منابع مشابه
Hemochromatosis-related mutation detection.
To the Editor: In her recent letter to BLOOD, Dr Lynas reports the development of a ‘‘cheaper and more rapid polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) technique’’1 for detection of mutations in HFE,2 the candidate gene for hemochromatosis. The PCR-RFLP method discussed by Dr Lynas uses Rsa I and Bcl I to cleave products amplified using primers designed by F...
متن کاملHemochromatosis, Erythrocytosis and the JAK2 p.V617F Mutation
Hereditary hemochromatosis (HH) is an inherited iron overload disorder, particularly prevalent in Irish and Scandinavian populations (1), characterised by abnormal iron metabolism, leading to excess iron deposition in the parenchymal cells of the liver, heart, and endocrine organs. HH is commonly associated with mutations in the HFE gene and in other genes such as HJV, that regulate the biology...
متن کاملIron absorption in carriers of the C282Y hemochromatosis mutation.
Hereditary hemochromatosis is a disorder of iron homeostasis in which the body iron content may be greatly increased. Most patients with hereditary hemochromatosis are homozygous for the C282Y mutation of the HFE gene. Because the iron content of the body is regulated by modulation of iron absorption, the increased body iron of those who are homozygous for the C282Y mutation must be due to enha...
متن کاملPreeclampsia and the C282Y mutation in the hemochromatosis (HFE) gene.
To the Editor: The hemochromatosis (HFE) gene encodes the HFE protein, a transmembrane glycoprotein that is implicated in the modulation of iron uptake from the diet (1 ). The C282Y mutation in this gene is known to be associated with moderately increased serum iron indices. Recently, several studies have described an association between increased maternal iron status and an unfavorable pregnan...
متن کاملGene Mutation Efficient Large - Scale Screening for the Hemochromatosis Susceptibility
Massimo Clementi Patrizia Bagnarelli Department of Biomedical Sciences Institute of Microbiology University of Trieste University of Ancona Trieste, Italy Ancona, Italy REFERENCE Elena Santagostino 1. Vicenzi E, Bagnarelli P, Santagostino E, Ghezzi S, Alfano Alessandro Gringeri M, Sinnone MS, Fabio G, Turchetto L, Moretti GL, Lazzarin A, ‘‘A. Bianchi Bonomi’’ Hemophilia and Thrombosis Center Ma...
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ژورنال
عنوان ژورنال: Blood
سال: 1998
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v91.7.2620