Annual Report 2012 - SWG Red Cells and Iron - European ...

EHA Scientific Working Groups – Red Cells and Iron
Annual Report
Chair: June 2011 to present – Professor Swee Lay Thein (King’s College London,
UK)
Objectives:
To highlight areas of research and scientific breakthroughs in red blood
haematology and iron that have not been a focus of attention in any other part of
the EHA meeting. Topics are selected after consultation with members of the
group and any other persons with a special interest in red blood cell haematology.
Frequency of meetings:
The SWG meets once a year, at the annual EHA Congress on the Thursday
evening prior to the start of the main Congress. It is usually followed by an
informal evening meal at one of the local restaurants by those who can attend.
Programme for 2012: Thursday 14 June 2012, 18.00-20.00 – Room D202
Chair: S L Thein
18:00 GDF15 and regulation of iron / hepcidin
Martina Muckenthaler (University Hospital of Heidelberg, Germany)
18:40 Adhesion of red blood cells and vaso-occlusive crises in sickle cell
disease
Caroline Le Van Kim (Inserm U665, Université Paris, France)
19:20 Modern management of paroxysmal nocturnal haemoglobinuria
Dupe Elebute (King’s College Hospital NHS Foundation Trust, London,
UK)
19:55 Conclusions
Attendance – The estimated number of attendees was 69 (see attached with
emails). There was much discussion and also suggestions for topics for 2012 SWG
meetings.
Programme for 2013:
1. Dr Stephan Menzel (Molecular haematology, King's College London School of
Medicine, London, UK)
Cellular phenomena of fetal haemoglobin persistence in adults
2. Professor Achille Iolascon (Professor of Medical Genetics, Department of
Biochemistry and Medical Biotechnologies, University Federico II of Naples)
Dehydrated hereditary stomatocytosis
3. Professor Lucia de Fransceschi (Associated Professor of Internal Medicine,
Department of Medicine, University of Verona, Italy)
Resveratrol and pathological erythropoiesis
4. Dr Momin Ahmed (Department of Haematological Medicine, King's College
London, London, UK)
Update on Genetics of Congenital Dyserythropoietic Anaemias
Associated meetings:
The SWG is already affiliated with the ESH and also ENERCA (European Network
for Rare and Congenital Anaemias) with a large number of members involved in

the scientific workshops on ‘Innovative therapies for red cell and iron-related
disorders’ held in Cascais, Portugal (16-18 April 2010), as well as ESH-ENERCA
Haemoglobin Disorders Conference (Brussels, Belgium, 1-2 April 2011)
We plan to have another SWG workshop in 2014; the program is being discussed.
Several members are also involved in EU-FP7 THALAMOSS grant – Co-ordinator
Professor Roberto Gambari, in Ferrara Italy
Publications from 2011
Boursier G, Trouillier S, Giansily Blaizot P, Igual H, Schved JF and Aguilar
Martinez P. A new high oxygen affinity variant (Hb Aurillac) [β141Leu>Val (HBB:
c.424C>G)], one of the two mutations contained in Hb Kochi, reveals clinical
significance. Hemoglobin, in press
Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P.
Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the
hereditary hyperferritinemia-cataract syndrome and its impact on the
phenotype. Haematologica. 2013 Jan 8. [Epub ahead of print].
Du Thanh A, Aguilar-Martinez P, Enescu C, Cunat S, Guillot S, Dereure O.
Porphyria Cutanea Tarda and Spherocytosis: A Non-random Association? Acta
Derm Venereol, 2012, Oct 24.
Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P.
Characterization of three new deletions in the β-globin gene cluster during a
screening survey in two French urban areas. Clin Chim Acta. 2013 Jan
16;415:35-40. [Epub 2012 Sep 7]
Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B,
Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B,
Nicolas G. Inactive matriptase-2 mutants found in IRIDA patients still repress
hepcidin in a transfection assay despite having lost their serine protease
activity. Hum Mutat. 2012; 33(9):1388-96.
Flatt J, Guizouarn H, Burton NM, Borgese F, Tomlinson RJ, Forsyth RJ, Baldwin
SA, Levinson BE, Quittet P, Aguilar-Martinez P, Delaunay J, Stewart JW and
Bruce LJ. Stomatin-deficient cryohydrocytosis results from mutations in
SLC2A1 : a novel form of glut1 deficiency syndrome. Blood 2011, 118(19) :
5267-5277.
Aguilar Martinez P, Grandchamp B, Cunat S, Cadet E, Blanc F, Nourrit M,
Schved JF and Rochette J. Iron overload in C282Y Heterozygotes at first genetic
testing : a step strategy for identifying new rare HFE variants. Haematologica.
2011, 96(4):507-14.
Du Thanh A, Martinez P, Cunat S, Bessis D, Guillot B, Dereure O.Absence of
Functional Mutations in the Ferroportin-encoding SLC40A1 Gene in Porphyria
Cutanea Tarda : A Series of 37 Cases from Southern France. Acta Derm
Venereol, 2011, 91: 467, May 24.
Du-Thanh A, Aguilar-Martinez P, Cunat S, Bessis D, Guillot B, Dereure O.
Hemojuvelin and Hepcidin Gene Mutations in Patients with Porphyria Cutanea
Tarda from Southern France. Acta Derm Venereol. 2011, 91(1):66-7.[Epub
ahead of print 2010 Nov 19]
Beaumont, C (Downloaded from PubMed)
Beaumont C, Karim Z. [Iron metabolism: State of the art]. Rev Med Interne.
