{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:30:53Z","timestamp":1760189453327},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,1,13]],"date-time":"2016-01-13T00:00:00Z","timestamp":1452643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Two 21\u2010year old dizygotic twin men of Iraqi descent were homozygous for <jats:italic><jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content><\/jats:italic> codon 8, deletion of two nucleotides (\u2013<jats:styled-content style=\"fixed-case\">AA<\/jats:styled-content>) frame\u2010shift \u03b2<jats:sup>0<\/jats:sup>\u2010thalassaemia mutation (<jats:styled-content style=\"fixed-case\">FSC<\/jats:styled-content>8; <jats:italic><jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content><\/jats:italic>:c25_26del<jats:styled-content style=\"fixed-case\">AA<\/jats:styled-content>). Both were clinically well, had splenomegaly, and were never transfused. They had mild microcytic anaemia (Hb 120\u2010130\u00a0g\/l) and 98% of their haemoglobin was fetal haemoglobin (HbF). Both were carriers of Hph \u03b1\u2010thalassaemia mutation. On the three major HbF quantitative trait loci (<jats:styled-content style=\"fixed-case\">QTL<\/jats:styled-content>), the twins were homozygous for G&gt;A <jats:italic><jats:styled-content style=\"fixed-case\">HBG<\/jats:styled-content>2 Xmn1<\/jats:italic> site at single nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) rs7482144, homozygous for 3\u2010bp deletion <jats:italic><jats:styled-content style=\"fixed-case\">HBS<\/jats:styled-content>1L\u2010<jats:styled-content style=\"fixed-case\">MYB<\/jats:styled-content><\/jats:italic> intergenic polymorphism (<jats:styled-content style=\"fixed-case\">HMIP<\/jats:styled-content>) at rs66650371, and heterozygous for the A&gt;C <jats:italic><jats:styled-content style=\"fixed-case\">BCL<\/jats:styled-content>11A<\/jats:italic> intron 2 polymorphism at rs766432. These findings were compared with those found in 22 other <jats:styled-content style=\"fixed-case\">FSC<\/jats:styled-content>8 homozygote patients: four presented with thalassaemia intermedia phenotype, and 18 were transfusion dependent. The inheritance of homozygosity for <jats:styled-content style=\"fixed-case\">HMIP<\/jats:styled-content> 3\u2010bp deletion at rs66650371 and heterozygosity for Hph \u03b1\u2010thalassaemia mutation was found in the twins and not found in any of the other 22 patients. Further studies are needed to uncover likely additional genetic variants that could contribute to the exceptionally high HbF levels and mild phenotype in these twins.<\/jats:p>","DOI":"10.1111\/bjh.13909","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T09:20:34Z","timestamp":1452763234000},"page":"958-965","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The genetic basis of asymptomatic codon 8 frame\u2010shift (<i><scp>HBB<\/scp><\/i>:c25_26del<scp>AA<\/scp>) \u03b2<sup>0<\/sup>\u2010thalassaemia homozygotes"],"prefix":"10.1111","volume":"172","author":[{"given":"Zhihua","family":"Jiang","sequence":"first","affiliation":[{"name":"Departments of Medicine, Pathology and Laboratory Medicine Boston University School of Medicine Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong\u2010yuan","family":"Luo","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Pathology and Laboratory Medicine Boston University School of Medicine Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengwen","family":"Huang","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Pathology and Laboratory Medicine Boston University School of Medicine Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"Farrell","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Pathology and Laboratory Medicine Boston University School of Medicine Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lance","family":"Davis","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Pathology and Laboratory Medicine Boston University School of Medicine Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger","family":"Th\u00e9berge","sequence":"additional","affiliation":[{"name":"Center for Biomedical Mass Spectrometry Boston University School of Medicine Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine A.","family":"Benson","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Pathology and Laboratory Medicine Boston University School of Medicine Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suchada","family":"Riolueang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Thalassaemia Centre Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vip","family":"Viprakasit","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Thalassaemia Centre Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nasir A.S.","family":"Al\u2010Allawi","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences Scientific Research Centre University of Duhok Duhok Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sule","family":"\u00dcnal","sequence":"additional","affiliation":[{"name":"Division of Paediatric Haematology Department of Paediatrics Hacettepe University Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma","family":"G\u00fcmr\u00fck","sequence":"additional","affiliation":[{"name":"Division of Paediatric Haematology Department of Paediatrics Hacettepe University Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nejat","family":"Akar","sequence":"additional","affiliation":[{"name":"Department of Paediatric Molecular Genetics Medical School Ankara University Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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