Aa
Information request
I am a 41yr old women living in United Kingdom ,i have been very ill for 3 mths.A month ago a fbc test came back a little out of sinc so my GP ordered a ferritin test which came back at 262ug/l uk ranges are (13-150) my iron saturation is 68.5 (16.0-52.0) we have sent off for an HFE gene test, which because heamochromatosis is so rare in th UK will take at least 4 weeks as they have to have enough to load the machine !!!!.
My GP thinks this is a red herring,can you tell me are there anythings that could cause these levels other than HH ?
i would be very grateful for a reply.
Yours sincerely,
Donna Rounsevell
My GP thinks this is a red herring,can you tell me are there anythings that could cause these levels other than HH ?
i would be very grateful for a reply.
Yours sincerely,
Donna Rounsevell
Yes, this person has had prexisting mental problems.. Some they where able to control, some they have been able to live with, you can say.. Now, total meltdown.. Not sure, as I have not talked with them in a few days..
As for the disability, your a dead ringer!!!
As for the disability, your a dead ringer!!!
But it's not big. It's not big at all. It's very, very tiny and it and it has a little tinkling bell around its neck and it moos.
I have a question for everyone. I have read all the inserts, and all the pamphlets on the tx drugs.. I am wondering, if the drugs can have such an effect over ones mind, that they go into a complete delusional state. Unable to distinguish the difference between reality, and what their mind is creating.. I ask, as someone close to me might be effected. I believe the meds have created a complete "meltdown" of mind functions. I am concerned, as I believe this person has lost their grasp on reality. The condition might have been present before tx, but suppressed by meds, or holistic approaches, but has taken over now.
Has anyone ever seen a study, or trial, or any documentation that would suggest this is possible?? Please, any feedback would be greatly appreciated.. And no, this is not directed at Rev..Just want ed to make that clear, before people go jumping to conclusions..
Has anyone ever seen a study, or trial, or any documentation that would suggest this is possible?? Please, any feedback would be greatly appreciated.. And no, this is not directed at Rev..Just want ed to make that clear, before people go jumping to conclusions..
Delusional, I would say so.. The person has been diagnosed with mental problems, and gets SSI for mental disability.. You should file for the same thing.. This person uses the disability for everything.. They can go into a court room, scream obsenitys, and just tell the judge that they don't understand..They can not be held accountable for their actions, or comments... Works wonders.
No, but they have been known to loose their mind, on many occasions. Never diagnosed with psyhcosis, but manic depressive disorder.. One minute happy, next crying, then happy, then suicidal.. You get the picture..
Now, this person I believe can not grasp reality.. They have come up with every imaginable fantasy of reality and twist on reality, and they truely believe it.. They have referred to suicide, and I have not heard from this person in two days.. This person is also very aggressive, and attempted to kill a puppy after it pissed on the carpet. I informed their Dr, and the Dr is aware. Because of HIPPA BS, I don't know what happened.. I just know, that this person is not right, and is capable of doing something harmful to themselve, or someone else.. Thanks for the link..
Really, you should look into the disability thing, you would get it no problem..LOL!!!
HH = Hereditary Hemochromatosis.
Hemochromatosis is NOT rare in the UK. It is very common, especially in the UK. What is rare for HH is for it to have a negative effect on a female until after menopause. Just because this is rare, doesn't mean it won't happen. The iron needs to be depleted with phlebotomies until the ferritin is normal. Iron is a heavy metal and is toxic. It will cross the brain/blood barrier.
HH isn't anything to play around with. It can and will kill you if left untreated. My husband has it and 3 male cousins that I am aware of. One almost died before being diagnosed. It took him 14 months at a pint of blood a week to get it right. He still has to tx monthly.
Hemochromatosis is NOT rare in the UK. It is very common, especially in the UK. What is rare for HH is for it to have a negative effect on a female until after menopause. Just because this is rare, doesn't mean it won't happen. The iron needs to be depleted with phlebotomies until the ferritin is normal. Iron is a heavy metal and is toxic. It will cross the brain/blood barrier.
HH isn't anything to play around with. It can and will kill you if left untreated. My husband has it and 3 male cousins that I am aware of. One almost died before being diagnosed. It took him 14 months at a pint of blood a week to get it right. He still has to tx monthly.
I hope this article answers some of your questions:
Common Heterozygous Hemochromatosis Gene Mutations Are Risk Factors for Inflammation and Fibrosis in Chronic Hepatitis C
Posted 08/17/2004
Andreas Geier; Michael Reugels; Ralf Weiskirchen; Hermann E. Wasmuth; Christoph G. Dietrich; Elmar Siewert; Carsten Gartung; Johann Lorenzen; Anja K. Bosserhoff; Marc Brügmann; Axel M. Gressner; Siegfried Matern; Frank Lammert
Abstract and Introduction
Abstract
Background: Chronic hepatitis C is frequently associated with increased hepatic iron stores. It remains controversial whether heterozygous mutations of hemochromatosis genes affect fibrosis progression. Therefore our aim was to assess associations between HFE mutations and hepatic inflammation and stage of fibrosis in German hepatitis C patients.