2013; 34:17-25. PMID: 22595534
Arlet JB, Pouchot J, Lasocki S, Beaumont C, Hermine O. [Iron therapy:
Indications, limitations and modality]. Rev Med Interne. 2013; 34:26-31. PMID:
22621856

Guillem F, Kannengiesser C, Oudin C, et al. Inactive matriptase-2 mutants found
in IRIDA patients still repress hepcidin in a transfection assay despite having lost
their serine protease activity. Hum Mutat. 2012; 33:1388-1396. PMID: 22581667
Thurlow V, Vadher B, Bomford A, et al. Two novel mutations in the L ferritin
coding sequence associated with benign hyperferritinaemia unmasked by
glycosylated ferritin assay. Ann Clin Biochem. 2012; 49:302-305. PMID:
22535864
Papillard-Marechal S, Sznajder M, Hurtado-Nedelec M, et al. Iron metabolism in
patients with anorexia nervosa: elevated serum hepcidin concentrations in the
absence of inflammation. Am J Clin Nutr. 2012; 95:548-554. PMID: 22301927
de Montalembert M, Bresson JL, Brouzes C, Ruemmele FM, Puy H, Beaumont C.
[Diagnosis of hypochromic microcytic anemia in children]. Arch Pediatr. 2012;
19:295-304. PMID: 22310020
Delaby C, Beaumont C. [Serum hepcidin assay in 2011: where do we stand?].
Ann Biol Clin (Paris). 2012; 70:377-386. PMID: 22796609
Heming N, Letteron P, Driss F, et al. Efficacy and toxicity of intravenous iron in a
mouse model of critical care anemia*. Crit Care Med. 2012; 40:2141-2148.
PMID: 22564959
Campuzano I, Bush MF, Robinson CV, et al. Structural characterization of druglike
compounds by ion mobility mass spectrometry: comparison of theoretical and
experimentally derived nitrogen collision cross sections. Anal Chem. 2012;
84:1026-1033. PMID: 22141445
Gay J, Fournier M, Pierre-Eugene C, et al. New variant of unclassified congenital
dyserythropoietic anaemia: the concept of the erythroid regulator? Br J Haematol.
2012; 157:148-151. PMID: 22077468
Beaumont C. Can erythroblasts donate iron? Blood. 2011; 118:2649-2651.
PMID: 21903903
Lyoumi S, Abitbol M, Rainteau D, et al. Protoporphyrin retention in hepatocytes
and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria
mouse model. Gastroenterology. 2011; 141:1509-1519, 1519 e1501-1503.
PMID: 21762662
Piednoir P, Allou N, Driss F, et al. Preoperative iron deficiency increases
transfusion requirements and fatigue in cardiac surgery patients: a prospective
observational study. Eur J Anaesthesiol. 2011; 28:796-801. PMID: 21885979
Picard E, Ranchon-Cole I, Jonet L, et al. Light-induced retinal degeneration
correlates with changes in iron metabolism gene expression, ferritin level, and
aging. Invest Ophthalmol Vis Sci. 2011; 52:1261-1274. PMID: 20881284
Lasocki S, Longrois D, Montravers P, Beaumont C. Hepcidin and anemia of the
critically ill patient: bench to bedside. Anesthesiology. 2011; 114:688-694.
PMID: 21258235
Ducamp S, Kannengiesser C, Touati M, et al. Sideroblastic anemia: molecular
analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10
missense mutations. Hum Mutat. 2011; 32:590-597. PMID: 21309041
Kannengiesser C, Sanchez M, Sweeney M, et al. Missense SLC25A38 variations
play an important role in autosomal recessive inherited sideroblastic anemia.
Haematologica. 2011; 96:808-813. PMID: 21393332
Nicolas G, Deschemin JC, Ramsay AJ, et al. Is EPO therapy able to correct iron
deficiency anaemia caused by matriptase-2 deficiency? Br J Haematol. 2011;
152:498-500. PMID: 21223251
Grandchamp B, Hetet G, Kannengiesser C, et al. A novel type of congenital
hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6
gene. Blood. 2011; 118:6660-6666. PMID: 22031863

To-Figueras J, Ducamp S, Clayton J, et al. ALAS2 acts as a modifier gene in
patients with congenital erythropoietic porphyria. Blood. 2011; 118:1443-1451.
PMID: 21653323
Brasse-Lagnel C, Karim Z, Letteron P, Bekri S, Bado A, Beaumont C. Intestinal
DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization
and degradation. Gastroenterology. 2011; 140:1261-1271 e1261. PMID:
21199652
Jeong SY, Crooks DR, Wilson-Ollivierre H, et al. Iron insufficiency compromises
motor neurons and their mitochondrial function in Irp2-null mice. PLoS One.
2011; 6:e25404. PMID: 22003390
Camaschella, C
(selected publications within the SWG 2011-2012)
De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon
A, Gouya L, Camaschella C, Beaumont C. Iron Refractory Iron Deficiency
Anemia: a review. Haematologica (under revision).
De Falco L, Bruno M, Andolfo I, David BP, Girelli D, Di Noce F, Camaschella C,
Iolascon A. Identification and characterization of the first SLC11A2 isoform 1a
mutation causing a defect in splicing process and an hypomorphic allele
expression of the SLC11A2 gene. Br J Haematol. 2012 Nov;159(4):492-5.
De Franceschi L, Bertoldi M, De Falco L, Santos Franco S, Ronzoni L, Turrini F,
Colancecco A, Camaschella C, Cappellini MD, Iolascon A. Oxidative stress
modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective
response in β-thalassemic erythropoiesis. Haematologica. 2011
Nov;96(11):1595-604.
Cappellini, (Downloaded from internet)
How I treat transfusional iron overload. Hoffbrand AV, Taher A, Cappellini MD.
