{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:14:13Z","timestamp":1740147253472,"version":"3.37.3"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T00:00:00Z","timestamp":1627862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T00:00:00Z","timestamp":1627862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100012117","name":"Lady Tata Memorial Trust","doi-asserted-by":"publisher","award":["Nil"],"award-info":[{"award-number":["Nil"]}],"id":[{"id":"10.13039\/100012117","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Hemoglobin S and E are commonly occurring hemoglobin variants among distinctly separate tribal populations of Central and Northeast India, respectively. Combined heterozygosity for hemoglobin S and E or hemoglobin SE disease is a benign clinical condition with rare incidence. Reports of approximately 46 hemoglobin SE cases are available worldwide. We conducted a screening program to study the prevalence of hemoglobin variants among the tribal population working in the tea estates of Northeast India. A total of 551 subjects were screened, and complete blood count was performed. Based on their hematological profiles, hemoglobin typing was done for 218 subjects.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We describe a case of an adolescent male of Munda tribe diagnosed as double heterozygous for hemoglobin S and E. On screening of the nuclear family of the subject, the mother was found to have hemoglobin E disease and father as hemoglobin S trait. Both siblings of the subject were diagnosed as hemoglobin E trait.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This is the first case of compound heterozygous for hemoglobin S and E to be reported from the tea tribes of Assam, India.\n<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-02974-4","type":"journal-article","created":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T23:03:25Z","timestamp":1627859005000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Noymi","family":"Basumatary","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dipankar","family":"Baruah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paresh Kumar","family":"Sarma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8939-0495","authenticated-orcid":false,"given":"Jatin","family":"Sarmah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,8,2]]},"reference":[{"key":"2974_CR1","doi-asserted-by":"publisher","first-page":"592","DOI":"10.2174\/156652408786241375","volume":"8","author":"DJ Weatherall","year":"2008","unstructured":"Weatherall DJ. Hemoglobinopathies worldwide: present and future. Curr Mol Med. 2008;8:592\u20139.","journal-title":"Curr Mol Med"},{"key":"2974_CR2","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a011692","author":"TN Williams","year":"2012","unstructured":"Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med. 2012. https:\/\/doi.org\/10.1101\/cshperspect.a011692.","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2974_CR3","first-page":"34","volume":"3","author":"S Jazeera","year":"2019","unstructured":"Jazeera S, Feroze M. Compound heterozygosity for Hemoglobin E & \u0392 Thalassemia: a family study from Kerala. Int J Med Sci Diag Res. 2019;3:34\u20138.","journal-title":"Int J Med Sci Diag Res."},{"key":"2974_CR4","unstructured":"Shivashankara AR, Jailkhani R, Kini A. Hemoglobinopathies in Dharwad, North Karnataka: a hospital-based study. J Clin Diag Res. 2008;593-9."},{"key":"2974_CR5","first-page":"489","volume":"2","author":"RS Balgir","year":"2014","unstructured":"Balgir RS. Public health challenges of hemoglobinopathies in tribal land in India: a necessity of introducing genetic services in the Health Care Systems approach. Br Biomed Bull. 2014;2:489\u2013503.","journal-title":"Br Biomed Bull."},{"key":"2974_CR6","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1097\/MOH.0000000000000029","volume":"21","author":"R Colah","year":"2014","unstructured":"Colah R, Mukherjee M, Ghosh K. Sickle cell disease in India. Curr Opin Hematol. 2014;21:215\u201323.","journal-title":"Curr Opin Hematol"},{"key":"2974_CR7","first-page":"1","volume":"16","author":"D Mohanty","year":"1998","unstructured":"Mohanty D, Pathare AV. Sickle cell anemia\u2014the Indian scenario. Indian J Hematol Blood Transfus. 1998;16:1\u20132.","journal-title":"Indian J Hematol Blood Transfus."