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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Complications and treatment of patients with β-thalassemia in France: results of the National Registry</title><author><name sortKey="Thuret, Isabelle" sort="Thuret, Isabelle" uniqKey="Thuret I" first="Isabelle" last="Thuret">Isabelle Thuret</name><affiliation><nlm:aff id="af1-0950724"> Service d’Hématologie Pédiatrique, Hôpital d’Enfants de la Timone</nlm:aff></affiliation><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation></author><author><name sortKey="Pondarre, Corinne" sort="Pondarre, Corinne" uniqKey="Pondarre C" first="Corinne" last="Pondarré">Corinne Pondarré</name><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation><affiliation><nlm:aff id="af3-0950724"> Institut d’Hématologie et d’Oncologie Pédiatrique, Lyon</nlm:aff></affiliation></author><author><name sortKey="Loundou, Anderson" sort="Loundou, Anderson" uniqKey="Loundou A" first="Anderson" last="Loundou">Anderson Loundou</name><affiliation><nlm:aff id="af4-0950724"> Unité d’Aide Méthodologique à la Recherche Clinique et Epidémiologique, Faculté de Médecine de Marseille</nlm:aff></affiliation></author><author><name sortKey="Steschenko, Dominique" sort="Steschenko, Dominique" uniqKey="Steschenko D" first="Dominique" last="Steschenko">Dominique Steschenko</name><affiliation><nlm:aff id="af5-0950724"> Service d’ Hématologie et d’Oncologie Pédiatrique, Hôpital Brabois, Vandoeuvre les Nancy</nlm:aff></affiliation></author><author><name sortKey="Girot, Robert" sort="Girot, Robert" uniqKey="Girot R" first="Robert" last="Girot">Robert Girot</name><affiliation><nlm:aff id="af6-0950724"> Service d’Hématologie Biologique, Hôpital Tenon, Paris</nlm:aff></affiliation></author><author><name sortKey="Bachir, Dora" sort="Bachir, Dora" uniqKey="Bachir D" first="Dora" last="Bachir">Dora Bachir</name><affiliation><nlm:aff id="af7-0950724"> Unité des Maladies Génétiques du Globule Rouge, Hôpital Henri Mondor, Créteil</nlm:aff></affiliation></author><author><name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian Rose</name><affiliation><nlm:aff id="af8-0950724"> Service d’Oncologie et d’Hématologie, Hôpital St Vincent de Paul, Lille</nlm:aff></affiliation></author><author><name sortKey="Barlogis, Vincent" sort="Barlogis, Vincent" uniqKey="Barlogis V" first="Vincent" last="Barlogis">Vincent Barlogis</name><affiliation><nlm:aff id="af1-0950724"> Service d’Hématologie Pédiatrique, Hôpital d’Enfants de la Timone</nlm:aff></affiliation><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation></author><author><name sortKey="Donadieu, Jean" sort="Donadieu, Jean" uniqKey="Donadieu J" first="Jean" last="Donadieu">Jean Donadieu</name><affiliation><nlm:aff id="af9-0950724"> Service d’Hématologie et d’Oncologie Pédiatrique, Hôpital Trousseau, Paris</nlm:aff></affiliation></author><author><name sortKey="De Montalembert, Mariane" sort="De Montalembert, Mariane" uniqKey="De Montalembert M" first="Mariane" last="De Montalembert">Mariane De Montalembert</name><affiliation><nlm:aff id="af10-0950724"> Service de Pédiatrie, Hôpital Necker, Paris</nlm:aff></affiliation></author><author><name sortKey="Hagege, Isabelle" sort="Hagege, Isabelle" uniqKey="Hagege I" first="Isabelle" last="Hagege">Isabelle Hagege</name><affiliation><nlm:aff id="af11-0950724"> Service de Médecine Interne, Hôpital Tenon, Paris</nlm:aff></affiliation></author><author><name sortKey="Pegourie, Brigitte" sort="Pegourie, Brigitte" uniqKey="Pegourie B" first="Brigitte" last="Pegourie">Brigitte Pegourie</name><affiliation><nlm:aff id="af12-0950724"> Service d’Hématologie Clinique, Hôpital Michallon, Grenoble</nlm:aff></affiliation></author><author><name sortKey="Berger, Claire" sort="Berger, Claire" uniqKey="Berger C" first="Claire" last="Berger">Claire Berger</name><affiliation><nlm:aff id="af13-0950724"> Service de Pédiatrie, Hôpital Nord, Saint Etienne</nlm:aff></affiliation></author><author><name