arab Countries Geographic Regions
8 Genetic Disorders in Egypt . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 219
Samia A. Temtamy, Mona S. Aglan, and Nagwa A. Meguid
9 Genetic Disorders in Ancient Egypt . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 273
Chahira Kozma
10 Genetic Diseases in Iraq . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 297
Hanan Ali Hamamy
11 Genetic Disorders in Jordan . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 325
Majed Dasouki and Hatem El-Shanti
12 Genetic Disorders in Kuwait . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 353
Nawal Makhseed
13 Genetic Disorders in Lebanon . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 377
Vazken M. Der Kaloustian
14 Genetic Disorders in Libya . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 443
Tawfeg Ben-Omran
15 Genetic Disorders in Morocco . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 455
Abdelaziz Sefiani
16 Genetic Disorders in Oman . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 473
Anna Rajab
17 Genetic Disorders Among the Palestinians . . . . . . . . . . . . . . . . . . . . . . . . . . . 491
Bassam Abu-Libdeh and Ahmad Said Teebi
18 Genetic Disorders in Qatar . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 515
Ahmad S. Teebi and Tawfeg Ben-Omran
19 Genetic Disorders in Saudi Arabia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 531
Zuhair N. Al-Hassnan and Nadia Sakati
20 Genetic Disorders in Sudan . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 575
Mustafa A.M. Salih
21 Genetic Disorders in Tunisia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 613
Elham Hassen and Lotfi Chouchane
xii Contents
22 Genetic Disorders in the United Arab Emirates . . . . . . . . . . . . . . . . . . . . . 639
Lihadh Al-Gazali and Bassam R. Ali
23 Genetic Disorders Among Jews from Arab Countries . . . . . . . . . . . . . . . 677
Efrat Dagan and Ruth Gershoni-Baruch
Part V Cultural and Religious Attitudes Towards Genetic Issues
24 Prevention and Care of Genetic Disorders: An Islamic
Perspective . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 705
Aida I. Al Aqeel
25 Genetic Counseling in the Middle East . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 725
Shelley J. Kennedy and Muna Al-Saffar
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 741
Contents xiii
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Contributors
Hasan Abdel Majeed Professor Emeritus of Pediatrics, University of Jordan,
Amman, Jordan
Bassam Abu-Libdeh Makassed Hospital & Al-Quds University, Jerusalem,
Mona S. Aglan Professor of Clinical Genetics, Clinical Genetics Department,
Human Genetics and Genome research division, National Research Centre, Cairo,
Egypt, [email protected]
Aida I. Al Aqeel Pediatrics, Medical Genetics and Endocrinology, Department of
Pediatrics, Riyadh Military Hospital, P. O. Box 7897, Riyadh 11159, Kingdom of
Saudi Arabia, [email protected], [email protected]
Stem Cell Therapy Program, King Faisal Specialist Hospital and Research Centre,
P. O. Box 3354, Riyadh 11211, Kingdom of Saudi Arabia
Lihadh Al-Gazali Department of Paediatrics, Faculty of Medicine and Health
Sciences, UAE University, Al-Ain, United Arab Emirates, [email protected]
Zuhair N. Al-Hassnan Associate Prof. of Genetics, College of Medicine, Alfaisal
University Consultant, Department of Medical Genetics, MBC-75, King Faisal
Specialist Hospital & Research Center, P.O. BOX 3354, Riyadh 11211, Saudi
Arabia, [email protected]
Bassam R. Ali Faculty of Medicine and Health Sciences, Department of
Pathology, UAE University, Al-Ain, United Arab Emirates
Sulayman S. Al-Qudsi Chief Economist and Head of Research Department-Arab
Bank, PLC. Amman-Jordan.Shaker bin Zeid Street, Shmeisani Area, 950545,
Amman, Jordan, [email protected]; [email protected]
Muna Al-Saffar Certified Genetic Counsellor, Children’s Hospital Boston, MA,
USA
xv
Project Manager, Dubai Harvard Foundation for Medical Research (DHFMR),
Dubai Health Care City, Dubai, United Arab Emirates
Tawfeg Ben-Omran Section of Clinical and Metabolic Genetics, Qatar Medical
Genetics Center, HamadMedical Corporation,Doha, Qatar, [email protected]
Alan H. Bittles Centre for Comparative Genomics, Murdoch University, South
Street, Perth, WA 6150, Australia, [email protected]
Lotfi Chouchane Professor of Genetic Medicine and Immunology, Genetic
Medicine Department, Weill Cornell Medical College, Qatar, loc2008@qatar-med.
