دورية أكاديمية
The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review
| العنوان: | The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review |
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| المؤلفون: | Li Du, Danqing Qin, Jicheng Wang, Cuize Yao, Juan Zhu, Hao Guo, Tenglong Yuan, Jie Liang, Aihua Yin |
| المصدر: | Hematology, Vol 27, Iss 1, Pp 258-262 (2022) |
| بيانات النشر: | Taylor & Francis Group, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Diseases of the blood and blood-forming organs |
| مصطلحات موضوعية: | hemoglobin santa ana, hemoglobin variant, unstable hemoglobin, capillary electrophoresis, Diseases of the blood and blood-forming organs, RC633-647.5 |
| الوصف: | Hemoglobin Santa Ana [β88(F4)Leu→Pro (CTG > CCG) HBB: c.266T > C] is an unstable hemoglobin variant characterized by a substitution of the amino acid leucine by proline at the 88th position of the β-globin chain. We for the first time identified this hemoglobin variant in a Chinese patient by capillary electrophoresis (CE). The proband was an 8-year-old boy with chronic anemia, brown urine and splenomegaly. He had been affected by moderate anemia, twice approaching a severe degree, that was attributed to infection. The CE result revealed an abnormal hemoglobin peak at electrophoretic zone 4 that correspond to the hemoglobin Santa Ana peak, and a CTG > CCG mutation at codon 88 of the β-globin gene was confirmed by DNA sequencing. To avoid misdiagnosis and genetic risks, a literature review of other unstable hemoglobins that migrate similarly to the hemoglobin Santa Ana was performed. Our findings indicate that hemoglobin Santa Ana can be clearly separated by CE, with accurate diagnosis depending on molecular analysis. This information will be useful for providing appropriate genetic counselling and for prenatal diagnosis. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1607-8454 16078454 |
| Relation: | https://doaj.org/toc/1607-8454 |
| DOI: | 10.1080/16078454.2022.2035049 |
| URL الوصول: | https://doaj.org/article/845e0a4d8ed440a88959a6b1c84a7e99 |
| رقم الأكسشن: | edsdoj.845e0a4d8ed440a88959a6b1c84a7e99 |
| قاعدة البيانات: | Directory of Open Access Journals |
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Full Text Finder | تدمد: | 16078454 |
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| DOI: | 10.1080/16078454.2022.2035049 |