Severe intrauterine anemia: a new form of ɛγγδβ thalassemia presenting in utero in a Norwegian family
| Autor: | Anne Brantberg, Sturla H. Eik-Nes, Nigel Roberts, Chris Fisher, William G. Wood |
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| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: | |
| Zdroj: | Haematologica, Vol 94, Iss 8 (2009) |
| Druh dokumentu: | article |
| ISSN: | 0390-6078 1592-8721 |
| DOI: | 10.3324/haematol.2009.007534 |
| Popis: | Severe intrauterine anemia of unknown cause presents a diagnostic challenge. We describe a Norwegian case, managed successfully by intrauterine transfusions, that further investigations demonstrated to be due to a rare type of thalassemia. A deletion of the 5’ end of the β globin gene cluster was characterized, the breakpoints sequenced and a new type of ɛγγδβ thalassemia identified. This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population. |
| Databáze: | Directory of Open Access Journals |
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