cornell.edu
Efrat Dagan Institute of Human Genetics, RAMBAM Health Care Campus and
Department of Nursing, University of Haifa, Haifa, Israel
Majed Dasouki Professor of Pediatrics & Internal Medicine University of Kansas,
Kansas City, Kanasa, USA
VazkenM. Der Kaloustian Emeritus Professor of Pediatrics and HumanGenetics,
Mchill University, Montreal, Quebec, Canada, [email protected]
Hatem El-Shanti Director, Shafallah Medical Genetics Center, Doha, Qatar;
Adjunct Associate Professor of Pediatrics, University of Iowa, Iowa City, Iowa,
USA, [email protected]
Ruth Gershoni-Baruch Institute of Human Genetics, RAMBAM Health Care
Campus and the Ruth and Bruce Rappaport Faculty of Medicine, Technion-Insti-
tute of Technology, Haifa, Israel, [email protected]
Hanan A. Hamamy Department of Genetic Medicine and Development, Geneva
University Hospital, Geneva, Switzerland (formely Al-Mustansiriyah Medical
College, Baghdad, Iraq), [email protected]
Elham Hassen Molecular Immuno-Oncology Laboratory, Faculty of Medicine,
Monastir, Tunisia, [email protected]
Shelley J. Kennedy Certified Genetic Counsellor, Ontario Newborn Screening
Program & Regional Genetics Program, Children’s Hospital of Eastern Ontario,
Ottawa, ON, Canada, [email protected]
Chahira Kozma Department of Pediatrics, Georgetown University Hospital, 3800
Reservoir Rd N.W., Washington DC, USA, [email protected]; cck2@
gunet.georgetown.edu
Nawal Makhseed Department of Pediatrics, Jahra Hospital, Ministry of Health,
Kuwait, [email protected]
Samia A. Temtamy Professor of Human Genetics, Clinical Genetics Department,
Human Genetics and Genome, research division, National Research Centre, Cairo,
Egypt, [email protected]
xvi Contributors
Anna Rajab Consultant Clinical Geneticist, Genetic Unit, Ministry of Health,
Sultanate of Oman, [email protected]
Amal A. Saadallah Medical College, Ain Shams University, Cairo, Egypt,
Nadia Sakati Consultant, Department of Pediatrics, MBC-58, King Faisal
Specialist Hospital & Research Center, P.O. BOX 3354, Riyadh 11211, Saudi
Arabia
Mustafa A.M. Salih Division of Pediatric Neurology, Department of Pediatrics,
College of Medicine, King Saud University, Riyadh, Saudi Arabia, mustafa_salih05
@yahoo.com; [email protected]
Abdelaziz Sefiani Department of Medical Genetics, National Institute of Heath/
University Mohammed V Souissi, Rabat 27, Avenue Ibn Batouta, BP 769, 11400,
Rabat, Morocco, [email protected]
Ahmad S. Teebi Weill Cornell Medical College, Qatar Foundation, Doha, Qatar,
Samia A. Temtamy Professor of Human Genetics, Clinical Genetics Department,
Human Genetics and Genome research division, National Research Centre, Cairo,
Egypt, [email protected]
Nagwa A. Meguid Profssor of Human Genetics, National Research Centre, Tahrir
street Dokki, Giza, Egypt, [email protected]
Contributors xvii
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