| Autor: |
Zhi-Yang Guan, Ze-Yan Zhong, Hai-Lin He, Dan Chen, Guo-Xing Zhong, Kun-Xiang Yang, Jian-Hong Chen |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 4, Pp 763-765 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1028-4559 |
| DOI: |
10.1016/j.tjog.2021.05.031 |
| Popis: |
Objective: We report a rare mutation on the α2-globin gene, HBA2: c.91_93delGAG and its potential functions. Case Report: We mainly described four patients with hemoglobin (Hb) H disease caused by the rare mutation and the SEA deletion but diversity in clinical presentation. Two had survived to adulthood with normal physical and mental development, except for mild anemia. However, two were children, who had more severe clinical manifestations. One child had developmental disorders of speech and language and mild growth retardation, and the other child suffered from severe hemolytic crises precipitated by infection and received blood transfusion. Conclusion: This study is of great significance for clinicians to provide genetic counseling to couples at-risk of having offspring with Hb H disease and let them make the pregnancy decision, particularly reduce the occurrence of severe Hb H disease. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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