Fanconi anaemia in South Africa: Past present and future
| Autor: | C Feben, T Wainstein, J Kromberg, F Essop, A Krause |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | South African Medical Journal, Vol 108, Iss 5, Pp 393-398 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2078-5135 0256-9574 |
| DOI: | 10.7196/SAMJ.2018.v108i5.13004 |
| Popis: | Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA. The early diagnosis of FA is important and provides improved opportunities for early intervention, but remains challenging. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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