{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T09:26:43Z","timestamp":1785403603648,"version":"3.56.0"},"reference-count":33,"publisher":"AOSIS","issue":"1","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Background:\u00a0\u03b2-thalassaemia is considered rare in Africa; however, recent screening-based studies suggest a \u03b2-thalassaemia trait prevalence of 6% \u2013 10% among individuals with sickle cell disease (SCD) and up to 25% in those without SCD. Co-inheritance with SCD may modify disease severity, highlighting the need for molecular confirmation.\nObjective:\u00a0To ascertain the prevalence and genetic basis of \u03b2-thalassaemia trait in Nigerians with and without SCD.\nMethods:\u00a0We recruited 260 participants (130 per group; aged 3 years \u2013 69 years, median [interquartile range] = 16 [9\u201329]). Haemoglobin fractions were analysed using high-performance liquid chromatography, and full blood counts were obtained. A 1.6 kb region of the \u03b2-globin gene was amplified and sequenced by Sanger sequencing. Variants were annotated and haplotypes constructed. An additional 26 samples from a separate SCD cohort were also genotyped.\nResults:\u00a0Molecular analysis revealed a \u03b2-thalassaemia trait prevalence of &lt; 1% in both groups, contrasting with recent screening-based reports. In addition to sickle cell, haemoglobin C, and \u03b2-thalassaemia mutations, eight other variants were identified, three of which were unique to SCD patients and in linkage disequilibrium. Sickle cell and haemoglobin C mutations occurred on the major ancestral haplotype, whereas the only \u03b2-thalassaemia mutation detected (rs33915217C&gt;A) was associated with a minor ancestral haplotype atypical of Africa. Two rare variants (rs537944366T&gt;C and rs33915217C&gt;A) are reported for the first time in the Yoruba population.\nConclusion:\u00a0These findings indicate a low prevalence of \u03b2-thalassaemia trait in Nigeria and underscore the need to re-evaluate diagnostic approaches in African populations for optimal clinical management of SCD and other anaemias.\nWhat this study adds:\u00a0This study provides the first molecular confirmation of the low prevalence of \u03b2-thalassaemia trait in the Yoruba population. It identifies two rare variants, including a \u03b2-thalassaemia mutation on a minor, atypical haplotype, and highlights the limitations of high-performance liquid chromatography, underscoring the importance of genetic testing for accurate diagnosis.<\/jats:p>","DOI":"10.4102\/ajlm.v15i1.2985","type":"journal-article","created":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T09:23:59Z","timestamp":1769505839000},"update-policy":"https:\/\/doi.org\/10.4102\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["The \u03b2-goblin gene architecture in individuals with and without sickle cell disease in Nigeria: Implications for \u03b2-thalassaemia trait diagnosis"],"prefix":"10.4102","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4979-8135","authenticated-orcid":false,"given":"Oluwatoyin A.","family":"Babalola","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03wx2rr30","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Ibadan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6981-9872","authenticated-orcid":false,"given":"Biobele J.","family":"Brown","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03wx2rr30","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Ibadan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5841-9678","authenticated-orcid":false,"given":"Foluke","family":"Fasola","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03wx2rr30","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Ibadan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3332-8571","authenticated-orcid":false,"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/024mw5h28","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Chicago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6597-7072","authenticated-orcid":false,"given":"Yonglan","family":"Zheng","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/024mw5h28","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Chicago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6513-1165","authenticated-orcid":false,"given":"Abayomi B.","family":"Odetunde","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03wx2rr30","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Ibadan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3064-3336","authenticated-orcid":false,"given":"Adeyinka G.","family":"Falusi","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03wx2rr30","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Ibadan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9936-1599","authenticated-orcid":false,"given":"Olufunmilayo","family":"Olopade","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/024mw5h28","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Chicago"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2580","published-online":{"date-parts":[[2026,1,28]]},"reference":[{"key":"ref0","doi-asserted-by":"crossref","unstructured":"Cao A, Galanello R, Rosatelli MC. 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