Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis

Powell, Lawrie W., Dixon, Jeannette L. and Hewett, David G. (2005) Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis. Best Practice and Research Clinical Haematology, 18 2: 221-234. doi:10.1016/j.beha.2004.10.001


Author Powell, Lawrie W.
Dixon, Jeannette L.
Hewett, David G.
Title Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis
Journal name Best Practice and Research Clinical Haematology   Check publisher's open access policy
ISSN 1521-6926
1532-1924
Publication date 2005-06
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1016/j.beha.2004.10.001
Volume 18
Issue 2
Start page 221
End page 234
Total pages 14
Place of publication London , United Kingdom
Publisher Bailliere Tindall
Language eng
Subject 11 Medical and Health Sciences
Abstract Hereditary haemochromatosis is a primary inherited disorder of iron metabolism leading to progressive iron loading of parenchymal cells of the liver and other organs with diverse clinical manifestations, including cirrhosis, diabetes and skin pigmentation. This chapter will focus on HFE-associated hereditary haemochromatosis, which accounts for approximately 90% of cases in Caucasian populations. Penetrance is incomplete, with variable clinical expression. The majority of cases demonstrate biochemical expression, but a much lower proportion develop advanced disease. Clinical disease—especially hepatic fibrosis—is related to the level of body iron stores, which is reflected primarily in the liver. The available evidence indicates that adequate screening and diagnostic strategies ensure that early case detection and treatment occur prior to the development of irreversible end-organ damage. The most cost-effective methods of early case detection are family (cascade) screening and evaluation of potential cases by primary care physicians with a high index of clinical suspicion.
Keyword Hereditary haemochromatosis
Iron overload
Serum ferritin
Transferrin saturation
Genetic screening
HFE gene
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Created: Thu, 17 Dec 2009, 08:30:52 EST by Ms Lynette Adams on behalf of School of Medicine