Blood. 2012 Aug 23. (Epub ahead of print)
An update on iron chelation therapy. Poggiali E, Cassinerio E, Zanaboni L,
Cappellini MD. Blood Transfus. 2012 Jun 27:1-12.
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter
of HMBS gene responsible for the non-erythroid form of acute intermittent
porphyria. Brancaleoni V, Granata F, Colancecco A, Tavazzi D, Cappellini MD, Di
Pierro E. Blood Cells Mol Dis. 2012 Jun 29
Characteristics of type I Gaucher disease associated with persistent
thrombocytopenia after treatment with imiglucerase for 4-5 years. Hollak CE,
Belmatoug N, Cole JA, Vom Dahl S, Deegan PB, Goldblatt J, Rosenbloom B, van
Dussen L, Tylki-Szymańska A, Weinreb NJ, Zimran A, Cappellini MD. Br J
Haematol. 2012 Aug;158(4):528-38.
Contemporary approaches to treatment of beta-thalassemia intermedia. Taher
AT, Musallam KM, Karimi M, Cappellini MD. Blood Rev. 2012 Apr;26 Suppl
1:S24-7.
Deferasirox reduces iron overload significantly in nontransfusion-dependent
thalassemia: 1-year results from a prospective, randomized, double-blind,
placebo-controlled study. Taher AT, Porter J, Viprakasit V, Kattamis A,
Chuncharunee S, Sutcharitchan P, Siritanaratkul N, Galanello R, Karakas Z,
Lawniczek T, Ros J, Zhang Y, Habr D, Cappellini MD. Blood. 2012 Aug
2;120(5):970-7. 2 -
Cardiac iron removal and functional cardiac improvement by different iron
chelation regimens in thalassemia major patients.Cassinerio E, Roghi A, Pedrotti

P, Brevi F, Zanaboni L, Graziadei G, Pattoneri P, Milazzo A, Cappellini MD.Ann
Hematol. 2012 Sep;91(9):1443-9.
Deferasirox for up to 3 years leads to continued improvement of myocardial T2*
in patients with β-thalassemia major.Pennell DJ, Porter JB, Cappellini MD, Chan
LL, El-Beshlawy A, Aydinok Y, Ibrahim H, Li CK, Viprakasit V, Elalfy MS, Kattamis
A, Smith G, Habr D, Domokos G, Roubert B, Taher A.Haematologica. 2012
Jun;97(6):842-8.
Fetal hemoglobin levels and morbidity in untransfused patients with βthalassemia
intermedia. Musallam KM, Sankaran VG, Cappellini MD, Duca L,
Nathan DG, Taher AT.Blood. 2012 Jan 12;119(2):364-7.
Does absolute excess of alpha chains compromise the benefit of splenectomy in
patients with thalassemia intermedia? Graziadei G, Refaldi C, Barcellini W,
Cesaretti C, Cassinero E, Musallam KM, Cappellini MD. Haematologica. 2012
Jan;97(1):151-3
Hepcidin levels and their determinants in different types of myelodysplastic
syndromes. Santini V, Girelli D, Sanna A, Martinelli N, Duca L, Campostrini N,
Cortelezzi A, Corbella M, Bosi A, Reda G, Olivieri O, Cappellini MD. PLoS One.
2011;6(8):e23109
Elevated liver iron concentration is a marker of increased morbidity in patients
with β thalassemia intermedia.Musallam KM, Cappellini MD, Wood JC, Motta I,
Graziadei G, Tamim H, Taher AT.Haematologica. 2011 Nov;96(11):1605-12
Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a
novel cytoprotective response in β-thalassemic erythropoiesis.De Franceschi L,
Bertoldi M, De Falco L, Santos Franco S, Ronzoni L, Turrini F, Colancecco A,
Camaschella C, Cappellini MD, Iolascon A. Haematologica. 2011
Nov;96(11):1595-604
Improvement in liver pathology of patients with β-thalassemia treated with
deferasirox for at least 3 years. Deugnier Y, Turlin B, Ropert M, Cappellini MD,
Porter JB, Giannone V, Zhang Y, Griffel L, Brissot P.Gastroenterology. 2011
Oct;141(4):1202-11,
Iron chelation with deferasirox in adult and pediatric patients with thalassemia
major: efficacy and safety during 5 years' follow-up. Cappellini MD, Bejaoui M,
Agaoglu L, Canatan D, Capra M, Cohen A, Drelichman G, Economou M, Fattoum
S, Kattamis A, Kilinc Y, Perrotta S, Piga A, Porter JB, Griffel L, Dong V, Clark J,
Aydinok Y.Blood. 2011 Jul 28;118(4):884-93
de Montalembert, M
De Montalembert M, Wang W. Cerebrovascular Complications in Children with
Sickle Cell Disease; In Olivier Dulac ed” Handbook of Paediatric Neurology”
Elsievier in Press.
Arlet JB, Courbebaisse M, Chatellier G, Eladari D, Souberbielle JC, Friedlander G,
de Montalembert M, Prié D, Pouchot J, Ribeil JA. between vitamin D deficiency
and bone fragility in sickle cell disease: A cohort study of 56 adults. Bone.
2012;52 :206-211
Brousse V, Ghandi S, de Montalembert M, Height S, Dick MC, O’Driscoll A,
Abishera G, Rees D. Combined blood transfusion and hydroxycarbamide in
children with sickle cell anaemia. BJH 2012; doi:10.111/bjh12104
Robert MP, Ingster-Moati I, Roche O, Boddaert N, de Montalembert M, Brousse
V, Kossorotoff M, Dufier JL, Faure C. Asymptomatic atrophy of the temporal
median raphe of the retina associated with cerebral vasculopathy in homozygous
sickle cell disease. J AAPOS 2012;16:394-7
Arlet JB, Ribeil JA, Chatellier G, ELardi D, De Saingeux S, Souberbielle JC,
Friedlander G, De Montalembert M, Pochot J, Prié D, Courbebaisse M.