sortKey="Micheau, Marguerite" sort="Micheau, Marguerite" uniqKey="Micheau M" first="Marguerite" last="Micheau">Marguerite Micheau</name><affiliation><nlm:aff id="af14-0950724"> Laboratoire d’Hématologie et d’Immunologie, Hôpital Pellegrin, Bordeaux</nlm:aff></affiliation></author><author><name sortKey="Bernaudin, Francoise" sort="Bernaudin, Francoise" uniqKey="Bernaudin F" first="Françoise" last="Bernaudin">Françoise Bernaudin</name><affiliation><nlm:aff id="af15-0950724"> Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil</nlm:aff></affiliation></author><author><name sortKey="Leblanc, Thierry" sort="Leblanc, Thierry" uniqKey="Leblanc T" first="Thierry" last="Leblanc">Thierry Leblanc</name><affiliation><nlm:aff id="af16-0950724"> Service d’Hématologie Pédiatrique, Hôpital Robert Debré, Paris</nlm:aff></affiliation></author><author><name sortKey="Lutz, Laurence" sort="Lutz, Laurence" uniqKey="Lutz L" first="Laurence" last="Lutz">Laurence Lutz</name><affiliation><nlm:aff id="af17-0950724"> Service d’Oncologie et d’Hématologie Pédiatrique, Hôpital Hautepierre, Strasbourg</nlm:aff></affiliation></author><author><name sortKey="Galacteros, Frederic" sort="Galacteros, Frederic" uniqKey="Galacteros F" first="Frédéric" last="Galactéros">Frédéric Galactéros</name><affiliation><nlm:aff id="af7-0950724"> Unité des Maladies Génétiques du Globule Rouge, Hôpital Henri Mondor, Créteil</nlm:aff></affiliation></author><author><name sortKey="Simeoni, Marie Claude" sort="Simeoni, Marie Claude" uniqKey="Simeoni M" first="Marie-Claude" last="Siméoni">Marie-Claude Siméoni</name><affiliation><nlm:aff id="af4-0950724"> Unité d’Aide Méthodologique à la Recherche Clinique et Epidémiologique, Faculté de Médecine de Marseille</nlm:aff></affiliation></author><author><name sortKey="Badens, Catherine" sort="Badens, Catherine" uniqKey="Badens C" first="Catherine" last="Badens">Catherine Badens</name><affiliation><nlm:aff id="af18-0950724"> Laboratoire de Génétique Moléculaire, Hôpital d’Enfants de la Timone, Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20007138</idno><idno type="pmc">2864377</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864377</idno><idno type="RBID">PMC:2864377</idno><idno type="doi">10.3324/haematol.2009.018051</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">000183</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Complications and treatment of patients with β-thalassemia in France: results of the National Registry</title><author><name sortKey="Thuret, Isabelle" sort="Thuret, Isabelle" uniqKey="Thuret I" first="Isabelle" last="Thuret">Isabelle Thuret</name><affiliation><nlm:aff id="af1-0950724"> Service d’Hématologie Pédiatrique, Hôpital d’Enfants de la Timone</nlm:aff></affiliation><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation></author><author><name sortKey="Pondarre, Corinne" sort="Pondarre, Corinne" uniqKey="Pondarre C" first="Corinne" last="Pondarré">Corinne Pondarré</name><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation><affiliation><nlm:aff id="af3-0950724"> Institut d’Hématologie et d’Oncologie Pédiatrique, Lyon</nlm:aff></affiliation></author><author><name sortKey="Loundou, Anderson" sort="Loundou, Anderson" uniqKey="Loundou A" first="Anderson" last="Loundou">Anderson Loundou</name><affiliation><nlm:aff id="af4-0950724"> Unité d’Aide Méthodologique à la Recherche Clinique et Epidémiologique, Faculté de Médecine de Marseille</nlm:aff></affiliation></author><author><name sortKey="Steschenko, Dominique" sort="Steschenko, Dominique" uniqKey="Steschenko D" first="Dominique" last="Steschenko">Dominique Steschenko</name><affiliation><nlm:aff id="af5-0950724"> Service d’ Hématologie et d’Oncologie Pédiatrique, Hôpital Brabois, Vandoeuvre les Nancy</nlm:aff></affiliation></author><author><name sortKey="Girot, Robert" sort="Girot, Robert" uniqKey="Girot R" first="Robert" last="Girot">Robert Girot</name><affiliation><nlm:aff id="af6-0950724"> Service d’Hématologie Biologique, Hôpital