{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T07:38:27Z","timestamp":1792654707412,"version":"4.5.0"},"reference-count":46,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T00:00:00Z","timestamp":1742688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T00:00:00Z","timestamp":1742688000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); very few have focused on the Afro\u2010Caribbean population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To determine the genotypic and phenotypic characterization of VWD in a large cohort of Afro\u2010Caribbean patients living in Martinique.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>A total of 31 families comprising 63 Afro\u2010Caribbean patients with VWD were enrolled. A standardized questionnaire and blood samples were collected for biological and molecular genetic analyses of von Willebrand factor (VWF). The impact of new missense variants has been predicted by in silico studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The median age of patients was 53 years (range 9\u201399). The most frequent symptoms were menorrhagia (49%), easy bruising (44%) and prolonged bleeding after tooth extraction (42%). Fifteen patients (24%) had quantitative deficiencies of VWF, of whom 13 (21%) were assigned as VWD\u2010type 1, 1 (1%) as VWD\u2010type 1C and 1 (2%) as VWD\u2010type 3. Forty\u2010five patients were diagnosed with VWD\u2010type 2 (qualitative defects of VWF) (71%). VWD\u2010type 2A was the most frequent, with 36 patients. Seven patients had VWD\u2010type 2M and two patients had VWD\u2010type 2B. Three patients (5%) had an indeterminate effect of the VWF defect due to ISTH BAT at 0. Forty\u2010eight different\n                      <jats:italic>VWF<\/jats:italic>\n                      variants, including 4 novel variants, were identified in 63 patients. The variants consisted of 34 (71%) missense, 7 (15%) synonymous, 3 (6%) frameshifts, 2 (4%) small deletions and 2 (4%) gene conversions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study emphasizes the unique distribution of genotypes in our cohort of Afro\u2010Caribbean VWD patients living in Martinique.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Essentials<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>\n                            Genotype\u2010phenotype correlation was assessed in VWD Afro\u2010Caribbean patients with one or more\n                            <jats:italic>VWF<\/jats:italic>\n                            variants.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Menorrhagia, easy bruising and prolonged bleeding after tooth extraction are common in VWD patients.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Efforts to increase the awareness and diagnosis of VWD have contributed to a better identification of patients with bleeding disorders.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/hae.70003","type":"journal-article","created":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T07:34:58Z","timestamp":1742801698000},"page":"458-476","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro\u2010Caribbeans: Results From a Study in Martinique Island, French West Indies"],"prefix":"10.1111","volume":"31","author":[{"given":"Marie\u2010Dani\u00e9la","family":"Dubois","sequence":"first","affiliation":[{"name":"UR5_3 Pathologie Cardiaque, toxicit\u00e9 Environnementale et Envenimations (PC2E) CHU de Martinique (University Hospital of Martinique)  Fort de France France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier Nicolas","family":"Pierre\u2010Louis","sequence":"additional","affiliation":[{"name":"UR5_3 Pathologie Cardiaque, toxicit\u00e9 Environnementale et Envenimations (PC2E) CHU de Martinique (University Hospital of Martinique)  Fort de France France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Pierre\u2010Louis","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de Comp\u00e9tences Maladies H\u00e9morragiques Constitutionnelles CHU de Martinique  Fort\u2010de\u2010France France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Boisseau","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile V.","family":"Denis","sequence":"additional","affiliation":[{"name":"Laboratory for Hemostasis, Inflammation &amp; Thrombosis (HITh), Unit\u00e9 Mixte de Recherche 1176, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Universit\u00e9 Paris\u2010Saclay  Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabelle","family":"Dupont","sequence":"additional","affiliation":[{"name":"Univ. Lille, Inserm, CHU Lille Institut Pasteur de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Goudemand","sequence":"additional","affiliation":[{"name":"Service d'h\u00e9mostase et transfusion  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Casari","sequence":"additional","affiliation":[{"name":"Laboratory for Hemostasis, Inflammation &amp; Thrombosis (HITh), Unit\u00e9 Mixte de Recherche 1176, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Universit\u00e9 Paris\u2010Saclay  Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Jeanpierre","sequence":"additional","affiliation":[{"name":"Univ. 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