Publications
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Anemia
Iron Refractory Iron Deficiency Anemia (IRIDA): A heterogeneous disease that is not always iron refractoryDonker, Schaap, Novotny, Smeets, Peters, van den Heuvel, Raphael, Rijneveld, Appel, Vlot, Versluijs, van Gelder, Granzen, Janssen, Rennings, van de Veerdonk, Brons, Bakkeren, Nijziel, Vlasveld, Swinkels. Am J Hematol 2016. In press
Iron management in chronic kidney disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies ConferenceMacdougall IC, Bircher AJ, Eckardt KU, Obrador GT, Pollock CA, Stenvinkel P, Swinkels DW, Wanner C, Weiss G, Chertow GM; Conference Participants. Kidney Int 2016;89(1):28-39.
Microcytic anaemia with low transferrin saturation, increased serum hepcidin and non-synonymous TMPRSS6 variants: not always iron-refractory iron deficiency anaemiaDonker AE, Brons PP, Swinkels DW. Br J Haematol. 2015;169(1):150-1
Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermediaOriga R, Cazzola M, Mereu E, Danjou F, Barella S, Giagu N, Galanello R, Swinkels DW. Haematologica 2015;100(5):e169-71.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel
Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesisDonker AE, Raymakers RA, Vlasveld LT, van Barneveld T, Terink R, Dors N, Brons PP, Knoers NV, Swinkels DW. Blood. 2014;123(25):3873-86
X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguiseDonker AE, Raymakers RA, Nieuwenhuis HK, Coenen MJ, Janssen MC, MacKenzie MA, Brons PP, Swinkels DW. Neth J Med 2014;72(4):210-7.
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutationsCampagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming M
Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemiaCuijpers ML, van Spronsen DJ, Muus P, Hamel BC, Swinkels DW. Int J Hematol 2011;94(1):97-100.
Hemochromatosis
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Eur J Hum Genet 2016;24(4):479-95.
Course of iron parameters in HFE-hemochromatosis patients during initial treatment with erythrocytapheresis compared to phlebotomyRombout-Sestrienkova E, Koek GH, Neslo R, van Kraaij M, Menheere PP, Masclee A, Swinkels DW. J Clin Apher 2016 [Epub ahead of print].
The quality of hereditary haemochromatosis guidelines: a comparative analysisVanclooster A, Cassiman D, Van Steenbergen W, Swinkels DW, Janssen MC, Drenth JP, Aertgeerts B, Wollersheim H. Clin Res Hepatol Gastroenterol 2015;39(2):205-14.
The importance of the general practitioner as an information source for patients with hereditary haemochromatosisTeixeira E, Borlido-Santos J, Brissot P, Butzeck B, Courtois F, Evans RW, Fernau J, Nunes JA, Mullett M, Paneque M, Pineau B, Porto G, Sorrill R, Sanchez M, Swinkels DW, Toska K, Varkonyi J; EFAPH, the European Federation of Associations of Patients with
Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic reviewMoretti D, van Doorn GM, Swinkels DW, Melse-Boonstra A. Am J Clin Nutr 2013;98(2):468-79.
Novel observations in hereditary hemochromatosis: potential implications for clinical strategiesSwinkels DW, Fleming RE. Haematologica 2011;96(4):485-8.
Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: the HEmochromatosis FAmily StudyJacobs EM, Hendriks JC, van Deursen CT, Kreeftenberg HG, de Vries RA, Marx JJ, Stalenhoef AF, Verbeek AL, Swinkels DW. J Hepatol. 2009;50(1):174-83.
Hereditary haemochromatosisJanssen MC, Swinkels DW. Best Pract Res Clin Gastroenterol 2009;23(2):171-83.
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patientsSwinkels DW, Venselaar H, Wiegerinck ET, Bakker E, Joosten I, Jaspers CA, Vasmel WL, Breuning MH. Blood Cells Mol Dis 2008;40(3):334-8.
Effect of the new HJV-L165X mutation on penetrance of HFEvan Dijk BA, Kemna EH, Tjalsma H, Klaver SM, Wiegerinck ET, Goossens JP, Slee PH, Breuning MH, Swinkels DW. Blood 2007;109(12):5525-6.
Hereditary haemochromatosis: novel genes, novel diseases and hepcidinBergmans JP, Kemna EH, Janssen MC, Jacobs EM, Stalenhoef AF, Marx JJ, Swinkels DW. Ned Tijdschr Geneeskd 2007;151(20):1121-7.
Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosisSwinkels DW, Jorna AT, Raymakers RA. Neth J Med 2007;65(11):452-5.
Hereditary hemochromatosis: genetic complexity and new diagnostic approachesSwinkels DW, Janssen MC, Bergmans J, Marx JJ. Clin Chem 2006;52(6):950-68.
Diagnosis of 5 patients with possible primary hemochromatosisJacobs EM, de Vries RA, Elving LD, Stalenhoef AF, Swinkels DW. Ned Tijdschr Geneeskd 2003;147(14):666-70.
Primary haemochromatosis: a missed cause of chronic fatigue syndrome?Swinkels DW, Aalbers N, Elving LD, Bleijenberg G, Swanink CM, van der Meer JW. Neth J Med 2002;60(11):429-33.
Diagnosis and treatment of primary hemochromatosisSwinkels DW, Marx JJ. Ned Tijdschr Geneeskd 1999;143(27):1404-8.
Hereditary haemochromatosis: recent developments in diagnosticsSwinkels DW, Cooreman MP, van Solinge WW. Ned Tijdschr Geneeskd 1997;141(28):1373-4.
Guidelines
Iron management in chronic kidney disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies ConferenceMacdougall IC, Bircher AJ, Eckardt KU, Obrador GT, Pollock CA, Stenvinkel P, Swinkels DW, Wanner C, Weiss G, Chertow GM; Conference Participants. Kidney Int 2016;89(1):28-39.
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Eur J Hum Genet 2016;24(4):479-95.
The quality of hereditary haemochromatosis guidelines: a comparative analysisVanclooster A, Cassiman D, Van Steenbergen W, Swinkels DW, Janssen MC, Drenth JP, Aertgeerts B, Wollersheim H. Clin Res Hepatol Gastroenterol 2015;39(2):205-14.
Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesisDonker AE, Raymakers RA, Vlasveld LT, van Barneveld T, Terink R, Dors N, Brons PP, Knoers NV, Swinkels DW. Blood. 2014;123(25):3873-86
Diagnosis and management of hereditary haemochromatosisvan Bokhoven MA, van Deursen CT, Swinkels DW. BMJ 2011;342:c7251.
Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosisSwinkels DW, Jorna AT, Raymakers RA. Neth J Med 2007;65(11):452-5.
DNA
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Eur J Hum Genet 2016;24(4):479-95.
X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguiseDonker AE, Raymakers RA, Nieuwenhuis HK, Coenen MJ, Janssen MC, MacKenzie MA, Brons PP, Swinkels DW. Neth J Med 2014;72(4):210-7.