Determination of the best method to estimate glomerular filtration rate from
seruml creatinine in adult patients with sickle cell disease: a prospective
observational cohort study. BMC Nephrol 2012;13:83
De Montalembert. To SWiTCH or not to SWiTCH? Blood 2012;119:3870-1.
-Blanc J, Stos B; de Montalembert M, Bonnet D, Boudjemeline Y. Right
ventricular systolic strain in children with sickle cell disease. J Am Soc
Echocardiogr 2012; 25:511-7.
Brousse V, Elie C, Benkerrou M, Odievre MO, Lesprit E, Bernaudin F, Grimaud M,
Guitton C, Quinet B, Dangiolo S, De Montalembert M. Acute splenic
sequestration in sickle cell disease children: updated lessons from a cohort of 190
children. Br J Haematol 2012; 156:643-8.
Coignard-Biehler H, Lanternier F, Hot A, Salmon D, Berger A, de Montalembert
M, Suarez F, Launay O, Lecuit M, Lortholary O. Adherence to preventive
measures after splenectomy in the hospital setting and in the community. J Infect
Public Health.
2011;44:187-94.
De Montalembert M, Dumont MD, Heilbronner C, Brousse V, Charrara O,
Pellegrino P, Piguet C, Soussan V, Noizat-Pirenne F. Delayed Haemolytic
transfusion reaction in children with sickle cell disease. Haematologica, 2011;96:
801-7.
De Montalembert M, Ferster A, Colombatti R, Rees DC, Gulbis B, on behalf of
the European Network For Rare And Congenital Anaemias. ENERCA clinical
recommendations for disease management and prevention of complications of
sickle cell disease in children. Am J 2011; 86: 72-5.
Di Marco V, Capra M, Angelucci E, Borgna-Pignatti C, Telfer P, Harmatz P,
Kattamis A, Prossamariti L, Filosa A, Rund D, Gamberini MR, Cianciulli P, De
Montalembert M, Gagliardotto F, Foster G, Grangè JD, Cassarà F, Iacono A,
Cappellini MD, Brittenham GM, Prati D, Pietrangelo A, Craxi A, Maggio A.
Management of chronic viral hepatitis in patients with thalassemia: an
international panel's recommendations. Blood,
116(16):2875-83.
Le Van Kim, C
Franco M, Collec E, Connes P, van den Akker E, Billette de Villemeur T, Belmatoug
N, von Lindern M, Ameziane N, Hermine O, Colin Y, Le Van Kim C*, Mignot C*:
Abnormal properties of red blood cells suggest a role in the pathophysiology of
Gaucher disease. Blood, 2012 Dec 3. [Epub ahead of print].
De Grandis M, Cambot M, Wautier MP, Cassinat B, Chomienne C, Colin Y, Wautier
JL, Le Van Kim C, El Nemer W Jak2V617F activates Lu/BCAM-mediated red cell
adhesion in polycythemia vera through an EpoR-independent Rap1/Akt pathway.
Blood, 2012 Nov 16. [Epub ahead of print].
Picot J, Guerin CL, Le Van Kim C, and Boulanger CM Flow cytometry:
retrospective, fundamentals and recent instrumentation. Cytotechnology, 2012
64:109-130
Collec E, Lecomte MC, El Nemer W, Colin Y, and Le Van Kim C Novel role for the
Lu/BCAM-spectrin interaction in actin cytoskeleton reorganization. Biochem. J.,
2011 436:699-708.
Team of Le Van Kim, C
Brousse V, Elie C, Benkerrou M, Odièvre MH, Lesprit E, Bernaudin F, Grimaud M,
Guitton C, Quinet B, Dangiolo S, de Montalembert M. Acute splenic sequestration
crisis in sickle cell disease: Cohort study of 190 paediatric patients. Br J Haematol
156:643-8, 2012.

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complete terminal maturation: in vivo and in vitro evidence in the erythropoietic
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Genetet S, Ripoche P, Picot J, Bigot S, Delaunay J, Armari-Alla C, Colin Y, and
Mouro-Chanteloup I.
Human RhAG ammonia channel is impaired by the Phe65Ser
mutation in overhydrated stomatocytic red cells. Am J Physiol Cell Physiol 302:
C419-428, 2012.
Grodecka M, Bertrand O,
Karolak E, Lisowski M, Waśniowska K. One-step
immunopurification and lectinochemical characterization of the Duffy atypical
chemokine receptor from human erythrocytes. Glycoconj J. 2012;29:93-105.
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Lamarre Y, Petres S, Hardy-Dessources MD, Sinnapah S, Romana M, Laurance S,
Lemonne N, Gysin J, Connes P. Abnormal flow adhesion of sickle red blood cells
to both human placental trophoblast and extracellular matrix. Clin Hemorheol
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Lamarre Y, Romana M, Waltz X, Lalanne-Mistrih ML, Tressieres B, Divialle-
Doumdo L, Hardy-Dessources MD, Vent-Schmidt J, Petras M, Broquere C, Maillard
F, Tarer V, Etienne-Julan M, Connes P. Hemorheological risk factors of acute chest
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Machnicka B, Grochowalska R, Boguslawska DM, Sikorski AF, and Lecomte MC.