Methods: Liver biopsies from 166 patients were scored for inflammatory activity (A0-4) and hepatic fibrosis (F0-4). Gene mutations were determined by LightCycler, restriction fragment length polymorphism analysis, or direct sequencing.
Results: The frequencies of common HFE mutations C282Y and H63D are 4.2% and 21.3%, whereas the recently described S65C substitution and the Y250X mutation in the transferrin receptor 2 gene are very rare. In regression analysis, heterozygous carriers of C282Y or H63D mutations display significantly (P<0.05) higher inflammatory activities and more advanced fibrosis than patients without mutations. For C282Y heterozygous patients, the odds ratios for marked inflammatory activity (A2-4) and advanced liver fibrosis or cirrhosis (F2-4) are 4.9 and 4.6, respectively, compared with patients carrying homozygous wild-type alleles. C282Y mutations are associated with significantly (P<0.05) increased serum iron and aminotransferase levels, whereas H63D heterozygotes display higher transferrin saturation, serum iron, and ferritin concentrations compared to wild-type (P<0.01).
Conclusions: Common heterozygous hemochromatosis mutations are associated with higher grades of inflammation and more severe hepatic fibrosis. Our findings support a role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C.
Introduction
Progressive hepatic fibrosis and cirrhosis develops in 20-30% of patients with chronic hepatitis C virus (HCV) infection.[1] In epidemiological studies, several host factors such as higher age at the time point of infection, excessive daily alcohol consumption, and male gender are independent risk factors associated with an accelerated progression of fibrosis.[2] However, host genetic factors influencing fibrogenesis may also account for some of the variability in disease progression among individual patients. Consistent with this hypothesis, associations have been observed between polymorphisms of the gene encoding transforming growth factor ß1 and the progression of hepatic fibrosis in patients with chronic hepatitis C.[1,3] Other case-control studies correlated progressive liver disease to variants of the genes encoding tumor necrosis factor α, the transporter associated with antigen processing 2, angiotensinogen, myeloperoxidase, microsomal epoxide hydrolase, the LDL receptor, and apolipoprotein E4.[4,5]
Mild-to-moderate iron overload is common among patients with chronic hepatitis C.[6-8] Furthermore, HCV-infected patients with stainable iron in liver biopsies showed enhanced liver fibrosis compared with controls without detectable iron.[9] Hence, mutations in hemochromatosis genes are among the most likely genetic risk factors to affect the severity of hepatic fibrosis.
Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by progressive iron accumulation and multi-organ dysfunction. Three common missense mutations in the HFE gene have been identified in patients with HH.[10,11] Overall, 85-90% of patients with clinical features of HH carry the homozygous C282Y missense mutation (G to A at nucleotide 845) that disrupts a critical disulfide bond in the α3 domain of the HFE protein and abrogates binding to ß2-microglobulin.[10,11] A second mutation H63D (C to G at nucleotide 187) located in the α1 domain was not associated with the same degree of iron loading as C282Y.[11] The third mutation S65C is considered to be a rather neutral polymorphism.[12-15] In addition, rare mutations in other genes controlling iron metabolism like the signaling molecule hepcidin (HAMP), the transferrin receptor 2 (TFR2), and the intestinal iron transporter ferroportin 1 (SLC40A1) have been identified in adult patients with HH (a.k.a. types 2B, 3, and 4, respectively).[16,17]
Iron is commonly believed to promote liver fibrosis as a result of oxidative stress upon lipid peroxidation with subsequent production of free oxygen radicals.[18,19] The mechanism by which iron accumulates in livers infected with chronic HCV has not yet been established. Whether iron accumulation is the primary cause or a secondary result of liver injury is still unclear.[20] However, the coexistence of hemochromatosis gene mutations represents another possible explanation. Our aim now was to assess the association of common and rare HFE mutations with hepatic inflammation and stage of fibrosis in a cohort of German patients with chronic HCV infection.
Section 1 of 4
Next Page: Patients and Methods
Andreas Geier;1 Michael Reugels;1 Ralf Weiskirchen;2 Hermann E. Wasmuth;1 Christoph G. Dietrich;1 Elmar Siewert;1 Carsten Gartung;1 Johann Lorenzen;3 Anja K. Bosserhoff;3,4 Marc Brügmann;5 Axel M. Gressner;2 Siegfried Matern;1 Frank Lammert1
1Department of Medicine III, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany; 2Institute of Clinical Chemistry and Pathobiochemistry, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany, 3Institute of Pathology, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany; 4Institute of Pathology, University of Regensburg, Regensburg, Germany; 5Institute of Medical Psychology, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany
Liver Int 24(4):285-294, 2004.
Common Heterozygous Hemochromatosis Gene Mutations Are Risk Factors for Inflammation and Fibrosis in Chronic Hepatitis C
Posted 08/17/2004
Andreas Geier; Michael Reugels; Ralf Weiskirchen; Hermann E. Wasmuth; Christoph G. Dietrich; Elmar Siewert; Carsten Gartung; Johann Lorenzen; Anja K. Bosserhoff; Marc Brügmann; Axel M. Gressner; Siegfried Matern; Frank Lammert
Abstract and Introduction
Abstract
Background: Chronic hepatitis C is frequently associated with increased hepatic iron stores. It remains controversial whether heterozygous mutations of hemochromatosis genes affect fibrosis progression. Therefore our aim was to assess associations between HFE mutations and hepatic inflammation and stage of fibrosis in German hepatitis C patients.
