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World Health Organization : Year 1993 ; World Health Organization, Hereditary Disease Program Hf Fha, No. 93.2: Rewrite of a Joint World Health Organization Lhemochromatosis Foundation French Hemochromatosis Association Meeting on the Prevention Am Control of Hemochromatosis

By Pierre Brissot

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Book Id: WPLBN0000103312
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Reproduction Date: 2005

Title: World Health Organization : Year 1993 ; World Health Organization, Hereditary Disease Program Hf Fha, No. 93.2: Rewrite of a Joint World Health Organization Lhemochromatosis Foundation French Hemochromatosis Association Meeting on the Prevention Am Control of Hemochromatosis  
Author: Pierre Brissot
Volume:
Language: English
Subject: Health., Public health, Wellness programs
Collections: Medical Library Collection, World Health Collection
Historic
Publication Date:
Publisher: World Health Organization

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Brissot, P. (n.d.). World Health Organization : Year 1993 ; World Health Organization, Hereditary Disease Program Hf Fha, No. 93.2. Retrieved from http://cn.ebooklibrary.org/


Description
Medical Reference Publication

Excerpt
INTRODUCTION Genetic hemochromatosis (GB), also termed hereditary hernochromatosis (HH), is a disease characterized by iron excess especially in the liver. It is genetically transmitted as an autosomal recessive trait and principally determined by a gene located on the sixth chromosome near the A locus of HLA system. This definition, which does not imply substantial iron overload and - even less the existence of liver damage, covers all the territory between the unexpressed and the advanced forms of the disease. It does not exclude the influence of possible accessory genetic or environmental factors. The clinical and pathological entity corresponding to GH was first described by Trousseau (1865) and Troisier (1871) and the term hemochromatosis was later proposed by Von Recklinghausen. Sheldon, in 1935, proposed that GW was due to an inborn error of iron metabolism [102]. This concept was disputed by some authors, especially McDonald, but the discovery in 1975 by M. Simon et al 11041 of an association between some HLA antigens and GH followed by the evidence of a genetic linkage between the GH locus and HLA loci ultimately proved the hereditary nature of the disease. GH is one of the most frequent genetic disease in Caucasians. Indeed, its overall prevalence is greater than 1 Sbc and reaches 5%0 in some countries. Unlike many other genetic disorders, GH can be easily diagnosed, successfully treated if the patient is diagnosed in time and efficiently prevented among their relatives. Thus, public health strategies must take this disease into account, especially at a time when systematic iron supplementation in the diet is an issue in many countries.

Table of Contents
List of Contents rn 1. INTRODUCTION . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 2. GENETICS OF WEMOCHROMATOSIS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3 2.1 Mode of Inheritance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . : . . . . .3 2.2 Mapping of the RLA-Linked Gene . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .4 2.3 Is Bemochromatosis Really a Homogeneous Entity? . . . . . . . . . . . . . . . . . . . . . . 5 3. PHYSIO-PATHOLOGY OF GENETIC HEMOCHROMATOSIS . . . . . . . . . . . . . . . . . . . .6 3.1 Pathology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .6 3.2 The Biochemical Defect . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .6 3.2.1 The Intestinal Mucosal Cell . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .6 3.2.2 The Liver . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8 3.2.3 The Reticula-Endothelial (RE) System . . . . . . . . . . . . . . . . . . . . . . . .9 3.2.4 A Widespread Parenchymal Cell Defect ? . . . . . . . . . . . . . . . . . . . . . 10 4. DIAGNOSTIC CRITERIA FOR GENETIC HEMOCHROMATOSIS . . . . . . . . . . . . . . . . 10 4.1 Clinical Features . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .10 4.2 Biological Tests . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . I 2 4.3 Imaging Methods . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13 4.4 Liver Biopsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .13 4.5 Genetic Markers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .13 4.6 Quantitative Phlebotomy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 4.7 Diagnosis Strategy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 4.7.1 Affirmation of a Liver Iron Overload Compatible with GH . . . . . . . . . . . 14 4.7.2 Exclusion of Other Causes of 'Iron Overload . . . . . . . . . . . . . . . . . . . . 14

 
 



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