Blood online
Home About Blood Authors Subscriptions Permission Advertising Public Access contact us
 

 
Advanced
Current Issue
First Edition
Future Articles
Archives
Submit to Blood
Search
American Society of Hematology
Meeting Abstracts
Email Alerts
 Blood, 1 December 2007, Vol. 110, No. 12, pp. 4108-4110.
Prepublished online as a Blood First Edition Paper on September 5, 2007; DOI 10.1182/blood-2007-04-088120.

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Supplemental Tables
Right arrow All Versions of this Article:
blood-2007-04-088120v1
110/12/4108    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Right arrow Rights and Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Holme, S. A.
Right arrow Articles by Badminton, M. N.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Holme, S. A.
Right arrow Articles by Badminton, M. N.
Related Collections
Right arrow Red Cells
Right arrow Brief Reports
Right arrow Clinical Trials and Observations
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

arrow to previous article Previous Article  |  Table of Contents  |  Next Article next article arrow

RED CELLS

Brief Report

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

S. Alexander Holme1, Mark Worwood2, Alexander V. Anstey1, George H. Elder3, and Michael N. Badminton3

Departments of1 Dermatology, 2 Haematology, and 3 Medical Biochemistry and Immunology, University Hospital of Wales and School of Medicine, Cardiff University, Cardiff, United Kingdom

Erythropoietic protoporphyria (EPP) results from deficiency of ferrochelatase (FECH). Accumulation of protoporphyrin IX causes life-long acute photosensitivity. Microcytic anemia occurs in 20% to 60% of patients. We investigated 178 patients with dominant EPP confirmed by molecular analysis. Erythropoiesis was impaired in all patients; all had a downward shift in hemoglobin (Hb), and the mean decreased in males by 12 g/L (1.2 g/dL). By World Health Organization criteria, 48% of women and 33% of men were anemic. Iron stores, assessed by serum ferritin (sFn), were decreased by two-thirds, but normal serum soluble transferrin receptor-1 and iron concentrations suggested that erythropoiesis was not limited by iron supply. FECH deficiency in EPP appears to lead to a steady state in which decreased erythropoiesis is matched by reduced iron absorption and supply. This response may in part be mediated by protoporphyrin, but we found no correlation between erythrocyte protoporphyrin and Hb, sFn, total iron-binding capacity, or transferrin saturation.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 haematolHome page
A. Iolascon, L. De Falco, and C. Beaumont
Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis
Haematologica, March 1, 2009; 94(3): 395 - 408.
[Abstract] [Full Text] [PDF]

Home page
 haematolHome page
J. S. Caudill, H. Imran, J. C. Porcher, and D. P. Steensma
Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH
Haematologica, October 1, 2008; 93(10): 1582 - 1584.
[Full Text] [PDF]


click for free articles
home about blood authors subscriptions permissions advertising public access contact us
  Copyright © 2007 by American Society of Hematology         Online ISSN: 1528-0020