Fanconi Anaemia in South African Patients with Afrikaner Ancestry

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

The Cost of Nephroblastoma Treatment in South Africa: A Very Cost-Effective Investment with Guidelines for the Rest of Africa

Background. Nephroblastoma is one of the most common childhood malignancies in Africa; but with a survival rate significantly lower than in developed countries. In African countries with a small gross domestic product (GDP) per capita; the cost of treating nephroblastoma may be prohibitive. Objectives. To determine the direct costs of treatment of nephroblastoma in South Africa (SA) and to propose a more cost-effective approach to investigations and treatment for the disease in Africa. Methods. Data from 2000 - 2010 from two SA paediatric oncology units were retrospectively analysed. The costs included investigations; chemotherapy and radiotherapy; comparing early-v. advanced-stage disease. In both units; the nephroblastoma International Society of Paediatric Oncology (SIOP) protocol was used. Results. Stage I disease was the most common; followed by stage IV. The total cost of diagnosis; staging and treatment of stage I disease was ZAR9 304.97 (EUR882.80 or USD1 093.40); compared with a five-times higher cost for stage IV (ZAR48 293.62 (EUR4 581.9 or USD5 674.9)). Treating one patient averted more than 32 disability adjusted life years. The investigation and treatment of early- and advanced-stage disease is very cost-effective when compared with the local GDP per capita. Conclusion. The cost of investigation and treatment of nephroblastoma remains a challenge everywhere; but especially in Africa. However; it is a very cost-effective disease to treat and children in Africa should not be denied treatment