| Autor: |
Hossein Jalali, Mohammad Reza Mahdavi, Mahan Mahdavi, Adeleh Abbasi |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Thalassemia Reports, Vol 12, Iss 3, Pp 51-54 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2039-4365 |
| DOI: |
10.3390/thalassrep12030010 |
| Popis: |
This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family. This variant gives rise to a previously undescribed haemoglobin variant that was undetectable by capillary haemoglobin electrophoresis (CE). This variant was detected in two cases in combination with β-globin mutation, and it does not seem to be associated with severe haematological abnormalities in the carriers. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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