Fanconi anaemia in South Africa: Past, present and future

South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
Candice FebenAmanda Krause

Abstract

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.

Citations

Sep 1, 2018·Annual Review of Genomics and Human Genetics·Amanda KrauseMichèle Ramsay
Jun 13, 2020·Molecular Genetics & Genomic Medicine·Bronwyn DillonAmanda Krause
Jul 31, 2021·Case Reports in Endocrinology·Aida Al JabriAbeer Al Dossari

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