Hemochromatosis: Genetics, Pathophysiology, Diagnosis and by James C. Barton, Corwin Q. Edwards

By James C. Barton, Corwin Q. Edwards

As soon as thought of a unprecedented , hemochromatosis is now said as one of many most typical inherited issues, affecting one in 200 humans of Western Caucasian descent and within the U.S. by myself, over 1000000 humans. this is often the main complete medical reference but on hemochromatosis. The foreign group of ninety four authors from twelve international locations contains experts in inner drugs, hematology, hepatology, genetics, biochemistry, and molecular biology. In fifty seven in-depth chapters they conceal all points of pathophysiology, epidemiology, analysis and therapy. The textual content completely explains the most recent advancements within the genetics of the disease, together with sections on screening, diagnostic strategies, and medical problems. moreover, chapters think of social and moral concerns. With over 2 hundred illustrations--including forty colour plates--this is ultra-modern definitive source for all clinicians serious about the administration of hemochromatosis, and for scientists attracted to iron metabolism and iron overload.

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Extra resources for Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment

Example text

1. Pattern of inheritance of hemochromatosis (Mendelian autosomal recessive). I. One heterozygous and one normal parent; none of their offspring will be homozygous for the hemochromatosis allele, 50% will be heterozygous, and 50% will not have the hemochromatosis allele. II. Two heterozygous parents: 25% of their offspring will be homozygous, and 50% will be heterozygous for the hemochromatosis allele; 25% will not inherit the hemochromatosis allele. III. One homozygous and one normal parent: all offspring will be heterozygous for the hemochromatosis allele.

Milman One French study21 reported an increased prevalence of HLA-DRw6 in patients with hemochromatosis, whereas a Danish study29 found no association between HLA-DR antigens and hemochromatosis. The high frequency of HLA-A3 was initially described in the population of Brittany6, 7, 24, and is a common feature of hemochromatosis in Caucasians of European origin. In contrast, the frequencies of HLA-B7 and HLA-B14 are dependent on the geographic region. For example, the prevalence of HLA-B7 is high in Germany and Denmark, whereas the prevalence of HLA-B14 is low19, 28, 29.

In homozygotes, there was a deregulation of the absorptive mechanism, whereas heterozygotes had a preserved absorptive feedback mechanism similar to that of normal subjects. 89 assessed iron absorption in six patients with hemochromatosis and in five normal subjects. Iron absorption was inversely correlated to the serum ferritin concentration in both normal subjects and hemochromatosis patients, but was higher in relation to serum ferritin concentration among the latter. Analysis of mucosal iron kinetics showed that the rate constant for mucosal iron uptake was inversely correlated to the serum ferritin concentration, and that there was no significant difference between hemochromatosis patients and normal subjects.

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