Methods: Liver biopsies from 166 patients were scored for inflammatory activity (A0-4) and hepatic fibrosis (F0-4). Gene mutations were determined by LightCycler, restriction fragment length polymorphism analysis, or direct sequencing.
Results: The frequencies of common HFE mutations C282Y and H63D are 4.2% and 21.3%, whereas the recently described S65C substitution and the Y250X mutation in the transferrin receptor 2 gene are very rare. In regression analysis, heterozygous carriers of C282Y or H63D mutations display significantly (P<0.05) higher inflammatory activities and more advanced fibrosis than patients without mutations. For C282Y heterozygous patients, the odds ratios for marked inflammatory activity (A2-4) and advanced liver fibrosis or cirrhosis (F2-4) are 4.9 and 4.6, respectively, compared with patients carrying homozygous wild-type alleles. C282Y mutations are associated with significantly (P<0.05) increased serum iron and aminotransferase levels, whereas H63D heterozygotes display higher transferrin saturation, serum iron, and ferritin concentrations compared to wild-type (P<0.01).
Conclusions: Common heterozygous hemochromatosis mutations are associated with higher grades of inflammation and more severe hepatic fibrosis. Our findings support a role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C.
Introduction
Progressive hepatic fibrosis and cirrhosis develops in 20-30% of patients with chronic hepatitis C virus (HCV) infection.[1] In epidemiological studies, several host factors such as higher age at the time point of infection, excessive daily alcohol consumption, and male gender are independent risk factors associated with an accelerated progression of fibrosis.[2] However, host genetic factors influencing fibrogenesis may also account for some of the variability in disease progression among individual patients. Consistent with this hypothesis, associations have been observed between polymorphisms of the gene encoding transforming growth factor ß1 and the progression of hepatic fibrosis in patients with chronic hepatitis C.[1,3] Other case-control studies correlated progressive liver disease to variants of the genes encoding tumor necrosis factor α, the transporter associated with antigen processing 2, angiotensinogen, myeloperoxidase, microsomal epoxide hydrolase, the LDL receptor, and apolipoprotein E4.[4,5]
Mild-to-moderate iron overload is common among patients with chronic hepatitis C.[6-8] Furthermore, HCV-infected patients with stainable iron in liver biopsies showed enhanced liver fibrosis compared with controls without detectable iron.[9] Hence, mutations in hemochromatosis genes are among the most likely genetic risk factors to affect the severity of hepatic fibrosis.
Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by progressive iron accumulation and multi-organ dysfunction. Three common missense mutations in the HFE gene have been identified in patients with HH.[10,11] Overall, 85-90% of patients with clinical features of HH carry the homozygous C282Y missense mutation (G to A at nucleotide 845) that disrupts a critical disulfide bond in the α3 domain of the HFE protein and abrogates binding to ß2-microglobulin.[10,11] A second mutation H63D (C to G at nucleotide 187) located in the α1 domain was not associated with the same degree of iron loading as C282Y.[11] The third mutation S65C is considered to be a rather neutral polymorphism.[12-15] In addition, rare mutations in other genes controlling iron metabolism like the signaling molecule hepcidin (HAMP), the transferrin receptor 2 (TFR2), and the intestinal iron transporter ferroportin 1 (SLC40A1) have been identified in adult patients with HH (a.k.a. types 2B, 3, and 4, respectively).[16,17]
Iron is commonly believed to promote liver fibrosis as a result of oxidative stress upon lipid peroxidation with subsequent production of free oxygen radicals.[18,19] The mechanism by which iron accumulates in livers infected with chronic HCV has not yet been established. Whether iron accumulation is the primary cause or a secondary result of liver injury is still unclear.[20] However, the coexistence of hemochromatosis gene mutations represents another possible explanation. Our aim now was to assess the association of common and rare HFE mutations with hepatic inflammation and stage of fibrosis in a cohort of German patients with chronic HCV infection.
Section 1 of 4
Next Page: Patients and Methods
Andreas Geier;1 Michael Reugels;1 Ralf Weiskirchen;2 Hermann E. Wasmuth;1 Christoph G. Dietrich;1 Elmar Siewert;1 Carsten Gartung;1 Johann Lorenzen;3 Anja K. Bosserhoff;3,4 Marc Brügmann;5 Axel M. Gressner;2 Siegfried Matern;1 Frank Lammert1
1Department of Medicine III, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany; 2Institute of Clinical Chemistry and Pathobiochemistry, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany, 3Institute of Pathology, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany; 4Institute of Pathology, University of Regensburg, Regensburg, Germany; 5Institute of Medical Psychology, University Hospital Aachen, Aachen University (RWTH), Aachen, Germany
Liver Int 24(4):285-294, 2004.
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