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Warfarin pharmacogenetics: polymorphisms
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Pichon A, Connes P, Quidu P, Marchant D, Brunet J, Levy BI, Vilar J, Safeukui I,
Cymbalista F, Maignan M, Richalet JP, Favret F. Acetazolamide and chronic
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Picot J, Guerin CL, Le Van Kim C, and Boulanger CM. Flow cytometry:
retrospective, fundamentals and recent instrumentation. Cytotechnology 64: 109-
130, 2012 (review).
Smolarek D, Bertrand O,
Czerwinski M. Variable fragments of heavy chain
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resetting PLOS Pathogens;8:e1002781,2012
Waltz X, Hedreville M, Sinnapah S, Lamarre Y, Soter V, Lemonne N, Etienne-Julan
M, Beltan E, Chalabi T, Chout R, Hue O, Mougenel D, Hardy-Dessources MD,
Connes P. Delayed beneficial effect of acute exercise on red blood cell aggregate
strength in patients with sickle cell anemia. Clin Hemorheol Microcirc 2012,
52:15-26.
Chaar V, Romana M, Tripette J, Broquere C, Huisse MG, Hue O, Hardy-Dessources
MD, Connes P. Effect of strenuous physical exercise on circulating cell-derived
microparticles. Clin Hemorheol Microcirc 47: 15-25, 2011.
Collec E, Lecomte MC, El Nemer W, Colin Y, and Le Van Kim C.
Novel role for the
Lu/BCAM-spectrin interaction in actin cytoskeleton reorganization. Biochem J 436:
699-708, 2011.
Darghouth D, Koehl B, Madalinski G, Heilier JF, Bovee P, Xu Y, Olivier MF,
Bartolucci P, Benkerrou M, Pissard S, Colin Y,
Galacteros F, Bosman G, Junot C,
and Romeo PH. Pathophysiology of sickle cell disease is mirrored by the red blood
cell metabolome. Blood 117: e57-66, 2011.
Durpes MC, Hardy-Dessources MD, El Nemer W, Picot J,
Lemonne N, Elion J,
Decastel M. Activation state of alpha4beta1 integrin on sickle red blood cells is
linked to the duffy antigen receptor for chemokines (DARC) expression. J Biol
Chem 286: 3057-3064, 2011.
Russell B, Suwanarusk R, Borlon C, Costa FT, Chu CS, Rijken MJ, Sriprawat K,
Warter L, Koh EG, Malleret B, Colin Y, Bertrand O, Adams JH, D'Alessandro U,
Snounou G, Nosten F, and Renia L. A reliable ex vivo invasion assay of human
reticulocytes by Plasmodium vivax. Blood 118: e74-81, 2011.
Wautier JL, and Wautier MP. Molecular basis of red blood cell adhesion to
endothelium. Ann Pharm Fr 69: 3-6, 2011 (review).
Wautier MP, Heron E, Picot J, Colin Y, Hermine O, and Wautier JL. Red blood cell
phosphatidylserine exposure is responsible for increased erythrocyte adhesion to
endothelium in central retinal vein occlusion. J Thromb Haemost 9: 1049-1055,
2011.
Rees, D (2012 only)
Benton CM, Couchman L, Marsden JT, Rees DC, Moniz C, Lim CK. Direct and
simultaneous determination of 5-aminolaevulinic acid and porphobilinogen in
urine by hydrophilic interaction liquid chromatography-electrospray
ionisation/tandem mass spectrometry. Biomed Chromatogr. 2012 Jun 27.
Benton CM, Couchman L, Marsden JT, Rees DC, Moniz C, Lim CK. Direct and
simultaneous quantitation of 5-aminolaevulinic acid and porphobilinogen in
human serum or plasma by hydrophilic interaction liquid chromatography-

atmospheric pressure chemical ionization/tandem mass spectrometry. Biomed
Chromatogr. 2012 Nov 26.
Brousse V, Gandhi S, de Montalembert M, Height S, Dick MC, O'Driscoll S,
Abishera G, Rees DC. Combined blood transfusion and hydroxycarbamide in
children with sickle cell anaemia. Br J Haematol. 2012 Nov 1.
Cherry M, Greenhalgh J, Osipenko L, Venkatachalam M, Boland A, Dundar Y,
Marsh K, Dickson R, Rees D. The clinical effectiveness and cost-effectiveness of
primary stroke prevention in children with sickle cell disease: a systematic review
and economic evaluation. Health Technol Assess. 2012;16(43):1-129.
Ma YL, Rees DC, Gibson JS, Ellory JC. The conductance of red blood cells from
sickle cell patients: ion selectivity and inhibitors. J Physiol. 2012 May 1;590(Pt
9):2095-105
Rees DC, Gibson J. Biomarkers in sickle cell disease. Br J Haematol. 2012;
156:433-45.
Stein PE, Badminton MN, Barth JH, Rees DC, Sarkany R, Stewart MF, Cox TM.
Acute intermittent porphyria: fatal complications of treatment. Clinical Medicine
2012; 12: 293-4.
Ribeiro, M. L.
Bento, C., Maia, T. M., Milosevic, J. D., Carreira, I. M., Kralovics, R., & Ribeiro,
M. L. (2013). Beta thalassemia major due to acquired uniparental disomy in a
previously healthy adolescent. Haematologica. 98(1),4-6.
