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Hemoglobinopathies in Iran : molecular spectrum, prevention and treatment.

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Hemoglobinopathies in Iran : molecular spectrum, prevention and

treatment.

Yavarian, M.

Citation

Yavarian, M. (2005, January 26). Hemoglobinopathies in Iran : molecular spectrum,

prevention and treatment. Retrieved from https://hdl.handle.net/1887/3728

Version:

Corrected Publisher’s Version

License:

Licence agreement concerning inclusion of doctoral thesis in the

Institutional Repository of the University of Leiden

Downloaded from:

https://hdl.handle.net/1887/3728

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To my wife, Rogaye

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ter verkrijging van de graad van Doctor

aan de Universiteit Leiden,

op gezag van de Rector Magnificus Dr. D. D. Breimer,

hoogleraar in de faculteit der Wiskunde en

Natuurwetenschappen en die der Geneeskunde,

volgens besluit van het College voor Promoties

te verdedigen op woensdag 26 januari 2005

te klokke 15.15 uur

door

Majid Yavarian

geboren te Ardebil (Iran)

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Promotor:

Prof. Dr. E. Bakker

Co-promotor:

Dr. P.C. Giordano

Referent:

Prof. Dr. L.F. Bernini

Overige leden:

Prof. Dr. A. Brand

Prof. Dr. M. Breuning

Prof. Dr. M. Cappellini, Universita degli studi, Milano

Prof. Dr. J.P.M. Geraedts, Universiteit Maastricht

Prof. Dr. G. J.B. van Ommen

Dr. C.L. Harteveld

ISBN 90-9018926- 2

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&KDSWHUV 7LWOH       3DJHQU Summary: The aim of this thesis 1 Chapter I: The origin of the Iranian ethnicities 3

Modern Iran at a glance 11 Chapter II: Hemoglobin, hemoglobin genes, gene products,

Malaria and Hemoglobinopathies 13 Chapter III: Hemoglobinopathies, the abnormal hemoglobins

in general and in the Iranian population 21 Chapter IV: Hemoglobinopathies, thalassemias in general and in the

Iranian populations. 39 Chapter V: Hemoglobinopathies and therapy 63 Chapter VI: Prevention in Iran and the “Hormozgan experience” 79 Chapter VII: Laboratory strategies for carrier diagnostics and

prevention 89

Chapter VIII: Publications related to the issues 105 Publication 1: The spectrum of E-thalassemia mutations in the Iranian

Province of Hormozgan.

Publication 2: Molecular spectrum of D-thalassemia in Iranian

population of Hormozgan: Three novel point mutation defects. Publication 3: The molecular basis of HbH disease in south-west Iran.

Publication 4: Response to Hydroxyurea treatment in Iranian transfusion-dependent E-thalassemia.

Publication 5: Survival analysis of transfusion dependent E-thalassemia major patients in the Iranian province of Hormozgan. Publication 6 Spectrum and haplotypes of the HFE hemochromatosis gene

in Iran. H63D in E-thalassemia major and the first E277K homozygous.

Publication 7: Prevalence of G6PD deficiency in male population of Hormozgan province.

Addendum: Information to the public in Dutch, English and Farsi for Iran and Iranians in The Netherlands

Samenvatting: Het doel van dit proefschrift Curriculum vitae

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In absence of direct DNA sequencing DGGE is the most sensible method to detect -thalassemia mutations in multiethnic areas where a broad spectrum of mutations occurs

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Hoofdstuk VI behandelt de primaire preventie in Iran zoals deze in het laatste decennium vorm heeft gekregen, zoals tot op heden wordt geïmplementeerd, en zoals in

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden Downloaded from: https://hdl.handle.net/1887/3728.

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Deze mensen kunnen dragers zijn van deze erfelijke eigenschappen, die in sommige gevallen tot ernstige vormen van erfelijke bloedarmoede, zoals thalassemie major en

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In conclusion this thesis offers a number of data that may be useful in management and prevention of Hemoglobinopathy in Iran and for Iranians living abroad. Most