The -α3.7III subtype of α+-thalassemia was identified in China
Objective The 3.7 kb deletion (-α3.7) in the α-globin cluster, which characterizes α+-thalassemia, has been reported to have a carrier rate of 4.78% in southern China. Three -α3.7 subtypes have been identified worldwide. However, the -α3.7 III subtype has not previously been identified in China. Her...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2022-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2022.2101913 |
| _version_ | 1818012192543342592 |
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| author | Xiuqin Bao Jicheng Wang Danqing Qin Rui Zhang Cuize Yao Jie Liang Kailing Liang Li Du |
| author_facet | Xiuqin Bao Jicheng Wang Danqing Qin Rui Zhang Cuize Yao Jie Liang Kailing Liang Li Du |
| author_sort | Xiuqin Bao |
| collection | DOAJ |
| description | Objective The 3.7 kb deletion (-α3.7) in the α-globin cluster, which characterizes α+-thalassemia, has been reported to have a carrier rate of 4.78% in southern China. Three -α3.7 subtypes have been identified worldwide. However, the -α3.7 III subtype has not previously been identified in China. Herein, we reported identification of the -α3.7 III subtype in a Chinese patient.Methods We used gap-PCR and a liquid chip system to detect α-thalassemia mutations. Multiple ligation-dependent probe amplification was performed to detect the large deletion. We finally used Sanger sequencing and single molecule real-time sequencing to characterize and confirm the genotype.Results The proband, characterized as -α3.7 III heterozygous, showed microcytosis and hypochromic red cells, with a mean corpuscular volume of 78 fL and mean corpuscular hemoglobin of 25.4 pg. The proband’s mutation was inherited from her father, who had normal blood parameters.Conclusion We first identified the -α3.7 III subtype in China. Consequently, all -α3.7 subtypes have now been identified in the Chinese population. Therefore, attention should be paid to -α3.7 III in clinical prenatal diagnosis, given that commonly used methods such as gap-PCR may lead to misdiagnosis or missed diagnosis. |
| first_indexed | 2024-04-14T06:17:58Z |
| format | Article |
| id | doaj.art-993ecddceff644ce893b23b7861b27b4 |
| institution | Directory Open Access Journal |
| issn | 1607-8454 |
| language | English |
| last_indexed | 2024-04-14T06:17:58Z |
| publishDate | 2022-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj.art-993ecddceff644ce893b23b7861b27b42022-12-22T02:08:08ZengTaylor & Francis GroupHematology1607-84542022-12-0127182683010.1080/16078454.2022.2101913The -α3.7III subtype of α+-thalassemia was identified in ChinaXiuqin Bao0Jicheng Wang1Danqing Qin2Rui Zhang3Cuize Yao4Jie Liang5Kailing Liang6Li Du7Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaMedical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaMedical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaPrenatal Diagnosis Center, Huizhou Second Maternal and Child Health Care Hospital, Huizhou, People’s Republic of ChinaMedical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaMedical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaMedical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaMedical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaObjective The 3.7 kb deletion (-α3.7) in the α-globin cluster, which characterizes α+-thalassemia, has been reported to have a carrier rate of 4.78% in southern China. Three -α3.7 subtypes have been identified worldwide. However, the -α3.7 III subtype has not previously been identified in China. Herein, we reported identification of the -α3.7 III subtype in a Chinese patient.Methods We used gap-PCR and a liquid chip system to detect α-thalassemia mutations. Multiple ligation-dependent probe amplification was performed to detect the large deletion. We finally used Sanger sequencing and single molecule real-time sequencing to characterize and confirm the genotype.Results The proband, characterized as -α3.7 III heterozygous, showed microcytosis and hypochromic red cells, with a mean corpuscular volume of 78 fL and mean corpuscular hemoglobin of 25.4 pg. The proband’s mutation was inherited from her father, who had normal blood parameters.Conclusion We first identified the -α3.7 III subtype in China. Consequently, all -α3.7 subtypes have now been identified in the Chinese population. Therefore, attention should be paid to -α3.7 III in clinical prenatal diagnosis, given that commonly used methods such as gap-PCR may lead to misdiagnosis or missed diagnosis.https://www.tandfonline.com/doi/10.1080/16078454.2022.2101913-α3.7 subtypes-α3.7 IIImicrocytosis and hypochromic red cellsChinese populationsingle molecule real time sequencing |
| spellingShingle | Xiuqin Bao Jicheng Wang Danqing Qin Rui Zhang Cuize Yao Jie Liang Kailing Liang Li Du The -α3.7III subtype of α+-thalassemia was identified in China Hematology -α3.7 subtypes -α3.7 III microcytosis and hypochromic red cells Chinese population single molecule real time sequencing |
| title | The -α3.7III subtype of α+-thalassemia was identified in China |
| title_full | The -α3.7III subtype of α+-thalassemia was identified in China |
| title_fullStr | The -α3.7III subtype of α+-thalassemia was identified in China |
| title_full_unstemmed | The -α3.7III subtype of α+-thalassemia was identified in China |
| title_short | The -α3.7III subtype of α+-thalassemia was identified in China |
| title_sort | α3 7iii subtype of α thalassemia was identified in china |
| topic | -α3.7 subtypes -α3.7 III microcytosis and hypochromic red cells Chinese population single molecule real time sequencing |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2022.2101913 |
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