Rare red blood cell abnormalities van Zwieten, R.

279 Pages·2017·37.64 MB·English

UvA-DARE (Digital Academic Repository)
Rare red blood cell abnormalities
van Zwieten, R.
Publication date
2015
Document Version
Final published version
Link to publication
Citation for published version (APA):
van Zwieten, R. (2015). Rare red blood cell abnormalities. [Thesis, externally prepared,
Universiteit van Amsterdam]. Boxpress.
General rights
It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s)
and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open
content license (like Creative Commons).
Disclaimer/Complaints regulations
If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please
let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material
inaccessible and/or remove it from the website. Please Ask the Library: https://uba.uva.nl/en/contact, or a letter
to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You
will be contacted as soon as possible.
UvA-DARE is a service provided by the library of the University of Amsterdam (https://dare.uva.nl)
Download date:23 Feb 2023
R
a
r
e

R
e
d
Rob van Zwieten

B
l
o
o
d

C Rare Red Blood Cell Abnormalities
e
l
l

A
b
n
o
r
m
a
l
i
t
i
e
s

T
h
e
s
i
s

R
.

v
a
n

Z
w
i
e
t
e
n

2
0
1
5
RARE RED BLOOD CELL ABNORMALITIES
Rob van Zwieten
2015
The research described in this thesis was mainly performed in the Department of Blood Cell
Research and in the laboratory for diagnosing red blood cell disorders at Sanquin Research and
Landsteiner Laboratory, Amsterdam Medical Center, University of Amsterdam, The
Netherlands.
The cover illustration is based on a pelican woodcut (1973) from Jacques Hnizdovsky
Printed by: Proefschriftmaken.nl
Published by: Uitgeverij BOXPress, ‘s‐Hertochenbosch
ISBN: 978‐94‐6295‐161‐7
©2015, R. van Zwieten
Printing of this thesis and additional costs were generously supported by:
Sanquin Diagnostic Services
University of Amsterdam
Sebia Benelux GCV
R&R Mechatronics International B.V.
Inacom Instruments B.V.
RARE RED BLOOD CELL ABNORMALITIES
ACADEMISCH PROEFSCHRIFT
ter verkrijging van de graad van doctor
aan de Universiteit van Amsterdam
op gezag van de Rector Magnificus
Prof. dr. D.C van den Boom
ten overstaan van een door het College voor Promoties ingestelde
commissie, in het openbaar te verdedigen in de Agnietenkapel op
vrijdag 5 juni 2015, te 12.00 uur
door
Robert van Zwieten
geboren te Oostzaan
Promotiecommissie:

Promotor: Prof. dr. A.J. Verhoeven
Copromotores: Prof. dr. D. Roos
Dr. R. van Wijk
Dr. R. van Bruggen

Overige leden: Prof. dr. P.L. Hordijk
Prof. dr. C.E. van der Schoot
Prof. dr. W.W. van Solinge
Dr. M. Peters
Dr. C.L. Harteveld

Faculteit der Geneeskunde
Voor
Hugo en Simon
Table of contents

blz
Chapter 1 General introduction 9

Chapter 2 Hemoglobinopathies

2.1 Introduction 23

2.2 A Dutch Family with Hb Atlanta [β75 (E19) Leu→Pro] 31

2.3 Hb Nile[A1] and Hb Nile[A2]: Novel Identical 39
[α77 (EF6)Pro→Ser] Variants Found in Either the α1‐ or
α2‐ Globin Genes

2.4 Hemoglobin Analyses in The Netherlands Reveal More 49
Than 80 Different Variants, Including Six Novel Ones

2.5 Two Novel Hemoglobin Variants that Affect Hemoglobin A1c 71
Measurement by Ion‐Exchange Chromatography

2.6 A Genomic Region on Chromosome 19 Containing a Sequence 85
Variant of the ASF1B Gene is Associated with Persistent Fetal
Hemoglobin Production in Adults

Chapter 3 Red blood cell enzyme deficiencies

3.1 Introduction 109

3.2 Molecular Basis and Enzymatic Properties of Glucose 6‐Phosphate 113
Dehydrogenase Volendam, Leading to Chronic Nonspherocytic
Anemia, Granulocyte Dysfunction, and Increased Susceptibility
to Infections
3.3 Molecular Basis of Glutathione Reductase Deficiency 131
in Human Blood Cells

3.4 Inborn Defects in the Anti‐Oxidant Systems of 149
Human Red Blood Cell

Chapter 4 Membrane abnormalities

4.1 Introduction 179

4.2 Hereditary Spherocytosis with Normal Red Cell Spectrin 185
and Reduced EMA Binding is Predominantly Caused by
Mutations in Band 3

4.3 Partial Pyruvate Kinase Deficiency Aggravates the 203
Phenotypic Expression of Band 3 Deficiency in a Family
with Hereditary Spherocytosis

4.4 The Cholesterol Content of the Erythrocyte Membrane 217
is an Important Determinant of Phosphatidylserine Exposure

Chapter 5

5.1.I Summary and general discussion 241

5.1.II Samenvatting en discussie 251

5.2 Tenslotte 263

5.3 Curriculum vitae 271

5.4 List of publications 272