Tenon, Paris</nlm:aff></affiliation></author><author><name sortKey="Bachir, Dora" sort="Bachir, Dora" uniqKey="Bachir D" first="Dora" last="Bachir">Dora Bachir</name><affiliation><nlm:aff id="af7-0950724"> Unité des Maladies Génétiques du Globule Rouge, Hôpital Henri Mondor, Créteil</nlm:aff></affiliation></author><author><name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian Rose</name><affiliation><nlm:aff id="af8-0950724"> Service d’Oncologie et d’Hématologie, Hôpital St Vincent de Paul, Lille</nlm:aff></affiliation></author><author><name sortKey="Barlogis, Vincent" sort="Barlogis, Vincent" uniqKey="Barlogis V" first="Vincent" last="Barlogis">Vincent Barlogis</name><affiliation><nlm:aff id="af1-0950724"> Service d’Hématologie Pédiatrique, Hôpital d’Enfants de la Timone</nlm:aff></affiliation><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation></author><author><name sortKey="Donadieu, Jean" sort="Donadieu, Jean" uniqKey="Donadieu J" first="Jean" last="Donadieu">Jean Donadieu</name><affiliation><nlm:aff id="af9-0950724"> Service d’Hématologie et d’Oncologie Pédiatrique, Hôpital Trousseau, Paris</nlm:aff></affiliation></author><author><name sortKey="De Montalembert, Mariane" sort="De Montalembert, Mariane" uniqKey="De Montalembert M" first="Mariane" last="De Montalembert">Mariane De Montalembert</name><affiliation><nlm:aff id="af10-0950724"> Service de Pédiatrie, Hôpital Necker, Paris</nlm:aff></affiliation></author><author><name sortKey="Hagege, Isabelle" sort="Hagege, Isabelle" uniqKey="Hagege I" first="Isabelle" last="Hagege">Isabelle Hagege</name><affiliation><nlm:aff id="af11-0950724"> Service de Médecine Interne, Hôpital Tenon, Paris</nlm:aff></affiliation></author><author><name sortKey="Pegourie, Brigitte" sort="Pegourie, Brigitte" uniqKey="Pegourie B" first="Brigitte" last="Pegourie">Brigitte Pegourie</name><affiliation><nlm:aff id="af12-0950724"> Service d’Hématologie Clinique, Hôpital Michallon, Grenoble</nlm:aff></affiliation></author><author><name sortKey="Berger, Claire" sort="Berger, Claire" uniqKey="Berger C" first="Claire" last="Berger">Claire Berger</name><affiliation><nlm:aff id="af13-0950724"> Service de Pédiatrie, Hôpital Nord, Saint Etienne</nlm:aff></affiliation></author><author><name sortKey="Micheau, Marguerite" sort="Micheau, Marguerite" uniqKey="Micheau M" first="Marguerite" last="Micheau">Marguerite Micheau</name><affiliation><nlm:aff id="af14-0950724"> Laboratoire d’Hématologie et d’Immunologie, Hôpital Pellegrin, Bordeaux</nlm:aff></affiliation></author><author><name sortKey="Bernaudin, Francoise" sort="Bernaudin, Francoise" uniqKey="Bernaudin F" first="Françoise" last="Bernaudin">Françoise Bernaudin</name><affiliation><nlm:aff id="af15-0950724"> Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil</nlm:aff></affiliation></author><author><name sortKey="Leblanc, Thierry" sort="Leblanc, Thierry" uniqKey="Leblanc T" first="Thierry" last="Leblanc">Thierry Leblanc</name><affiliation><nlm:aff id="af16-0950724"> Service d’Hématologie Pédiatrique, Hôpital Robert Debré, Paris</nlm:aff></affiliation></author><author><name sortKey="Lutz, Laurence" sort="Lutz, Laurence" uniqKey="Lutz L" first="Laurence" last="Lutz">Laurence Lutz</name><affiliation><nlm:aff id="af17-0950724"> Service d’Oncologie et d’Hématologie Pédiatrique, Hôpital Hautepierre, Strasbourg</nlm:aff></affiliation></author><author><name sortKey="Galacteros, Frederic" sort="Galacteros, Frederic" uniqKey="Galacteros F" first="Frédéric" last="Galactéros">Frédéric Galactéros</name><affiliation><nlm:aff id="af7-0950724"> Unité des Maladies Génétiques du Globule Rouge, Hôpital Henri Mondor, Créteil</nlm:aff></affiliation></author><author><name sortKey="Simeoni, Marie Claude" sort="Simeoni, Marie Claude" uniqKey="Simeoni M" first="Marie-Claude" last="Siméoni">Marie-Claude Siméoni</name><affiliation><nlm:aff id="af4-0950724"> Unité d’Aide Méthodologique à la Recherche Clinique et Epidémiologique, Faculté de Médecine de