{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T11:28:39Z","timestamp":1792582119399,"version":"4.5.0"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T00:00:00Z","timestamp":1687737600000},"content-version":"vor","delay-in-days":25,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Hemoglobin E (HbE) is the most prevalent hemoglobinopathy in the eastern Indian subcontinent. We presented the case of a 53-year-old male from Nepal with a history of multiple blood transfusions who presented with abdominal fullness for 15\u00a0years and easy fatigability for 2 months. He had pallor and massive splenomegaly. Laboratory parameters showed pancytopenia with microcytic anemia, indirect hyperbilirubinemia, target cells in the peripheral smear and iron overload. A computed tomography scan of the abdomen showed multiple splenic infarcts. Hemoglobin electrophoresis was suggestive of HbE homozygous disease. Based on these findings, we made a diagnosis of HbE homozygous disease. We provided symptomatic treatment and folic acid supplementation and counseled him for splenectomy and genetic screening. Our case highlighted the uncommon presentation of Hb E disease.<\/jats:p>","DOI":"10.1093\/omcr\/omad062","type":"journal-article","created":{"date-parts":[[2023,6,8]],"date-time":"2023-06-08T03:49:57Z","timestamp":1686196197000},"source":"Crossref","is-referenced-by-count":5,"title":["Severe homozygous HbE disease: the first case report from Nepal"],"prefix":"10.1093","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5895-1405","authenticated-orcid":false,"given":"Urza","family":"Bhattarai","sequence":"first","affiliation":[{"name":"B.P. Koirala Institute of Health Sciences Department of Internal Medicine, , Dharan, Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dibasha","family":"Adhikari","sequence":"additional","affiliation":[{"name":"B.P. Koirala Institute of Health Sciences Department of Internal Medicine, , Dharan, Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5588-4902","authenticated-orcid":false,"given":"Arun","family":"Gautam","sequence":"additional","affiliation":[{"name":"B.P. Koirala Institute of Health Sciences Department of Internal Medicine, , Dharan, Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0279-4636","authenticated-orcid":false,"given":"Ayush","family":"Anand","sequence":"additional","affiliation":[{"name":"B.P. Koirala Institute of Health Sciences , Dharan 56700, Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhupendra","family":"Shah","sequence":"additional","affiliation":[{"name":"B.P. Koirala Institute of Health Sciences Department of Internal Medicine, , Dharan, Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8392-8028","authenticated-orcid":false,"given":"Sanjib Kumar","family":"Sharma","sequence":"additional","affiliation":[{"name":"B.P. Koirala Institute of Health Sciences Department of Internal Medicine, , Dharan, Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,6,26]]},"reference":[{"key":"2023062616291552200_ref1","doi-asserted-by":"crossref","first-page":"a011692","DOI":"10.1101\/cshperspect.a011692","article-title":"World distribution, population genetics, and health burden of the hemoglobinopathies","volume":"2","author":"Williams","year":"2012","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2023062616291552200_ref2","doi-asserted-by":"crossref","first-page":"a011734","DOI":"10.1101\/cshperspect.a011734","article-title":"The Hemoglobin E Thalassemias","volume":"2","author":"Fucharoen","year":"2012","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2023062616291552200_ref3","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1080\/10245330701255247","article-title":"Hemoglobin E disease in North Indian population: a report of 11 cases","volume":"12","author":"Kishore","year":"2007","journal-title":"Hematology"},{"key":"2023062616291552200_ref4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1182\/asheducation-2007.1.79","article-title":"Syndromes","volume":"2007","author":"Vichinsky","year":"2007","journal-title":"Hematology"},{"key":"2023062616291552200_ref5","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1097\/00062752-200003000-00006","article-title":"Clinical and hematologic aspects of hemoglobin E beta-thalassemia","volume":"7","author":"Fucharoen","year":"2000","journal-title":"Curr Opin Hematol"},{"key":"2023062616291552200_ref6","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s11658-020-00244-7","article-title":"Iron overload adversely effects bone marrow haematogenesis via SIRT-SOD2-mROS in a process ameliorated by curcumin","volume":"26","author":"Zhou","year":"2021","journal-title":"Cell Mol Biol Lett"},{"key":"2023062616291552200_ref7","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1309\/AJCPP50JIXXZVLSS","article-title":"The range of hemoglobin A(2) in hemoglobin E heterozygotes as determined by capillary electrophoresis","volume":"132","author":"Mais","year":"2009","journal-title":"Am J Clin Pathol"},{"key":"2023062616291552200_ref8","doi-asserted-by":"crossref","first-page":"274","DOI":"10.5045\/kjh.2011.46.4.274","article-title":"Splenic infarction in a patient with autoimmune hemolytic anemia and protein C deficiency","volume":"46","author":"Park","year":"2011","journal-title":"Korean J Hematol"},{"key":"2023062616291552200_ref9","doi-asserted-by":"crossref","first-page":"2310","DOI":"10.1016\/S0140-6736(22)00536-0","article-title":"Thalassaemia","volume":"399","author":"Kattamis","year":"2022","journal-title":"Lancet"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2023\/6\/omad062\/50705203\/omad062.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2023\/6\/omad062\/50705203\/omad062.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T13:33:01Z","timestamp":1687786381000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omad062\/7207652"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,1]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omad062","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,6]]},"published":{"date-parts":[[2023,6,1]]},"article-number":"omad062"}}