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Clinical Chemistry 51: 673, 2005; 10.1373/clinchem.2004.044925
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(Clinical Chemistry. 2005;51:673.)
© 2005 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Genetic Screening for Hemochromatosis: A Cautionary Tale

Jane Starczynski1, Laura Hooper1, Nageeb Ali1, Mark Hill1, Chris Fegan1 and Guy Pratt1,2,a

1 Department of Haematology, Birmingham Heartlands, and Solihull NHS Trust, Bordesley Green East, Birmingham, United Kingdom
2 Institute for Cancer Studies, University of Birmingham, Edgbaston, United Kingdom

aAddress correspondence to this author at: Department of Haematology, Birmingham Heartlands and Solihull NHS Trust, Bordesley Green East, Birmingham, B9 5SS, United Kingdom. Fax 44-121-7667530; e-mail guy.pratt@heartsol.wmids.nhs.uk.

The first 20% of the full text of this article appears below.


To the Editor:

Hemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. In the United Kingdom, more than 90% of patients with hereditary hemochromatosis are homozygous for the C282Y mutation of the HFE gene, but other single-nucleotide polymorphisms (SNPs) within the HFE gene, namely H63D and S65C, have also been associated with the hemochromatosis phenotype. Various PCR-based methods can detect these SNPs, including a multiplex PCR for the two common SNPs, C282Y and H63D (1). This method involves PCR-mediated site-directed mutagenesis for C282Y and H63D to create a BbrPI restriction site in the wild-type PCR products. The presence of polymorphic alleles for both C282Y and H63D abolishes the restriction site so that the mutated allele remains undigested.

Using . . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
A. Koeken, E. de Baar, L. Schrauwen, and C. Cobbaert
Presence of the Hemochromatosis S65C Mutation Leads to Failure of Amplification in a Multiplex C282Y/H63D PCR
Clin. Chem., September 1, 2007; 53(9): 1715 - 1715.
[Full Text] [PDF]


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