Marseille</nlm:aff></affiliation></author><author><name sortKey="Badens, Catherine" sort="Badens, Catherine" uniqKey="Badens C" first="Catherine" last="Badens">Catherine Badens</name><affiliation><nlm:aff id="af18-0950724"> Laboratoire de Génétique Moléculaire, Hôpital d’Enfants de la Timone, Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="af2-0950724"> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</nlm:aff></affiliation></author></analytic><series><title level="j">Haematologica</title><idno type="ISSN">0390-6078</idno><idno type="eISSN">1592-8721</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>β-thalassemia is a rare disease in France, encountered mainly in patients originating from Italy and North Africa. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 2005. Epidemiological and clinical data have been collected on living patients with β-thalassemia major or intermedia, including those who underwent hematopoietic stem cell transplantation.</p></sec><sec><title>Design and Methods</title><p>A standardized questionnaire was sent to clinicians throughout the national professional networks involved in the management of thalassemic patients and data were updated every 18 months. A cross-sectional study was performed in February 2009.</p></sec><sec><title>Results</title><p>Data on 378 patients (267 with thalassemia major) with a median age of 20 were recorded. Hematopoietic stem cell transplantation was performed in 52 patients. Stature, rates of parenthood, splenectomy, and cholecystectomy were no different between non-transplanted thalassemia major and thalassemia intermedia patients, after adjustment for age. Among the 215 non-transplanted thalassemia major patients, the median serum ferritin level was 1240 ng/mL and the rates of iron-related complications were 10%, 6%, 10% and 48% for cardiac failure, diabetes, hypothyroidism, and hypogonadism, respectively. From 2005 to 2008, a dramatic switch in chelation treatment, from deferoxamine to deferasirox, was observed.</p></sec><sec><title>Conclusions</title><p>The rates of complications of iron overload in French thalassemia major patients appeared similar to those reported in other developed countries in which this condition is not endemic. There were no significant differences in height and parenthood rates between patients with the major and the intermedia forms of the disease, underlining the progress in clinical care. Future developments will focus on mortality and morbidity under oral chelation treatment.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Haematologica</journal-id><journal-id journal-id-type="hwp">haematol</journal-id><journal-id journal-id-type="publisher-id">Haematologica</journal-id><journal-title-group><journal-title>Haematologica</journal-title></journal-title-group><issn pub-type="ppub">0390-6078</issn><issn pub-type="epub">1592-8721</issn><publisher><publisher-name>Ferrata Storti Foundation</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">20007138</article-id><article-id pub-id-type="pmc">2864377</article-id><article-id pub-id-type="doi">10.3324/haematol.2009.018051</article-id><article-id pub-id-type="publisher-id">0950724</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject><subj-group><subject>Thalassemia Syndromes</subject></subj-group></subj-group></article-categories><title-group><article-title>Complications and treatment of patients with β-thalassemia in France: results of the National Registry</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Thuret</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="af1-0950724">1</xref><xref ref-type="aff" rid="af2-0950724">2</xref></contrib><contrib contrib-type="author"><name><surname>Pondarré</surname><given-names>Corinne</given-names></name><xref ref-type="aff" rid="af2-0950724">2</xref><xref ref-type="aff" rid="af3-0950724">3</xref></contrib><contrib contrib-type="author"><name><surname>Loundou</surname><given-names>Anderson</given-names></name><xref ref-type="aff" rid="af4-0950724">4</xref></contrib><contrib contrib-type="author"><name><surname>Steschenko</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="af5-0950724">5</xref></contrib><contrib contrib-type="author"><name><surname>Girot</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="af6-0950724">6</xref></contrib><contrib contrib-type="author"><name><surname>Bachir</surname><given-names>Dora</given-names></name><xref ref-type="aff" rid="af7-0950724">7</xref></contrib><contrib contrib-type="author"><name><surname>Rose</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="af8-0950724">8</xref></contrib><contrib contrib-type="author"><name><surname>Barlogis</surname><given-names>Vincent</given-names></name><xref ref-type="aff" rid="af1-0950724">1</xref><xref ref-type="aff" rid="af2-0950724">2</xref></contrib><contrib contrib-type="author"><name><surname>Donadieu</surname><given-names>Jean</given-names></name><xref ref-type="aff" rid="af9-0950724">9</xref></contrib><contrib contrib-type="author"><name><surname>de Montalembert</surname><given-names>Mariane</given-names></name><xref ref-type="aff" rid="af10-0950724">10</xref></contrib><contrib contrib-type="author"><name><surname>Hagege</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="af11-0950724">11</xref></contrib><contrib contrib-type="author"><name><surname>Pegourie</surname><given-names>Brigitte</given-names></name><xref ref-type="aff" rid="af12-0950724">12</xref></contrib><contrib contrib-type="author"><name><surname>Berger</surname><given-names>Claire</given-names></name><xref ref-type="aff" rid="af13-0950724">13</xref></contrib><contrib contrib-type="author"><name><surname>Micheau</surname><given-names>Marguerite</given-names></name><xref ref-type="aff" rid="af14-0950724">14</xref></contrib><contrib contrib-type="author"><name><surname>Bernaudin</surname><given-names>Françoise</given-names></name><xref ref-type="aff" rid="af15-0950724">15</xref></contrib><contrib contrib-type="author"><name><surname>Leblanc</surname><given-names>Thierry</given-names></name><xref ref-type="aff" rid="af16-0950724">16</xref></contrib><contrib contrib-type="author"><name><surname>Lutz</surname><given-names>Laurence</given-names></name><xref ref-type="aff" rid="af17-0950724">17</xref></contrib><contrib contrib-type="author"><name><surname>Galactéros</surname><given-names>Frédéric</given-names></name><xref ref-type="aff" rid="af7-0950724">7</xref></contrib><contrib contrib-type="author"><name><surname>Siméoni</surname><given-names>Marie-Claude</given-names></name><xref ref-type="aff" rid="af4-0950724">4</xref></contrib><contrib contrib-type="author"><name><surname>Badens</surname><given-names>Catherine</given-names></name><xref ref-type="aff" rid="af18-0950724">18</xref><xref ref-type="aff" rid="af2-0950724">2</xref><xref ref-type="corresp" rid="c1-0950724"></xref></contrib></contrib-group><aff id="af1-0950724"><label>1</label> Service d’Hématologie Pédiatrique, Hôpital d’Enfants de la Timone</aff><aff id="af2-0950724"><label>2</label> Centre de Référence Maladies Rares “Thalassémies”, Hôpital d’Enfants de la Timone, Marseille</aff><aff id="af3-0950724"><label>3</label> Institut d’Hématologie et d’Oncologie Pédiatrique, Lyon</aff><aff id="af4-0950724"><label>4</label> Unité d’Aide Méthodologique à la Recherche Clinique et Epidémiologique, Faculté de Médecine de Marseille</aff><aff id="af5-0950724"><label>5</label> Service d’ Hématologie et d’Oncologie Pédiatrique, Hôpital Brabois, Vandoeuvre les Nancy</aff><aff id="af6-0950724"><label>6</label> Service d’Hématologie Biologique, Hôpital Tenon, Paris</aff><aff id="af7-0950724"><label>7</label> Unité des Maladies Génétiques du Globule Rouge, Hôpital Henri Mondor, Créteil</aff><aff id="af8-0950724"><label>8</label> Service d’Oncologie et d’Hématologie, Hôpital St Vincent de Paul, Lille</aff><aff id="af9-0950724"><label>9</label> Service d’Hématologie et d’Oncologie Pédiatrique, Hôpital Trousseau, Paris</aff><aff id="af10-0950724"><label>10</label> Service de Pédiatrie, Hôpital Necker, Paris</aff><aff id="af11-0950724"><label>11</label> Service de Médecine Interne, Hôpital Tenon, Paris</aff><aff id="af12-0950724"><label>12</label> Service d’Hématologie Clinique, Hôpital Michallon, Grenoble</aff><aff id="af13-0950724"><label>13</label> Service de Pédiatrie, Hôpital Nord, Saint Etienne</aff><aff id="af14-0950724"><label>14</label> Laboratoire d’Hématologie et d’Immunologie, Hôpital Pellegrin, Bordeaux</aff><aff id="af15-0950724"><label>15</label> Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil</aff><aff id="af16-0950724"><label>16</label> Service d’Hématologie Pédiatrique, Hôpital Robert Debré, Paris</aff><aff id="af17-0950724"><label>17</label> Service d’Oncologie et d’Hématologie Pédiatrique, Hôpital Hautepierre, Strasbourg</aff><aff id="af18-0950724"><label>18</label> Laboratoire de Génétique Moléculaire, Hôpital d’Enfants de la Timone, Marseille, France</aff><author-notes><corresp id="c1-0950724">Correspondence: Catherine Badens, Laboratoire de Génétique Moléculaire, Hôpital d’enfants de la Timone, 13385 Marseille cedex 5 France. E-mail :
<email>atherine.badens@ap-hm.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>5</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>8</day><month>12</month><year>2009</year></pub-date><volume>95</volume><issue>5</issue><fpage>724</fpage><lpage>729</lpage><history><date date-type="received"><day>11</day><month>10</month><year>2009</year></date><date date-type="rev-recd"><day>6</day><month>11</month><year>2009</year></date><date date-type="accepted"><day>11</day><month>11</month><year>2009</year></date></history><permissions><copyright-statement>Copyright© Ferrata Storti Foundation</copyright-statement></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="95724.pdf"></self-uri><abstract><sec><title>Background</title><p>β-thalassemia is a rare disease in France, encountered mainly in patients originating from Italy and North Africa. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 2005. Epidemiological and clinical data have been collected on living patients with β-thalassemia major or intermedia, including those who underwent hematopoietic stem cell transplantation.</p></sec><sec><title>Design and Methods</title><p>A standardized questionnaire was sent to clinicians throughout the national professional networks involved in the management of thalassemic patients and data were updated every 18 months. A cross-sectional study was performed in February 2009.</p></sec><sec><title>Results</title><p>Data on 378 patients (267 with thalassemia major) with a median age of 20 were recorded. Hematopoietic stem cell transplantation was performed in 52 patients. Stature, rates of parenthood, splenectomy, and cholecystectomy were no different between non-transplanted thalassemia major and thalassemia intermedia patients, after adjustment for age. Among the 215 non-transplanted thalassemia major patients, the median serum ferritin level was 1240 ng/mL and the rates of iron-related complications were 10%, 6%, 10% and 48% for cardiac failure, diabetes, hypothyroidism, and hypogonadism, respectively. From 2005 to 2008, a dramatic switch in chelation treatment, from deferoxamine to deferasirox, was observed.</p></sec><sec><title>Conclusions</title><p>The rates of complications of iron overload in French thalassemia major patients appeared similar to those reported in other developed countries in which this condition is not endemic. There were no significant differences in height and parenthood rates between patients with the major and the intermedia forms of the disease, underlining the progress in clinical care. Future developments will focus on mortality and morbidity under oral chelation treatment.</p></sec></abstract><kwd-group><kwd>β-thalassemia</kwd><kwd>National Registry</kwd><kwd>France</kwd><kwd>epidemiology</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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