{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:49:23Z","timestamp":1786978163218,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T00:00:00Z","timestamp":1716768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The phenotype of \u03b2\u2010thalassemia varies widely. The primary determinant is the type of beta\u2010globin gene mutation; however, there are secondary and tertiary modifiers also as associated alpha mutations, polymorphisms, as well as coinheritance of mutations affecting other related systems. Co\u2010inheritance of alpha thalassemia mutations is known to ameliorate the severity of HbE\u2010\u03b2 thalassemia. However, the role of alpha globin gene alterations (deletions and triplication) is not well illustrated in homozygous \u03b2\u2010thalassemia. Here we evaluated the role of alpha globin gene alterations in 122 \u03b2\u2010thalassemia patients having IVS1\u20105 (G\u00a0&gt;\u00a0C) homozygous mutation. \u03b2\u2010thalassemia mutations were detected by ARMS PCR and alpha mutations by GAP\u2010PCR. Gene expression by qRT\u2010PCR. Out of 122 cases, 15 patients had alpha 3.7 triplications (\u03b1\u03b1\u03b1\n                    <jats:sup>3.7anti<\/jats:sup>\n                    ), 24 had alpha 3.7\u00a0kb deletion (\u2212\u03b1\n                    <jats:sup>3.7<\/jats:sup>\n                    ) mutation and three patients had 4.2\u00a0kb deletion (\u2212\u03b1\n                    <jats:sup>4.2<\/jats:sup>\n                    ). Patients were divided into two groups, requiring less than 8 units (NTDT) and more than 8 units (TDT) of blood transfusion per year (\u22658U BT\/year). The percentage of alpha deletion was significantly (\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.0042) high in NTDT (42.1%) as compared with TDT (13.2%). Conversely, the proportion of alpha triplication is high in the TDT as compared with NTDT. Even mean serum ferritin level was found to be significantly high in patients having alpha triplication as compared with those having alpha deletions (\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.0184) and normal alpha gene (\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.0003). \u03b1\/\u03b2 globin ratio was highest in TDT patients with alpha triplication and lowest in NTDT patients with alpha\u2010del. The results show that concurrent inheritance of alpha gene alterations influences the phenotypic severity of homozygous \u03b2\u2010thalassemia.\n                  <\/jats:p>","DOI":"10.1002\/jha2.923","type":"journal-article","created":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T00:43:31Z","timestamp":1716857011000},"page":"440-446","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2922-7386","authenticated-orcid":false,"given":"Jyoti","family":"Shaw","sequence":"first","affiliation":[{"name":"Institute of Hematology and Transfusion Medicine (IHTM) MCH  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhilipsa","family":"Patra","sequence":"additional","affiliation":[{"name":"Department of Physiology All India Institute of Medical Sciences (AIIMS)  Bhubaneswar India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjumana","family":"Khatun","sequence":"additional","affiliation":[{"name":"Institute of Hematology and Transfusion Medicine (IHTM) MCH  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudra","family":"Ray","sequence":"additional","affiliation":[{"name":"Institute of Hematology and Transfusion Medicine (IHTM) MCH  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Department of Physiology All India Institute of Medical Sciences (AIIMS)  Bhubaneswar India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonali","family":"Mahapatra","sequence":"additional","affiliation":[{"name":"Medical Oncology and Hematology All India Institute of Medical Sciences (AIIMS)  Bhubaneswar India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashutosh","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Medical Oncology and Hematology All India Institute of Medical Sciences (AIIMS)  Bhubaneswar India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6984-168X","authenticated-orcid":false,"given":"Maitreyee","family":"Bhattacharyya","sequence":"additional","affiliation":[{"name":"Institute of Hematology and Transfusion Medicine (IHTM) MCH  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,27]]},"reference":[{"key":"e_1_2_13_2_1","first-page":"1536","article-title":"The burden of haemoglobinopathies in India and the challenges ahead","author":"Balgir RS","year":"2000","journal-title":"Curr 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