Hi Merlyn and Bethr,
I'm interested because I have been getting Porphyria symptoms for years, and there are now some indications that this might be underlying prob. re my "MS" --my dr and I are pursuing this once again--How it relates here is it is genetic, and is a heme problem, and can mean not enough iron, or iron not absorbed properly. My recent Iron tests were not done fasting, (now find it should be taken after at least 8 hr fasting) so will redo-but all near the low end of references, and TIBC was too low.
Dr explained this was probably due to the liver problems I have (but which came first, the porphyria, the liver damage, or the MS ??????)
Anyway, in researching, I just came across this article--I am tired, and might not be reading it correctly, but it involves hemachromatosis, and seems to indicate that ALL MS is an iron dysregulation problem--and might interest you.
Metab Brain Dis. 2006 Jul 19;: 16850257 (P,S,G,E,B) [Cited?] Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis.
[My paper] Maritha Kotze, J de Villiers, Louise Warnich, Stephen Schmidt, Jonathan Carr, Erna Mansvelt, Elba Fourie, Susan van Rensburg
Genecare Molecular Genetics (Pty) Ltd, Christiaan Barnard Memorial Hospital, 162 Longmarket Street, Cape Town, South Africa,
mjk@genecare.co.za.
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.
Keywords: c282y; haemochromatosy; iron; hereditary haemochromatosy; h63d; african patient; south african; multiple sclerosy; patient; african; sclerosy; hereditary; her; south;
