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Papel del estudio genético en el despistaje y el diagnóstico de la hemocromatosis hereditaria

by Blesa Salvatierra, Irene

Abstract (Summary)
ROL OF THE STUDY GENETIC IN THE SCRENING AND DIAGNOSTIC OF THE HEMOCHROMATOSIS HEREDITARY. Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism, continued absorption of iron despite increasing body iron overload and the excessive cellular iron levels, leads to tissue damage in liver, pancreas, heart, The diagnosis of HH is based on the demonstration of increased iron stores in the hepatic biopsy or mutations in the genetic test. Extensive studies of patients of European ancestry have disclosed a high prevalence for the C282Y mutation among patients with HH. Depending on the areas, affected individuals ranged from one in 300 to 2-5/1000 in Caucasian populations (4,5) Protocol Il: Objective: Determine the relation between the C282Y y H63D genetic mutations and iron stores in the hepatic biopsy. Patients: Seventy eight unrelated of spanish origin patients with hepatic biopsy and hepatic iron index (IHH), serum transferrin saturation above 50%, elevated ferritina concentration were tested for the HFE C282Y y H63D mutations The patients were divide in the three group using the IHH (group I >1,9; group 11 11,9; group 111<1). Methods: the HFE mutationts were determined using the primers and conditions developed by Feder et al. The iron in the liver biopsy was evaluated using the method described by Barry M. and Sherlock S. Results: In the group 1, 26 out of 31 (83.85%) patients had an HFE mutation related to HH, including 24 patients (77.4%) with C282Y homocygosity (W/HH) and two patients were compound heterozygotes (6.7%) (CY/HD), four cases (12,9%) were homozygotes for the H63D mutation (CC/DD).and one patient (3,22%) was heterozygotes for the H63D mutation, In the group 11, two out of 7 patients (28,57%) were homozygous for the C282Y mutation and two (28,57%) were compound heterozygotes (CY/HD), and three patients did show the wild type genotype (37.5%). including 2 with Porphyria Cutanea Tarda and 1 with juvenile Hemochromatosis. In the group III, none of 40 patients were homozygous for the C282Y mutation, only 4 of 40 patients (10%) were compound heterozygotes (CY/HD). Fifteen (37,5%) was heterozygotes for the H63D mutation and 17 out of 40 patients (42,5%) had a normal genotype. Statisitcal significant differences in iron overload were found in the different groups of HFE mutations. Homozygous patients for the C282Y mutation had the highest levels of Hll with significant differences with the other groups. Compound heterozygotes and patients with homozygosity for the H63D mutation had increased levels of Hll with respect to the control group (wild type and CC/HD). However, this increase was milder than in the case of the C282Y mutation. Conclusion: In our population the C282Y mutation was asociated with (83.3%) of HH (76.6% were homozygous and 6.7% compound heterozygotes). In conclusion, our study confirm the high proportion of the C282Y mutation detected in HH in our patients, and supports the potencial use of molecular genetic analysis as a confirmation test where there is clinical and bioquimical suspictinfthed isease.
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Bibliographical Information:

Advisor:Carlos Guarner Aguilar; Angel F. Remacha

School:Universitat Autónoma de Barcelona

School Location:Spain

Source Type:Master's Thesis

Keywords:417 departament de medicina

ISBN:

Date of Publication:12/19/2000

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