{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T02:16:53Z","timestamp":1792462613068,"version":"4.5.0"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,5]],"date-time":"2021-02-05T00:00:00Z","timestamp":1612483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Beta-thalassemia is a genetic disorder that is inherited in an autosomal recessive pattern. This genetic disease leads to a defective beta-globin hemoglobin chain causing partial or complete beta-globin chain synthesis loss. Beta-thalassemia major patients need a continuous blood transfusion and iron chelation to maintain the normal homeostasis of red blood cells (RBCs) and other systems in the body. Patients also require treatment procedures that are costly and tedious, resulting in a serious health burden for developing nations such as Nepal.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A total of 61 individuals clinically diagnosed to have thalassemia were genotyped with multiplex amplification refractory mutation system\u2013polymerase chain reaction (ARMS\u2013PCR). Twenty-one major mutations were investigated using allele-specific primers grouped into six different panels.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The most common mutations found (23%) were IVS 1\u20135 (G-C) and Cd 26 (G-A) (HbE), followed by 619 deletion, Cd 8\/9 (+G), Cd 16 (\u2013C), Cd 41\/42 (\u2013TTCT), IVS 1\u20131 (G\u2013T), Cd 19 (A-G), and Cd 17 (A-T) at 20%, 12%, 8%, 6%, 4%, 3%, and 1%, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The results of this study revealed that Nepal\u2019s mutational profile is comparable to that of its neighboring countries, such as India and Myanmar. This study also showed that thalassemia could be detected across 17 Nepal\u2019s ethnic groups, especially those whose ancestors originated from India and Central Asia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.hemonc.2021.01.004","type":"journal-article","created":{"date-parts":[[2021,2,10]],"date-time":"2021-02-10T21:27:04Z","timestamp":1612992424000},"page":"14-20","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["Prevalence and Distribution of Major \u03b2-Thalassemia Mutations and HbE\/\u03b2-Thalassemia Variant in Nepalese Ethnic Groups"],"prefix":"10.4103","volume":"15","author":[{"given":"Raju","family":"Lama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wardah","family":"Yusof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tilak 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increasing global health problem","volume":"79","author":"Weatherall","year":"2001","journal-title":"Bull World Health Organ"},{"key":"R3-3-20241211","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1056\/NEJMra050436","article-title":"\u03b2-Thalassemia","volume":"353","author":"Rund","year":"2005","journal-title":"New Engl J Med"},{"key":"R4-3-20241211","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1046\/j.1365-2141.2003.04769.x","article-title":"Genetic insights into the clinical diversity of \u03b2 thalassaemia","volume":"124","author":"Thein","year":"2004","journal-title":"Br J Haematol"},{"key":"R5-3-20241211","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1097\/GIM.0b013e3181cd68ed","article-title":"Beta-thalassemia","volume":"12","author":"Cao","year":"2010","journal-title":"Genet Med"},{"key":"R10-3-20241211","first-page":"13","article-title":"Detection of \u03b2-globin gene mutations among \u03b2-thalassaemia carriers and patients in Malaysia: application of multiplex amplification refractory mutation system-polymerase chain reaction","volume":"20","author":"Hassan","year":"2013","journal-title":"Malays J Med Sci"},{"key":"R11-3-20241211","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":"R12-3-20241211","first-page":"49","article-title":"Distribution and ethnic variation of \u00e2-thalassemia mutations in Nepal","volume":"14","author":"Mishra","year":"2012","journal-title":"Nepal Med Coll J"},{"key":"R14-3-20241211","doi-asserted-by":"crossref","first-page":"52","DOI":"10.33314\/jnhrc.v18i1.2303","article-title":"Distribution of hemoglobinopathy in Nepalese population","volume":"18","author":"Rekha Manandhar","year":"2020","journal-title":"J Nepal Health Res 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