title: Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis.
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.
authors.affiliation: Genecare Molecular Genetics Pty Ltd, Christiaan Barnard Memorial Hospital, 162 Longmarket Street, Cape Town, South Africa. mjk@genecare.co.za
authors.forename: Maritha J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: J Nico P
authors.initials: JN
authors.lastname: de Villiers
authors.forename: Louise
authors.initials: L
authors.lastname: Warnich
authors.forename: Stephen
authors.initials: S
authors.lastname: Schmidt
authors.forename: Jonathan
authors.initials: J
authors.lastname: Carr
authors.forename: Erna
authors.initials: E
authors.lastname: Mansvelt
authors.forename: Elba
authors.initials: E
authors.lastname: Fourie
authors.forename: Susan J
authors.initials: SJ
authors.lastname: van Rensburg
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001772:Blood Cell Count; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D019587:Dietary Supplements; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000097:blood* / Q000150:complications / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000097:blood* / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D010641:Phenotype; D013019:South Africa; D014168:Transferrin / Q000378:metabolism; D044465:White People
chemical_list: D014168:Transferrin; D004247:DNA; D005293:Ferritins; D007501:Iron