Toggle Main Menu Toggle Search

Open Access padlockePrints

Interpretation of iron studies in adolescent haemochromatosis

Lookup NU author(s): Dr John Beesley

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

We report the case of a 14-year-old girl who originally presented at the age of eight with a history of bloody stools, abdominal pain and weight loss. Initial iron studies showed raised serum iron and transferrin saturation but low ferritin and were interpreted as consistent with iron deficiency under treatment. As she had not taken any supplemental iron she later underwent genetic testing for the Cys282Tyr and His63Asp mutations of the HFE gene. On the basis of these results, she was diagnosed as having hereditary haemochromatosis (HH). This case highlights that a low serum ferritin does not exclude the diagnosis of HH and that the availability of genetic testing can now enable probands and affected family members to be identified.


Publication metadata

Author(s): Catterson PR, Summerfield GP, Beesley JR

Publication type: Article

Publication status: Published

Journal: Clinical and Laboratory Haematology

Year: 1999

Volume: 21

Issue: 2

Pages: 129-131

Print publication date: 01/03/1999

ISSN (print): 0141-9854

ISSN (electronic): 1365-2257

Publisher: Wiley-Blackwell Publishing Ltd.

URL: http://dx.doi.org/ 10.1046/j.1365-2257.1999.00193.x

DOI: 10.1046/j.1365-2257.1999.00193.x

PubMed id: 10342073


Altmetrics

Altmetrics provided by Altmetric


Share