Bento C, Magalhães Maia T, Carvalhais I, Moita F, Abreu G, Relvas L, P. A., &
Farela Neves J, Ribeiro ML (2013). Transient Neonatal Cyanosis Associated With
a New Hb F Variant: Hb F Viseu. J Pediatr Hematol Oncol. Mar;35(2):e77-80
Cunha, E., Bento, C., Oliveira, A., Relvas, L., Neves, J., Gameiro, M., Barros, C.,
Araujo, A., Macedo, A., Rocha, P., Costa, R., Maia, T., Ribeiro, M. L. (2013). Hb
Plasencia [α125(H8)Leu-Arg (α2)] is a frequent cause of α-thalassemia in the
Portuguese population. Hemoglobin (early online),1-5.
Bento, C., Oliveira, A. C., Neves, J., Gameiro, M., Cunha, E., Coucelo, M., Costa,
R. M., Barbot, J., Costa, E., Fernandez-Lago, C., Ribeiro, M. L.(2012). Hb Iberia
[α 104(G11)Cys-Arg, TGC> CGC (α2) (HBA2:c.313T>C)], a New α -Thalassemic
Hemoglobin Variant Found in the Iberian Peninsula: Report of Six Cases.
Hemoglobin, 36(6), 517-525.
Millimono TS, Loua KM, Rath SL, Relvas L, Bento C, Diakite M, Jarvis M, D. N., &
Ribeiro LM, Manco L, K. J. (2012). High Prevalence of Hemoglobin Disorders and
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Republic of Guinea
(West Africa). Hemoglobin, 36(1), 25 - 37.
Manco, L., Pereira, J., Relvas, L., Rebelo, U., Crisóstomo, A. I., Bento, C., &
Ribeiro, M. L. (2011). Chronic hemolytic anemia is associated with a new
glucose-6-phosphate dehydrogenase in-frame deletion in an older woman. Blood
cells molecules diseases, 46(4), 288-293.
Thein, S L (2011-2012)
Original peer-reviewed publications
Milton, J.T., Rooks, H., Drašar, E., McCabe, E.L. Baldwin, C.T., Melista, E.,
Gordeuk, V.R., Nouraie, M., Kato, G.R., Minniti, C., Taylor, J., Campbell, A.,
Luchtman-Jones, L., Rana, S., Castro, O., Zhang, Y., Thein, S.L., Sebastiani, P.
Genetic determinants of haemolysis in sickle cell anaemia. BJH, 2013 in press
Menzel, S., Garner, C., Rooks, H., Spector, T.D., Thein, S.L. HbA2 levels in
normal individuals are influenced by two distinct genetic mechanisms. BJH Jan
2013; 160 (1): 101-5. PMID: 23043469

Rooks, H., Clark, B., Best, S., Rushton, P., Oakley, M., Thein, O.S., Cuthbert,
A.C., Britland, A., Ruf, A., Thein, S.L. A novel 506 kb deletion causing εγδβ
thalassemia. Blood Cells, Mol Diseases June 2012; 49 (3-4): 121-7. PMID:
22677107
Vasavda, N., Gutiérrez, L., House, M.J., Drašar, E.R., St Pierre, T.G., Thein, S.L.
Renal iron load in sickle cell disease is influenced by severity of hemolysis. BJH
June 2012; 157 (5): 599-605. PMID: 22409346
Drašar, E.R., Vasavda, N., Igbineweka, N., Allman, M., Awogbade, M., Thein, S.L.
Serum ferritin and total units transfused for assessing iron overload in adults with
sickle cell disease. BJH June 2012; 157 (5): 645-7. PMID: 22332939
Vasavda, N., Woodley, C., Allman, M., Awogbade, M., Drašar, E.R., Howard J.,
Thein, S.L. Effects of co-existing α-thalassemia in sickle cell disease on
hydroxycarbamide therapy and circulating nucleic acids. BJH April-II 2012; 157
(2): 249-52. PMID: 22082280
Day, T.G, Drašar, E.R., Fulford, T., Sharpe, C.C., Thein, S.L. Association between
haemolysis and microalbuminuria in adults with sickle cell anaemia.
Haematologica Feb 2012; 97 (2): 201-5. PMID: 21993677
Gieger, C., ………, Thein, S.L., ………et al.(~160 authors) New gene functions in
megakaryopoiesis and platelet formation. Nature 8 Dec 2011; 480 (7376): 201-8.
PMID 22139419
Porter, J,B., Lin, K-H., Beris, P., Forni, G.L., Taher, A., Habr, D., Domokos, G.,
Roubert, B., Thein, S.L. Response of iron overload to deferasirox in rare
transfusion-dependent anaemias: equivalent effects on serum ferritin and labile
plasma iron for haemolytic or production anaemias. Eur J Haematol Oct 2011; 87
(4): 338-48. PMID: 21649735
Day, T.G., Thein, S.L., Drašar, E., Dick, M.C., Height, S.E., O’Driscoll, S., Rees,
D.C. Changing pattern of hospital admissions of children with sickle cell disease
over the last 50 years. J Pediatr Hematol Oncol Oct 2011; 33 (7): 491-5. PMID:
21941140
Green, L., De Lord, C., Clark, B., Cadet, E., Rochette, J., Thein, S.L. Transient
aplastic crisis as presentation of a previously unknown G6PD deficiency with iron
overload. Br J Haematol 1 Aug 2011; 154 (3): 288. PMID: 21521183
Daniel, Y., Hill K., Inusa B, Thein S.L., Howard J. Sickle cell/β0 thalassaemia
associated with the 1393bp deletion can be associated with a severe phenotype.
