Use of HFE mutation analysis for hereditary hemochromatosis: the need for physician education in the translation of basic science to clinical practice.
BACKGROUND
Hereditary hemochromatosis (HH) is a common hereditary disorder of iron metabolism causing iron overload, organ failure, and malignancy. Preclinical diagnosis using HFE gene analysis followed by prophylactic phlebotomy can completely prevent the disease.


METHODS
We conducted a mail survey of all registered primary care physicians, gastroenterologists, and hematologists in Arkansas (n = 860) to determine utilization of HFE mutation analysis in clinical medicine a year after the new molecular test first became available.


RESULTS
Of 346 responding physicians (40%), 71 (21%) were aware of the test, 36 (10%) knew that the test was available in Arkansas, and 10 (3%) had used the test. One physician had used the test to screen first-degree relatives of a homozygous HH proband.


CONCLUSIONS
Because of poor utilization of the test, the discovery of the role of HFE mutations in HH has had minimal impact on clinical care in Arkansas.
Kohli
M
M
Department of Internal Medicine, John L. McClellan Memorial Veteran's Hospital and University of Arkansas for Medical Sciences, Little Rock, USA.
Schichman
S A
SA
Fink
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Zent
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CS
D001131:Arkansas; D001291:Attitude of Health Personnel; D016009:Chi-Square Distribution; D002983:Clinical Competence; D005194:Family Practice; D005762:Gastroenterology; D005805:Genes, MHC Class I / Q000235:genetics*; D005821:Genetic Techniques / Q000706:statistics & numerical data*; D005820:Genetic Testing; D006680:HLA Antigens / Q000032:analysis / Q000235:genetics*; D006405:Hematology; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008285:Major Histocompatibility Complex / Q000235:genetics*; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D010820:Physicians; D011320:Primary Health Care; D011795:Surveys and Questionnaires
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins