{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:02:59Z","timestamp":1792202579418,"version":"4.4.0"},"reference-count":13,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,3,23]]},"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:p>Beta-thalassaemia is one of the most common genetic disorders worldwide, which is caused by absent or decreased synthesis of beta-globin chain subunits. Beta-thalassaemias are diverse groups of disease with a wide spectrum of clinical phenotypes. The clinical phenotypes can include asymptomatic forms of beta-thalassaemia minor, intermediate and severe transfusion dependent beta-thalassaemia major. Clinical severity varies depending on the underlying \u03b2 globin gene mutation. There are a number of mild \u03b2-thalassaemia gene defects that could be referred as a \u2018silent carrier\u2019. Identifying the underlying molecular defect is essential to predict phenotype severity for optimal management, tailored treatment and improved quality of life.<\/jats:p>\n               <jats:p>We report the first identification of a homozygous point mutation located within the promoter region of the \u03b2\u2010globin gene at position \u221271 (C&gt;T). The patient was a female child, who was referred to our clinic after she was found to have hypochromic microcytic anaemia with low haemoglobin (Hb) (67\u2009g\/L) and an Hb A<jats:sub>2<\/jats:sub> level at the upper limit of the normal value (3.7%). This observation is a new example of homozygous mild \u03b2-thalassaemia with a borderline Hb A<jats:sub>2<\/jats:sub> level, and illustrates a potential source of pitfall in the diagnosis of \u03b2-thalassaemia disease.<\/jats:p>","DOI":"10.1136\/bcr-2022-254416","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T13:33:01Z","timestamp":1680615181000},"page":"e254416","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Homozygous mild beta-thalassaemia promoter transversion \u221271 C&gt;T HBB:c.-121 C&gt;T"],"prefix":"10.1136","volume":"16","author":[{"given":"Suha Mustafa","family":"Hassan","sequence":"first","affiliation":[{"name":"Department of Hematology, Sultan Qaboos University, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulhakim","family":"Alrawas","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila","family":"Al Khanbashi","sequence":"additional","affiliation":[{"name":"Pediatrics, Government of Oman Ministry of Health, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4275-4524","authenticated-orcid":false,"given":"Yasser","family":"Wali","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University, Muscat, Oman"},{"name":"Department of Pediatrics, Faculty of Medicine, Alexandria University Faculty of Medicine, Alexandria, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,4,4]]},"reference":[{"key":"2025082703255919000_16.4.e254416.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/03630269.2015.1009632","article-title":"Broader spectrum of B-thalassemia mutation in oman","volume":"39","author":"Hassan","year":"2015","journal-title":"Hemoglobin"},{"key":"2025082703255919000_16.4.e254416.2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-553X.2009.01158.x"},{"key":"2025082703255919000_16.4.e254416.3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.01870.x"},{"key":"2025082703255919000_16.4.e254416.4","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1007\/s40265-020-01341-9","article-title":"Beta thalassemia: new therapeutic options beyond transfusion and iron chelation","volume":"80","author":"Motta","year":"2020","journal-title":"Drugs"},{"key":"2025082703255919000_16.4.e254416.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2011.01687.x"},{"key":"2025082703255919000_16.4.e254416.6","unstructured":"Cappellini MD , Cohen A , Eleftheriou A , et al . 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