Abstract
Caucasian South African patients with multiple sclerosis (MS) were screened for the most common hereditary haemochromatosis (HH) mutations, H63D and C282Y, in order to determine the impact of iron overload on clinical outcome of MS. DNA screening for mutations H63D and C282Y in 118 apparently unrelated MS patients did not reveal significant differences in allele frequencies in comparison with a control group from the same population. Of 17 MS patients heterozygous for C282Y, 3 had below normal and none had above normal transferrin saturation levels. One of the index MS patients, and subsequently also her sister who also has MS, tested positive for two copies of mutation C282Y. Determination of iron status revealed high serum ferritin and transferrin saturation levels in both patients. However, the index patient, being unaware of her C282Y status, had received treatment for iron deficiency in the past and her MS symptoms were less severe than those of her sister who has been wheelchair bound for the past 12 years and who did not take iron supplements. Lack of clinical manifestation of HH without any signs of organ damage in the C282Y homozygous MS patients is in accordance with a role of iron dysregulation in the aetiology of MS.
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Acknowledgements
The first two authors contributed equally to the study. The University of Stellenbosch and the Harry and Doris Crossley Foundation supported the study financially. The National Multiple Sclerosis Society of South Africa is acknowledged for distribution of questionnaires to MS patients and data collection. Study participants and their families are acknowledged for their willingness and cooperation to participate in this study. Dr G de Jong, Division of Human Genetics, University of Stellenbosch, is thanked for helpful discussion and support. Drs F. Badenhorst (Panorama Medi-clinic) and Dr GA Prinsloo (Wellington) are thanked for clinical assessment and information of the index patient and her sister. RN Rooney is acknowledged for her insight which led to the initiation of the study on the genetics of multiple sclerosis in South Africa.
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Kotze, M.J., de Villiers, J.N.P., Warnich, L. et al. Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis. Metab Brain Dis 21, 105–116 (2006). https://doi.org/10.1007/s11011-006-9015-4
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DOI: https://doi.org/10.1007/s11011-006-9015-4