{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T07:01:32Z","timestamp":1697094092942},"reference-count":0,"publisher":"Hematology Section, Dept. of Radiological Science and Hematology, Catholic University, Rome, Italy","issue":"1","license":[{"start":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T00:00:00Z","timestamp":1651104000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mediterr J Hematol Infect Dis"],"abstract":"<jats:p>Background: IVS-II-5 G&gt;C (HBB: c.315+5 G&gt;C) is a rare \u03b2-thalassemia mutation. However, there is no clear evidence regarding the effect of this defect or co-inheritance of other \u03b2-thalassemia mutations on phenotypes.\nMethods: The clinical phenotypes associated with compound heterozygosity for the IVS-II-5 G&gt;C mutation with other \u03b2-thalassemia mutations, together with the potential effect of the genetic modifiers \u03b1-thalassemia were studied in 13 patients. Analyses of red cell indices, hemoglobin component, iron status, and \u03b1-globin genes were carried out in 19 heterozygotes.\nResults: Next-generation sequencing of 24 undiagnosed patients with thalassemia major (TM) or thalassemia intermedia (TI) identified 13 carriers of the IVS-II-5 G&gt;C mutation. There was a wide spectrum of phenotypic severity in compound heterozygotes and 6 (46.2%) of 13 were transfusion dependent. Analysis of 19 heterozygotes indicated that most were hematologically normal without appreciable microcytosis or hypochromia, and approximately half had normal hemoglobin A2 levels at the same time.\nConclusion: Compound heterozygotes for IVS-II-5 G&gt;C and other severe \u03b2-thalassemia mutations are phenotypically severe enough to necessitate appropriate therapy and counseling. Co-inheritance of this nucleotide substitution with other \u03b2-thalassemia mutations may account for a considerable portion of the incidence of undiagnosed patients with TI and TM in Guangxi. The IVS-II-5 G&gt;C mutation can pose serious difficulties in screening and counseling.\nKeywords: \u03b2-thalassemia; IVS-II-5 G&gt;C; genotype; phenotype<\/jats:p>","DOI":"10.4084\/mjhid.2022.034","type":"journal-article","created":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T19:48:11Z","timestamp":1651175291000},"page":"e2022034","source":"Crossref","is-referenced-by-count":1,"title":["THE CLINICAL SIGNIFICANCE OF THE SPECTRUM OF INTERACTIONS OF THE RARE IVS-II-5 G&gt;C (HBB: C.315+5 G&gt;C) VARIATION WITH OTHER \u0392-THALASSEMIA MUTATIONS IN SOUTHERN CHINA"],"prefix":"10.4084","volume":"14","author":[{"given":"Yali","family":"Zhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiping","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaolin","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhili","family":"Geng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuying","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganghui","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2554","published-online":{"date-parts":[[2022,4,28]]},"container-title":["Mediterranean Journal of Hematology and Infectious Diseases"],"original-title":[],"link":[{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/download\/4916\/4162","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/download\/4916\/4164","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/download\/4916\/4162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T19:48:11Z","timestamp":1651175291000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/view\/4916"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,28]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1,1]]}},"URL":"https:\/\/doi.org\/10.4084\/mjhid.2022.034","relation":{},"ISSN":["2035-3006"],"issn-type":[{"value":"2035-3006","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,28]]}}}