{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T09:05:19Z","timestamp":1776071119843,"version":"3.50.1"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:00:00Z","timestamp":1775174400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"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>Co-inheritance of \u03b1- and \u03b2-thalassemia presents major diagnostic challenges, particularly in infancy, when standard hematologic parameters are often misleading. Reliance on routine hemoglobin analysis alone may therefore lead to delayed or missed diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report a case of a 4-month-old female infant who presented with severe transfusion-dependent anemia, pallor, lethargy, and hepatosplenomegaly. Comprehensive laboratory evaluation included peripheral blood film, hemolysis workup, hemoglobin capillary electrophoresis, and molecular genetic testing using multiplex polymerase chain reaction and reverse hybridization.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Initial investigations revealed normocytic normochromic anemia with hemolytic features. Capillary electrophoresis showed normal adult hemoglobin A2 and mildly elevated fetal hemoglobin, insufficient to explain the clinical severity. Molecular analysis identified a heterozygous \u2012\u03b14.2 deletion and a heterozygous IVSI-5(G&amp;gt;C)\u00a0mutation, confirming compound heterozygous \u03b1\/\u03b2-thalassemia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This case illustrates how age-related hemoglobin expression and the masking effect of \u03b1-thalassemia can render capillary electrophoresis nondiagnostic in infants with \u03b2-thalassemia. Genetic testing provided definitive diagnosis and underscores its critical role in diagnosing infants with unexplained or disproportionate anemia. Early molecular confirmation enables accurate diagnosis, appropriate counseling, and optimized clinical management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/labmed\/lmag012","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T12:42:53Z","timestamp":1772023373000},"source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic challenges and the importance of genetic testing in \u03b1\/\u03b2-thalassemia: a case report"],"prefix":"10.1093","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-1942-239X","authenticated-orcid":false,"given":"Samia","family":"Hoque","sequence":"first","affiliation":[{"name":"Department of Transfusion Medicine, Khwaja Yunus Ali Medical College & Hospital , Sirajganj,","place":["Bangladesh"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7098-5974","authenticated-orcid":false,"given":"Mohammed Mejbahuddin","family":"Mia","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine, Khwaja Yunus Ali Medical College & Hospital , Sirajganj,","place":["Bangladesh"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6737-0770","authenticated-orcid":false,"given":"Md Imrul","family":"Kaes","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Khwaja Yunus Ali Medical College & Hospital , Sirajganj,","place":["Bangladesh"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0378-1760","authenticated-orcid":false,"given":"Abul Basar Mohammad Kamrul","family":"Hasan","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine, Dinajpur Medical College , Dinajpur,","place":["Bangladesh"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0927-4126","authenticated-orcid":false,"given":"Sheikh Anisul","family":"Haque","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine, Khwaja Yunus Ali Medical College & Hospital , Sirajganj,","place":["Bangladesh"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,4,12]]},"reference":[{"key":"2026041304215726800_lmag012-B1","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1056\/NEJMra050436","article-title":"Beta-thalassemia","volume":"353","author":"Rund","year":"2005","journal-title":"N Engl J Med"},{"key":"2026041304215726800_lmag012-B2","first-page":"339","article-title":"Alpha and beta thalassemia","volume":"80","author":"Muncie","year":"2009","journal-title":"Am Fam 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