{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:18:37Z","timestamp":1783012717503,"version":"3.54.6"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T00:00:00Z","timestamp":1777766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T00:00:00Z","timestamp":1777766400000},"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":["European J of Haematology"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Delayed diagnosis of haemoglobinopathy in adulthood is a recognised but incompletely characterised clinical problem, particularly in populations with high carrier prevalence. Adults with thalassaemia syndromes and haemoglobin variants are frequently misclassified as having iron deficiency or other common causes of microcytic anaemia, leading to prolonged diagnostic uncertainty, inappropriate iron supplementation and deferred access to genetic counselling and disease\u2010specific management. The present exploratory study aimed to characterise diagnostic trajectories and candidate clinical cues associated with delayed recognition in a small single\u2010centre cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a retrospective, descriptive, single\u2010centre pilot study of 19 adults who received a confirmed haemoglobinopathy diagnosis after a prolonged diagnostic delay, defined as a documented interval of \u2265\u200912\u2009months between the first recorded abnormal haematological finding or symptom onset and the final confirmed diagnosis. We extracted clinical presentation, laboratory parameters, diagnostic pathway and retrospectively identified candidate clinical cues. Data are reported descriptively. As a secondary, hypothesis\u2010generating exercise, we describe the components and cohort\u2010level distribution of a preliminary clinical suspicion framework\u2014the Haemoglobinopathy Suspicion Score (HSS) derived from the recurrent features observed in this dataset. No external comparator group was available; all analyses are descriptive and exploratory only.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Median age at diagnosis was 39.0\u2009years (IQR 31.0\u201353.5); five patients (26.3%) were diagnosed at age\u2009\u2265\u200954\u2009years. The cohort was predominantly of Greek origin (18\/19, 94.7%) with combined \u03b1\/\u03b2 phenotypes predominating (12\/19, 63.2%). Recurring descriptive features within this small cohort included a combined microcytosis\u2013hemolysis laboratory profile: median MCV was 63.6\u2009fL (IQR 61.8\u201367.6), ferritin 201\u2009ng\/mL (IQR 89.6\u2013283.9) and total bilirubin 1.8\u2009mg\/dL (IQR 1.1\u20132.3). Persistence of microcytic anaemia despite documented iron supplementation was retrospectively identified in 12\/19 patients (63.2%; exact 95% CI 38.4%\u201383.7%). Iron deficiency anaemia was the initial misdiagnosis in 6\/19 patients (31.6%). Patients consulted a median of 2.0 specialties (IQR 1.0\u20132.5) before a correct diagnosis was established. Applying HSS components retrospectively, a score of \u2265\u20093 was present in 18\/19 patients (94.7%); this observation is descriptive only and cannot be interpreted as diagnostic performance in the absence of a comparator population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This exploratory single\u2010Centre pilot study identifies recurring descriptive features associated with diagnostic delay in a small cohort of adults with haemoglobinopathy. The proposed HSS is a preliminary, hypothesis\u2010generating clinical suspicion framework and has not been validated for clinical use. Larger, prospective, multicentric studies with appropriate comparator populations are required to derive and formally validate any bedside suspicion tool for this setting.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ejh.70209","type":"journal-article","created":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T23:34:37Z","timestamp":1777851277000},"page":"492-500","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Delayed Diagnosis of Adult Haemoglobinopathies: An Exploratory Retrospective Study of Diagnostic Trajectories and a Preliminary Clinical Suspicion Framework"],"prefix":"10.1111","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7049-6131","authenticated-orcid":false,"given":"Sophia","family":"Delicou","sequence":"first","affiliation":[{"name":"Thalassaemia and Sickle Cell Unit, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7597-4163","authenticated-orcid":false,"given":"Aikaterini","family":"Poulaki","sequence":"additional","affiliation":[{"name":"Thalassaemia and Sickle Cell Unit, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9971-5174","authenticated-orcid":false,"given":"Iliana","family":"Mani","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Savvidis","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aikaterini","family":"Xydaki","sequence":"additional","affiliation":[{"name":"Thalassaemia and Sickle Cell Unit, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Moraki","sequence":"additional","affiliation":[{"name":"Thalassaemia and Sickle Cell Unit, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantina","family":"Aggeli","sequence":"additional","affiliation":[{"name":"First Department of Cardiology, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio, National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5718-7441","authenticated-orcid":false,"given":"Ioannis","family":"Ilias","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Koskinas","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Expertise Centre of Haemoglobinopathies and Their Complications General Hospital of Athens Hippokrateio  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,3]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.4084\/mjhid.2017.018"},{"key":"e_1_2_13_3_1","article-title":"Hemoglobin A2 Lowered by Iron Deficiency and \u03b2\u2010Thalassaemia: Should Screening Recommendation for \u03b2\u2010Thalassaemia Change?","volume":"2013","author":"Denic S.","year":"2013","journal-title":"Anemia"},{"issue":"2","key":"e_1_2_13_4_1","first-page":"135","article-title":"Laboratory Diagnosis of Iron Deficiency: Look Out for the PITTs","volume":"195","author":"Rund D.","year":"2021","journal-title":"British Journal of Haematology"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000038164"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12889-024-19001-y"},{"key":"e_1_2_13_7_1","volume-title":"Guidelines for the Management of Transfusion\u2010Dependent Thalassaemia (TDT)","author":"Cappellini M. 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