A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple
Background Thalassemia is a common hemoglobin disorder caused by genetic defects in a single autosomal gene. Based on the deficient globin strand, it can be classified as α-thalassemia or β-thalassemia. The 27.6 kb deletion on α-globin related gene cluster (−α27.6) is a rare α-thalassemia variant di...
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Taylor & Francis Group
2025-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2025.2485694 |
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| author | Wei Li Zhao-Yi Guo Zi-Han Xiu Min Long Yan Xiao Li-Yi Liu Yu-Chen Chen Si-Fan Zeng Jing Zhang Min Zhang |
| author_facet | Wei Li Zhao-Yi Guo Zi-Han Xiu Min Long Yan Xiao Li-Yi Liu Yu-Chen Chen Si-Fan Zeng Jing Zhang Min Zhang |
| author_sort | Wei Li |
| collection | DOAJ |
| description | Background Thalassemia is a common hemoglobin disorder caused by genetic defects in a single autosomal gene. Based on the deficient globin strand, it can be classified as α-thalassemia or β-thalassemia. The 27.6 kb deletion on α-globin related gene cluster (−α27.6) is a rare α-thalassemia variant discovered in 2011, which could affect the detection of common α-thalassemia variants and cause misdiagnosis.Case presentation An α-thalassemia variant carrying a Chinese couple was reported in this study. The wife was diagnosed at another hospital as αCSα/αCSα but did not manifest corresponding symptoms. After further examinations and in-depth analyses of the results, the genotype of the wife was finally confirmed to be −α27.6/αCSα. Meanwhile, the genotype of the husband was diagnosed as αCSα/αα. The couple requested prenatal diagnosis in the worry of α-thalassemia caused by αCSα/αCSα. Genetic tests on the amniotic fluid reported a mild thalassemia-related genotype of αCSα/αα, on which our suggestion of continuing pregnancy was based.Conclusion The −α27.6/αCSα case and related manifestations were first reported here expanding the gene spectrum of thalassemia. Such genotype can be misdiagnosed as αCSα/αCSα causing inaccurate estimations of thalassemia risk. To avoid these misdiagnoses, genetic tests for deletions in the related regions were advised when inconsistencies between the genotype and the phenotype were discovered. |
| format | Article |
| id | doaj-art-76dcd0f85da84122b6273494facd4cbf |
| institution | OA Journals |
| issn | 1607-8454 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-76dcd0f85da84122b6273494facd4cbf2025-08-20T02:09:37ZengTaylor & Francis GroupHematology1607-84542025-12-0130110.1080/16078454.2025.2485694A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese coupleWei Li0Zhao-Yi Guo1Zi-Han Xiu2Min Long3Yan Xiao4Li-Yi Liu5Yu-Chen Chen6Si-Fan Zeng7Jing Zhang8Min Zhang9Nanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaNanshan Maternal and Child Health Hospital, Shenzhen, People's Republic of ChinaBackground Thalassemia is a common hemoglobin disorder caused by genetic defects in a single autosomal gene. Based on the deficient globin strand, it can be classified as α-thalassemia or β-thalassemia. The 27.6 kb deletion on α-globin related gene cluster (−α27.6) is a rare α-thalassemia variant discovered in 2011, which could affect the detection of common α-thalassemia variants and cause misdiagnosis.Case presentation An α-thalassemia variant carrying a Chinese couple was reported in this study. The wife was diagnosed at another hospital as αCSα/αCSα but did not manifest corresponding symptoms. After further examinations and in-depth analyses of the results, the genotype of the wife was finally confirmed to be −α27.6/αCSα. Meanwhile, the genotype of the husband was diagnosed as αCSα/αα. The couple requested prenatal diagnosis in the worry of α-thalassemia caused by αCSα/αCSα. Genetic tests on the amniotic fluid reported a mild thalassemia-related genotype of αCSα/αα, on which our suggestion of continuing pregnancy was based.Conclusion The −α27.6/αCSα case and related manifestations were first reported here expanding the gene spectrum of thalassemia. Such genotype can be misdiagnosed as αCSα/αCSα causing inaccurate estimations of thalassemia risk. To avoid these misdiagnoses, genetic tests for deletions in the related regions were advised when inconsistencies between the genotype and the phenotype were discovered.https://www.tandfonline.com/doi/10.1080/16078454.2025.2485694Thalassemiaprenatal testingroutine blood testingdeletion of −α27.6haemoglobin capillary electrophoresisHb CS variants |
| spellingShingle | Wei Li Zhao-Yi Guo Zi-Han Xiu Min Long Yan Xiao Li-Yi Liu Yu-Chen Chen Si-Fan Zeng Jing Zhang Min Zhang A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple Hematology Thalassemia prenatal testing routine blood testing deletion of −α27.6 haemoglobin capillary electrophoresis Hb CS variants |
| title | A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple |
| title_full | A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple |
| title_fullStr | A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple |
| title_full_unstemmed | A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple |
| title_short | A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple |
| title_sort | rare α27 6 deletion compounded with the hemoglobin constant spring mutation identified in a chinese couple |
| topic | Thalassemia prenatal testing routine blood testing deletion of −α27.6 haemoglobin capillary electrophoresis Hb CS variants |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2025.2485694 |
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