In this study, we report on a 6-year survey of HFE gene test– based diagnosis of hemochromatosis. The pos- itive tests confirming hemochromatosis were 89.7% in indi- viduals diagnosed before HFE gene testing and around 30% among the individuals subjected to HFE gene test for hemo- chromato...
After HFE gene discovery, a direct gene test was systematically performed on individuals under clinical suspicion of hemochromatosis because of symptoms or signs indicative of iron overload evi- denced at the time of a medical advice or on a cascade family screening. From 1997 to mid-2002, ...
ARTICLE Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis Subhashini Chandrasekharan, PhD1, Emily Pitlick, JD2, Christopher Heaney, BA1, and Robert Cook-Deegan, MD1 Abstract: Hereditary hemochromatosis is an iron metabolism disorder that leads ...
We characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis and IRon Overload Screening (HEIRS) Study using health questionnaire respons... JAMES C. BARTON,RONALD T. ACTON,CATHERINE LEIENDECKER-FOSTER,... - 《Genetic Testing》 被引量: 14发表: 2007年 加载更多来源...
Despite a major improvement in the chelation therapy and supportive care, the major cause of death in these patients is cardiac failure due to secondary hemochromatosis. The goal of globin gene therapy is to offer a potentially curative treatment to patients lacking a matched, related donor, based...
A large variety of mutations within the genes encoding hepcidin ( HAMP ) and hemojuvelin ( HJV ) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from...
for randomization of the genotypes in relation to each other. Examples are seen where it is clear that an association is present between two different genetic loci; with the HLA system, this has been suggested for insulin-dependent diabetes mellitus, hemochromatosis and congenital adrenal hyperplasia...
Information on an article about folate-utilizing enzyme methylenetetrahydrofolate reductase; Description on the protein produced by the autosomal recessive gene of hemochromatosis; Example of a gene mutation altering a protein involved in the transport and delivery of a micronutrient. 关键词: folic acid...
Figure 1 shows the chromosomes related to disorders that have been confirmed, making these disorders an excellent target for gene editing. Single-gene diseases like sickle cell anemia, Tay-Sachs, Tay-Sachs, and hemochromatosis can be treated, as well as multiple gene mutation diseases, including ...
The carrier frequency for mutations in HFE, one of the genes responsible for hemochromatosis, is one in 10 in individuals of Celtic ancestry. As another example, heterozygosity for a mutation in F11 associated with deficiency of coagulation factor 11 causes a bleeding disorder of variable severity....