Hemoglobin July 2011; 35 (4): 406-10. PMID: 21797706
Nalls, M.A., ………, Thein, S.L., ……... Menzel, S. ………et al. (92 authors) Multiple
loci associated with white blood cell phenotypes. PLoS Genet Jun 2011; 7 (6)
e1002113. PMID: 21738480
Giardine, B., Borg, J., Higgs, D.R., Peterson, K.R., Philipsen, S., Maglott, D.,
Singleton, B.K., Anstee, D.J., Basak, A.N., Clark, B., Costa, F.C., Faustino, P.,
Fedosyuk, H., Felice, A.E., Francina, A., Galanello, R., Gallivan, M.V.E., Georgitsi,
M., Gibbons, R.J., Giordano, P.C., Harteveld, C.L., Hoyer, J.D., Jarvis, M., Joly, P.,
Kanavakis, E., Kollia, P., Menzel, S., Miller, W., Moradkhani, K., Old, J.,
Papachatzopoulou, A., Papadakis, M.N., Papadopoulos, P., Pavlovic, S., Perseu,
L., Radmilovic, M., Riemer, C., Satta, S., Schrijver, I., Stojiljkovic, M., Thein,
S.L., Traeger-Synodinos, J ., Tully, R., Wada, T., Waye, J.S., Wiemann, C., Zukic,
B., Chui, D.H.K., Wajcman, H., Hardison, R.C., Patrinos, G.P. Systematic
documentation and analysis of human genetic variation in hemoglobinopathies
using the microattribution approach. Nature Genetics; Apr 2011; 43 (4):
295-301. PMID: 21423179
Drasar, E., Igbineweka, N.,Vasavda, N., Free, M., Awogbade, M., Allman, M.,
Mijovic, A., Thein, S.L. Blood transfusion usage among adults with sickle cell
disease - a single institution experience over ten years. Br J Haematol Mar 2011;
152 (6): 766-70. PMID: 21275951

Broberg, C.S., Jayaweera, A.R., Diller, G.P., Prasad, S.K., Thein, S.L., Bax, B.E.,
Burman, J., Gatzoulis, M.A. Seeking optimal relation between oxygen saturation
and hemoglobin concentration in adults with cyanosis from congenital heart
disease. Am J Cardiol; Feb 2011; 107 (4): 595-9. PMID: 21295176
Vichinsky, E.P., Ohene-Frempong, K., Thein, S.L., Lopes de Castro Lobo, C., Inati,
I., Thompson, A.A., Smith-Whitley, K., Kwiatkowski, J.L., Swerdlow, P.S., Porter,
J.B., Marks, P.W. Transfusion and chelation practices in sickle cell disease; a
regional perspective. Pediatric Hemato Oncology Feb 2011:28 (2); 124-33. PMID:
20673030
Makani, J., Menzel, S., Nkya, S., Cox, S.E., Drasar, E., Soka, D., Komba, A.N.,
Mgaya, J., Rooks, H., Vasavda, N., Fegan, G., Newton,C.R., Farrall, M., Thein,
S.L. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell
anemia. Blood Jan 2011; 117 (4): 1390-2. PMID: 21068433
Other publications
Thein, S.L. The emerging role of fetal hemoglobin induction in non-transfusiondependent
thalassaemia. Blood Rev Apr 2012; 26 (Suppl 1) S35-S39. PMID:
22631042
Sharpe, C., Thein, S.L. Sickle cell nephropathy – a practical approach. Br J
Haematol Nov 2011; 155 (3): 287-97. PMID: 21902687
Hemoglobin Nov 2011; 35 (5-6) 450-62. PMID: 21932936
Thein, S.L. Genetic modifiers of sickle cell disease. Hemoglobin Nov 2011; 35 (5-
6) 589-606. PMID: 21967611
Thein, S.L. Milestones in the history of hemoglobin research (in memory of Titus
Huisman).
Thein, S.L. (Aug 2011) Abnormalities of the structure and synthesis of
hemoglobin. In: Blood and bone marrow pathology (Eds. Porwit, A., McCullough,
J., Erber, W.) 2 nd Edition, pp. 131-156. Churchill Livingstone (Elsevier Ltd), UK
Haematologists – email list – 20 June 2012
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S L Thein – 5 March 2013
Email address Surname Forename
abboudm@aub.edu.lb Abboud Miguel
patadub@yahoo.com Adu Patrick
emnang@tin.it Angelucci Emannuele
aderson.araujo@gmail.com Araujo Aderson
yesim.aydinok@ege.edu.tr Aydinok Yesim
thierybarten@hotmail.com Barten Thiery
carole.beaumont@inserm.fr Beaumont Carole
celeste.bento@chc.min-saude.pt Bento Celeste
vberdoukas@chla.usc.edu Berdoukas Vasili

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photis.beris@unilabs.com Beris Photis
paola.bianchi@policlinico.mi.it Bianchi Paola
goncalo.caetano@chc.min-saude.pt Caetano Goncalo
camaschella.clara@hsr.it Camaschella Clara
maria.cappellini@unimi.it Cappellini Nica
chiara.cattaneo@libero.it Cattaneo Chiara
lucia.defranceschi@univr.it de Franceschi Lucia
josu.delafuente@imperial.nhs.uk de la Fuente Josu
mariane.demontal@nck.aphp.fr de Montalembert Mariane
elbostanye@hotmail.com El Bostany Eman
