Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene

Altès, Albert; Bach, Vanessa; Ruiz, Angels; Esteve, Anna; Felez, Jordi; Remacha, Angel F.; Sardà, M. Pilar; Baiget, Montserrat; Altès, Albert; Sardà, M Pilar
October 2009
Annals of Hematology;Oct2009, Vol. 88 Issue 10, p951
Academic Journal
journal article
Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene. Nevertheless, penetrance of the disease is very variable. In some patients, penetrance can be mediated by concomitant mutations in other iron master genes. We evaluated the clinical impact of hepcidin (HAMP) and hemojuvelin mutations in a cohort of 100 Spanish patients homozygous for the C282Y mutation of the HFE gene. HAMP and hemojuvelin mutations were evaluated in all patients by bidirectional direct cycle sequencing. Phenotype-genotype interactions were evaluated. A heterozygous mutation of the HAMP gene (G71D) was found in only one out of 100 cases. Following, we performed a study of several members of that family, and we observed several members had a digenic inheritance of the C282Y mutation of the HFE gene and the G71D mutation of the HAMP gene. This mutation in the HAMP gene did not modify the phenotype of the individuals who were homozygous for the C282Y mutation. One other patient presented a new polymorphism in the hemojuvelin gene, without consequences in iron load or clinical course of the disease. In conclusion, HAMP and hemojuvelin mutations are rare among Spanish HH patients, and their impact in this population is not significant.


Related Articles

  • Further Improvements to Linear Mixed Models for Genome-Wide Association Studies. Widmer, Christian; Lippert, Christoph; Weissbrod, Omer; Fusi, Nicolo; Kadie, Carl; Davidson, Robert; Listgarten, Jennifer; Heckerman, David // Scientific Reports;11/14/2014, p1 

    We examine improvements to the linear mixed model (LMM) that better correct for population structure and family relatedness in genome-wide association studies (GWAS). LMMs rely on the estimation of a genetic similarity matrix (GSM), which encodes the pairwise similarity between every two...

  • The development of a genetic map for meadowfoam comprised of amplified fragment length polymorphisms. Katengam, S.; Crane, J.M.; Knapp, S.J. // Theoretical & Applied Genetics;Jan2002, Vol. 104 Issue 1, p92 

    Limnanthes alba Benth. (meadowfoam), a diploid (x=5) winter annual, produces novel very long-chain seed oils (C20 and C22) with less than 2% saturated fatty acids. The first genetic map of meadowfoam, a recently domesticated species, is described herein. Two phenotypically diverse inbred lines,...

  • Multiplexed genotyping of ABC transporter polymorphisms with the Bioplex suspension array. Seok Hwee Koo; Tan Ching Ong; Kok Ting Chong; Guat Lay Lee, Caroline; Fook Tim Chew; Jon Deoon Lee, Edmund // Biological Procedures Online;2008, Vol. 10 Issue 1, p27 

    The article discusses a study on the development of a consolidated bead-based genotyping platform, the Bioplex suspension array for simultaneous detection of multiple single nucleotide polymorphisms (SNPs) of the ATP-binding cassette transporters. It cites the influence of genetic polymorphisms...

  • Five alleles correlated with prostate cancer risk. Shafer, Emily // Hem/Onc Today;2/25/2008, Vol. 9 Issue 3, p34 

    The article focuses on a study conducted by researchers from Wake Forest University in Winston-Salem, North Carolina which identified five single-nucleotide polymorphisms in different chromosomal regions that have a significant association with prostate cancer. The researchers examined 3,161 men...

  • iron storage disease.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p1233 

    A definition of the term "iron storage disease," which means hemochromatosis, is presented.

  • Segregation Analyses of Partial Self-Incompatibility in Self and Cross Progeny of Solanum carolinense Reveal a Leaky S-Allele. Mena-Ali, Jorge I.; Stephenson, Andrew G. // Genetics;Sep2007, Vol. 177 Issue 1, p501 

    Natural populations of self-incompatible species often exhibit marked phenotypic variation among individuals in the strength of self-incompatibility (SI). In previous studies, we found that the strength of the SI response in Solanum carolinense, a weedy invasive with RNase-mediated SI, is a...

  • Mapping dynamic QTL for plant height in triticale. Würschum, Tobias; Wenxin Liu; Busemeyer, Lucas; Tucker, Matthew R.; Reif, Jochen C.; Weissmann, Elmar A.; Hahn, Volker; Ruckelshausen, Arno; Maurer, Hans Peter // BMC Genetics;2014, Vol. 15 Issue 1, p1 

    Background Plant height is a prime example of a dynamic trait that changes constantly throughout adult development. In this study we utilised a large triticale mapping population, comprising 647 doubled haploid lines derived from 4 families, to phenotype for plant height by a precision...

  • Homozygous G320V Mutation in the HJV Gene Causing Juvenile Hereditary Haemochromatosis Type A. A Case Report. Militaru, Mariela S.; Popp, Radu A.; Trifa, Adrian P. // Journal of Gastrointestinal & Liver Diseases;Jun2010, Vol. 19 Issue 2, p191 

    While classical hereditary haemochromatosis, usually associated with mutations in the HFE gene, has an adult age onset and a long, progressive evolution, juvenile haemochromatosis, most often associated with mutations in the HJV gene, is a more severe, rapidly progressive condition and has an...

  • Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload. McCune, C. Anne; Al-Jader, Layla N.; May, Alison; Hayes, Sara L.; Jackson, Helen A.; Worwood, Mark // Human Genetics;Dec2002, Vol. 111 Issue 6, p538 

    In northern Europe, about 90% of patients with hereditary haemochromatosis (HH) are homozygous for a single mutation (C282Y) of the HFE gene and approximately 1 in 150 people in the general population carries this genotype. However, the clinical significance of HFE mutations remains uncertain,...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics