{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T19:42:25Z","timestamp":1776886945118,"version":"3.51.2"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Compound hemoglobinopathies may present with variable clinical phenotypes, particularly when additional genetic modifiers coexist. Sickle cell hemoglobin (HbS)\/\u03b2+-thalassemia can mimic other pediatric conditions, potentially delaying diagnosis. High-performance liquid chromatography (HPLC) is a widely accessible first-line screening tool that can facilitate identification of HbS\/\u03b2+-thalassemia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An 8-year-old boy from Mali presented with recurrent severe lower limb pain and gait impairment, initially suggesting a neuromuscular disorder. Laboratory evaluation revealed severe microcytic hypochromic anemia (hemoglobin, 6.3\u2009g\/dL) with reticulocytosis and biochemical evidence of hemolysis, despite preserved iron stores. Creatine kinase levels were normal. Peripheral smear showed anisopoikilocytosis with target cells, basophilic stippling, and rare sickled erythrocytes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The HPLC findings demonstrated HbS predominance (64.2%) with elevated fetal hemoglobin (8.1%), increased adult hemoglobin A2 (5.4%), and residual adult hemoglobin A (22.3%), consistent with HbS\/\u03b2+-thalassemia. Molecular testing confirmed heterozygous HbS and \u03b2+-thalassemia variants, homozygous 3.7-kilobase \u03b1-globin gene deletion, and a pathogenic glucose-6-phosphate dehydrogenase A\u2012 haplotype. Positive parvovirus B19 immunoglobulin M suggested an additional acute trigger.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Routine hematologic parameters combined with HPLC screening can promptly identify complex hemoglobinopathies in clinically misleading presentations, enabling accurate diagnosis, appropriate management, and genetic counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/labmed\/lmag019","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:05:23Z","timestamp":1773234323000},"source":"Crossref","is-referenced-by-count":0,"title":["High-performance liquid chromatography screening reveals HbS\/\u03b2+-thalassemia double heterozygosity as a pediatric muscular dystrophy mimic"],"prefix":"10.1093","volume":"57","author":[{"given":"Carlos","family":"L\u00f3pez-Medina","sequence":"first","affiliation":[{"name":"Clinical Analysis Unit, Biotechnology Department, Poniente University Hospital , El Ejido, Almer\u00eda,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel M","family":"Portell-Rigo","sequence":"additional","affiliation":[{"name":"Clinical Analysis Unit, Biotechnology Department, Poniente University Hospital , El Ejido, Almer\u00eda,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Gonz\u00e1lez-Iribarren","sequence":"additional","affiliation":[{"name":"Pediatric Department, Poniente University Hospital , El Ejido, Almer\u00eda,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Gonz\u00e1lez-Oller","sequence":"additional","affiliation":[{"name":"Clinical Analysis Unit, Biotechnology Department, Poniente University Hospital , El Ejido, Almer\u00eda,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"S\u00e1nchez-Crespo","sequence":"additional","affiliation":[{"name":"Haematology and Haemotherapy Department, Torrec\u00e1rdenas University Hospital , Almer\u00eda,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3628-4191","authenticated-orcid":false,"given":"Maria-Angustias","family":"Molina-Arrebola","sequence":"additional","affiliation":[{"name":"Haematology and Haemotherapy Unit, Biotechnology Department, Poniente University Hospital , El Ejido, Almer\u00eda,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,4,22]]},"reference":[{"key":"2026042214543114600_lmag019-B1","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1111\/bjh.18993","article-title":"Significant haemoglobinopathies: a guideline for screening and diagnosis: a British Society for Haematology Guideline","volume":"201","author":"Bain","year":"2023","journal-title":"Br J Haematol"},{"key":"2026042214543114600_lmag019-B2","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/9781394265381.ch4","volume-title":"Haemoglobinopathy Diagnosis","author":"Bain","year":"2025","edition":"4th"},{"key":"2026042214543114600_lmag019-B3","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1111\/bjh.12571","article-title":"Impact of glucose-6-phosphate dehydrogenase deficiency on sickle cell anaemia expression in infancy and early childhood: a prospective study","volume":"163","author":"Benkerrou","year":"2013","journal-title":"Br J Haematol"},{"key":"2026042214543114600_lmag019-B4","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1186\/s41182-020-00284-x","article-title":"A literature review on the parvovirus B19 infection in sickle cell anemia and \u03b2-thalassemia patients","volume":"48","author":"Soltani","year":"2020","journal-title":"Trop Med Health"},{"key":"2026042214543114600_lmag019-B5","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1016\/j.hoc.2022.06.006","article-title":"Genetic modifiers of sickle cell disease","volume":"36","author":"Pincez","year":"2022","journal-title":"Hematol Oncol Clin North Am"}],"container-title":["Laboratory 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