},{"key":"2974_CR8","doi-asserted-by":"publisher","DOI":"10.7860\/JCDR\/2016\/22010.9002","author":"AB Teli","year":"2016","unstructured":"Teli AB, Deori R, Saikia SP. Hemoglobinopathies and \u03b2-thalassaemia among the tribals working in the tea estates of Assam. India J Clin Diagn Res. 2016. https:\/\/doi.org\/10.7860\/JCDR\/2016\/22010.9002.","journal-title":"India. J Clin Diagn Res."},{"key":"2974_CR9","unstructured":"Bachir D, Galacteros F. Hemoglobin E disease. Orphanet Encyclopedia; 2004;1\u20134."},{"key":"2974_CR10","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1002\/ajh.20488","volume":"81","author":"E Gurkan","year":"2006","unstructured":"Gurkan E. Vaso-occlusive manifestations in a patient with sickle cell\u2013hemoglobin E (Hb SE) disease. Am J Hematol. 2006;81:149\u201356.","journal-title":"Am J Hematol"},{"key":"2974_CR11","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s12288-008-0012-0","volume":"23","author":"AA Dani","year":"2007","unstructured":"Dani AA, Shrikhande AV. Double heterozygous for hemoglobin S and hemoglobin E\u2014a case report from central India. Indian J Hematol Blood Transfus. 2007;23:119\u201321.","journal-title":"Indian J Hematol Blood Transfus."},{"key":"2974_CR12","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1111\/j.1365-2257.2006.00886.x","volume":"29","author":"HHM Knox-Macaulay","year":"2007","unstructured":"Knox-Macaulay HHM, Ahmed MM, Gravell D, Al-Kindi S, Ganesh A. Sickle cell\u2013hemoglobin E (Hb SE) compound heterozygosity: a clinical and hematological study. Int J Lab Hem. 2007;29:292\u2013301.","journal-title":"Int J Lab Hem"},{"key":"2974_CR13","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1007\/s00277-005-1044-2","volume":"84","author":"P Mishra","year":"2005","unstructured":"Mishra P, Pati HP, Chatterjee T, Dixit A, Choudhary DR, Srinivas MU, Mahapatra M, Choudhry VP. Hb SE disease: a clinico-hematological profile. Ann Hematol. 2005;84:667.","journal-title":"Ann Hematol"},{"key":"2974_CR14","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1097\/MD.0000000000000280","volume":"93","author":"AM Dessap","year":"2014","unstructured":"Dessap AM, Contou D, Dandine-Roulland C, Hemery F, Habibi A, Charles-Nelson A, Galacteros F, Brun-Buisson C, Maitre B, Katsahian S. Environmental influences on daily emergency admissions in sickle-cell disease patients. Medicine. 2014;93:280.","journal-title":"Medicine"},{"key":"2974_CR15","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1097\/PAF.0b013e3181d8e390","volume":"32","author":"EF Arbefeville","year":"2011","unstructured":"Arbefeville EF, Tebbi CK, Chrostowski L, Adams VI. Sudden death after exercise in an adolescent with Hemoglobin SE. Am J Forensic Med Pathol. 2011;32:341\u20133.","journal-title":"Am J Forensic Med Pathol"},{"key":"2974_CR16","doi-asserted-by":"publisher","first-page":"2019365","DOI":"10.1590\/1984-0462\/2021\/39\/2019365","volume":"39","author":"U Tauseef","year":"2021","unstructured":"Tauseef U, Anjum M, Ibrahim M, Baqai HS, Tauseef A, Tauseef M, Asghar MS, Zafar M, Rasheed U, Shaikh N. Occurrence of unusual hemoglobinopathies in Balochistan: Hb SD and Hb SE\u2014presentation with osteomyelitis. Rev Paul Pediatr. 2021;39:2019365.","journal-title":"Rev Paul Pediatr."}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02974-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-021-02974-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02974-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T23:05:35Z","timestamp":1627859135000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-02974-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,2]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2974"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-02974-4","relation":{},"ISSN":["1752-1947"],"issn-type":[{"type":"electronic","value":"1752-1947"}],"subject":[],"published":{"date-parts":[[2021,8,2]]},"assertion":[{"value":"15 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 June 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 August 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The present work was approved by the Institutional Ethics Committee of Bodoland University, Kokrajhar, Assam, India vide Ref. No.: IEC\/BU\/ICMR\/2019-2 of dated 10\/05\/2019. Consent was obtained from the participants to take part in the study and for blood collection.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any\u00a0accompanying images. A copy of the written consent is available for review by the Editors-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declares that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"386"}}