{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T15:30:08Z","timestamp":1789399808153,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T00:00:00Z","timestamp":1599091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with a rare \u03b2\u2010thalassemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Hematology parameters and hemoglobin electrophoresis analysis, gap\u2010polymerase chain reaction (gap\u2010PCR) and reverse dot\u2010blot hybridization (RDB\u2010PCR) were employed to identify common \u03b1\u2010thalassemia and Hb H disease. Rare \u03b2\u2010thalassemia mutations were detected by DNA sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Hematological analysis and hemoglobin electrophoresis revealed a mild anemia \u03b1<jats:sup>0<\/jats:sup>\u2010thalassemia trait (Hb 90\u00a0g\/L, MCV 71 fL, and MCH 22.7\u00a0pg) compound with <jats:italic>\u03b2<\/jats:italic><jats:sup>+<\/jats:sup>\u2010thalassemia trait (MCV 71 fL, MCH 22.7\u00a0pg, and HbA2 5.51%) for the pregnant woman. DNA sequencing for the \u03b2\u2010globin gene revealed rare a \uff0d90 (C&gt;T) (<jats:italic>HBB<\/jats:italic>: c.\u2010140 C&gt;T) mutation for the woman. DNA analysis identified that the fetus inherited the \u03b1<jats:sup>0<\/jats:sup>\u2010thalassemia mutation [\u2010\u2010<jats:sup>SEA<\/jats:sup> (Southeast Asian)] and a rare <jats:italic>\u03b2<\/jats:italic><jats:sup>+<\/jats:sup>\u2010thalassemia mutation \uff0d90 (C&gt;T) (<jats:italic>HBB<\/jats:italic>: c.\u2010140 C&gt;T) from the mother, and the <jats:italic>\u03b1<\/jats:italic><jats:sup>+<\/jats:sup>\u2010thalassemia mutation [\u2010<jats:italic>\u03b1<\/jats:italic><jats:sup>4.2<\/jats:sup> (leftward)] from the father.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We reported a rare \uff0d90 (C&gt;T) (<jats:italic>HBB<\/jats:italic>: c.\u2010140 C&gt;T) mutation combined with the \u2010\u2010<jats:sup>SEA<\/jats:sup>\/\u2010<jats:italic>\u03b1<\/jats:italic><jats:sup>4.2<\/jats:sup> in a family. This finding enriched the mutation spectrum of thalassemia molecular characteristics in China and emphasized the significance in DNA sequencing in mutation screening for the families with thalassemia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1472","type":"journal-article","created":{"date-parts":[[2020,9,4]],"date-time":"2020-09-04T00:09:42Z","timestamp":1599178182000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of a rare <i>\u03b2<\/i>\u2010thalassemia gene \uff0d90 (C&gt;T) (<i>HBB<\/i>: c.\u2010140 C&gt;T) mutation associated with deletional Hb H disease (\u2010\u2010<sup>SEA<\/sup>\/\u2010<i>\u03b1<\/i><sup>4.2<\/sup>)"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6627-8038","authenticated-orcid":false,"given":"Hou","family":"Qian","sequence":"first","affiliation":[{"name":"The Medical Genetics &amp; Molecular Diagnosis Laboratory Shenzhen China"},{"name":"Prenatal Diagnosis Center Shenzhen China"},{"name":"Department of Obstetrics Shenzhen Second People's Hospital\/the First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianlin","family":"Huang","sequence":"additional","affiliation":[{"name":"The Medical Genetics &amp; Molecular Diagnosis Laboratory Shenzhen China"},{"name":"Prenatal Diagnosis Center Shenzhen China"},{"name":"Department of Obstetrics Shenzhen Second People's Hospital\/the First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji","family":"Xu","sequence":"additional","affiliation":[{"name":"The Medical Genetics &amp; Molecular Diagnosis Laboratory Shenzhen China"},{"name":"Prenatal Diagnosis Center Shenzhen China"},{"name":"Department of Obstetrics Shenzhen Second People's Hospital\/the First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihua","family":"Zhao","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Shenzhen China"},{"name":"Department of Obstetrics Shenzhen Second People's Hospital\/the First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiufeng","family":"Ye","sequence":"additional","affiliation":[{"name":"The Medical Genetics &amp; Molecular Diagnosis Laboratory Shenzhen China"},{"name":"Prenatal Diagnosis Center Shenzhen China"},{"name":"Department of Obstetrics Shenzhen Second People's Hospital\/the First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenlan","family":"Liu","sequence":"additional","affiliation":[{"name":"The Medical Genetics &amp; Molecular Diagnosis Laboratory Shenzhen China"},{"name":"Prenatal Diagnosis Center Shenzhen China"},{"name":"Department of Obstetrics Shenzhen Second People's Hospital\/the First Affiliated Hospital of Shenzhen University Health Science Center Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2016.10.015"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2018.1561461"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102002\u201007\u20101975"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V88.8.3248.bloodjournal8883248"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf00219188"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20105\u201011"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12866"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.16805"},{"key":"e_1_2_9_10_1","unstructured":"HbVar: a database of human hemoglobin variants and thalassemias. 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