haloomelhashmii@yahoo.com El Hashmi * Haloom
jacques.elion@rdb.aphp.fr Elion Jacques
elisafermo@yahoo.it Fermo Elisa
drjrf@terra.com.br Friedrisch Joao
giovanna_graziadei@yahoo.it
giovanna.graziadei@policlinico.mi.it
Graziadei Giovanna
hananhamedmd@yahoo.com Hamed Hanan
c.l.hartveld@lumc.nl Hartveld Kees
tikuta@mcg.edu
tikuta@georgiahealth.edu
Ikuta Tohru
iolascon@ceinge.unina.it Iolascon Achille
mdkarmas@gmail.com Karmas Panayiotis
ankatt@med.uoa.gr Kattamis Antonis
khorina@dm.net.lb Khorinaty Adlette
may-jean.king@nbs.nhs.uk King May-Jean
catherine.lacombe@cch.aphp.fr Lacombe Catherine
m.layton@imperial.ac.uk Layton Mark
caroline.le-van-kim@inserm.fr Le Van Kim Caroline
marissa.lim@viforpharma.com Lim Marissa
dloukop@bioacademy.gr
dloukop@gmail.com
Loukopoulos Dimitris
p-martinez@chu-montpellier.fr Martinez Patricia
slavicamil@gmail.com Milicevic Rasic Slavica

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e.nur@amc.nl Nur Erfan
dranaoliveira@sapo.pt Oliveira Ana
alexandra.pereira@chc.min-saude.pt Pereira Alexandra
m.phylipsen@lumc.nl Phylipsen Marion
j.porter@ucl.ac.uk
john.porter@ucl.ac.uk
pulked@gmail.com
pulkd@gmail.com
Porter John
Pulk Dianne
david.rees@kcl.ac.uk Rees David
aremacha@hsp.santpau.es Remacha Angel
leticia.ribeiro@chc.min-saude.pt Ribeiro Leticia
bmricerca@rm.unicatt.it Ricerca Bianca Maria
str2010@med.cornell.edu Rivella Stefano
irene.roberts@imperial.ac.uk Roberts Irene
sajakf@docto.com Saja Khalid
farrukh.shah@nhs.net Shah Farrukh
sstorti@rm.unicatt.it Storti Sergio
d.swinkels@labgk.umcn.nl Swinkels Dorine
ataher@aub.edu.lb Taher Ali
bayane.tannir@novartis.com Tannir Bayane
azatantawy@hotmail.com Tantawy Azza
jeckothachil@yahoo.com.uk Thachil Jecko
sl.thein@kcl.ac.uk Thein Swee Lay
van_tonin@hotmail.com Tonin Garrido Vanessa
anacrissp@uol.com.br Unknown * in Brazil Unknown
i.vanderbeek@ehaweb.org van der Beek Ineke
solinge@wxs.nl van Solinge Wouter
r.vanwijk@umcultrect.nl van Wijk Richard
monica@boldrini.org.br Veríssimo Monica
vip.vip@mahidol.ac.th
sivvp@mahidol.ac.th
Viprakasit Vip
l.vanpampus@labgk.umcn.nl von Pampus Lizzy
wanchai.wan@mahidol.ac.th Wanachiwanawin Wanchai

* Unable to find anything on internet to verify name / email address
Email address list;
abboudm@aub.edu.lb; patadub@yahoo.com; emnang@tin.it;
aderson.araujo@gmail.com; yesim.aydinok@ege.edu.tr;
thierybarten@hotmail.com; carole.beaumont@inserm.fr; celeste.bento@chc.minsaude.pt;
vberdoukas@chla.usc.edu; photis.beris@unilabs.com;
paola.bianchi@policlinico.mi.it; goncalo.caetano@chc.min-saude.pt;
camaschella.clara@hsr.it; maria.cappellini@unimi.it; chiara.cattaneo@libero.it;
lucia.defranceschi@univr.it; josu.delafuente@imperial.nhs.uk;
mariane.demontal@nck.aphp.fr; elbostanye@hotmail.com;
haloomelhashmii@yahoo.com; jacques.elion@rdb.aphp.fr; elisafermo@yahoo.it;
drjrf@terra.com.br; giovanna_graziadei@yahoo.it;
giovanna.graziadei@policlinico.mi.it; hananhamedmd@yahoo.com;
c.l.hartveld@lumc.nl; tikuta@mcg.edu; tikuta@georgiahealth.edu;
iolascon@ceinge.unina.it; mdkarmas@gmail.com; ankatt@med.uoa.gr;
khorina@dm.net.lb; may-jean.king@nbs.nhs.uk; catherine.lacombe@cch.aphp.fr;
m.layton@imperial.ac.uk; caroline.le-van-kim@inserm.fr;
marissa.lim@viforpharma.com; dloukop@bioacademy.gr; dloukop@gmail.com; pmartinez@chu-montpellier.fr;
slavicamil@gmail.com; e.nur@amc.nl;
dranaoliveira@sapo.pt; alexandra.pereira@chc.min-saude.pt;
m.phylipsen@lumc.nl; j.porter@ucl.ac.uk; john.porter@ucl.ac.uk;
pulked@gmail.com; pulkd@gmail.com; david.rees@kcl.ac.uk;
aremacha@hsp.santpau.es; leticia.ribeiro@chc.min-saude.pt;
bmricerca@rm.unicatt.it; str2010@med.cornell.edu;
irene.roberts@imperial.ac.uk; sajakf@docto.com; farrukh.shah@nhs.net;
sstorti@rm.unicatt.it; d.swinkels@labgk.umcn.nl; ataher@aub.edu.lb;
ataher@aub.edu.lb; bayane.tannir@novartis.com; azatantawy@hotmail.com;
jeckothachil@yahoo.com.uk; sl.thein@kcl.ac.uk; van_tonin@hotmail.com;
anacrissp@uol.com.br; i.vanderbeek@ehaweb.org; solinge@wxs.nl;
r.vanwijk@umcultrect.nl; monica@boldrini.org.br; vip.vip@mahidol.ac.th;
sivvp@mahidol.ac.th; l.vanpampus@labgk.umcn.nl; wanchai.wan@mahidol.ac.th