Show simple item record Feben, C. Haw, T. Stones, D. Jacobs, C. Sutton, C. Kromberg, J. Krause, A. 2019-09-12T08:20:17Z 2019-09-12T08:20:17Z 2017
dc.identifier.issn 1994-3032
dc.description Journal article published in the South African Journal of Child Health17;11(2):141-145 en_US
dc.description.abstract Background. Fanconi anaemia (FA) is a rare genetic disorder of impaired DNA repair that results in physical and haematological consequences in affected individuals. In South Africa (SA), individuals with Afrikaner ancestry are at an increased risk of inheriting disease-causing FA mutations, owing to the three common FANCA (FA, complementation group A) founder mutations present in this population subgroup. Objectives. To describe the physical phenotype of SA patients with FANCA mutations for the purpose of recommending appropriate care for affected individuals. Methods. A structured clinical examination and file-based review were used to evaluate the physical phenotype of 7 patients with compound heterozygous and homozygous FANCA founder mutations, and 1 patient with confirmed FANCA complementation analysis. Descriptive statistical analysis was used to determine the frequency of physical anomalies in Afrikaner patients and to compare the described phenotype to other FA cohorts, including a previously clinically characterised black SA FA cohort. Results. An earlier age of diagnosis of FA in Afrikaner patients, a high frequency of somatic anomalies and a higher-than-expected incidence of the VACTERL/H phenotype were noted. Conclusions. Based on our findings, recommendations for the care of FA patients with Afrikaner ancestry are made, including renal ultrasound evaluation at diagnosis and hearing screening. en_US
dc.format.extent 5 pages en_US
dc.language.iso en en_US
dc.publisher South African Journal of Child Health (SAJCH) en_US
dc.relation.requires Adobe Acrobat Reader en_US
dc.subject Fanconi anaemia en_US
dc.subject Afrikaner ancestry en_US
dc.subject Genetic disorder en_US
dc.subject.lcsh Anemia en_US
dc.subject.lcsh Blood -- Diseases en_US
dc.subject.lcsh Genetic disorders en_US
dc.title Fanconi anaemia in South African patients with Afrikaner ancestry en_US
dc.type Article en_US

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