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Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women

Florence Masaisa UGent, Candace Breman UGent, Jean Bosco Gahutu, Joshua Mukiibi, Joris Delanghe UGent and Jan Philippé UGent (2012) ANNALS OF HEMATOLOGY. 91(6). p.911-916
abstract
The Q248H mutation in the gene SLC40A1 which encodes for the cellular iron exporter ferroportin is relatively common in Africa. This mutation has been associated with resistance to hepcidin and therefore we hypothesized that iron-related parameters and the prevalence of opportunistic infections in HIV might be influenced by the Q248H mutation. We conducted a cross-sectional study among 200 HIV-positive women in the Butare University Teaching Hospital in Rwanda. Polymerase chain reaction (PCR) and restriction enzyme digestion were used to identify the Q248H mutation. Physical examination was carried out and WHO HIV disease stage classification, complete blood count, CD4 count, indirect measures of iron status, serum hepcidin, and C-reactive protein concentrations were determined. The prevalence of ferroportin Q248H mutation was 6%. Subjects with ferroportin Q248H mutation had significantly higher values for serum ferritin ( = 0.001) and significantly lower values for serum hepcidin ( = 0.001) and transferrin ( = 0.01). Among the 12 HIV + Q248H heterozygotes, 8 suffered from at least one opportunistic infection. There was significantly higher prevalence of pulmonary TB ( = 0.01) and pneumonia ( = 0.02) in subjects with ferroportin Q248H mutation. Low hepcidin levels were found in ferroportin Q248H heterozygotes with HIV infection, notwithstanding the absence of anemia and the higher prevalence of some opportunistic infections. Hepcidin seems to be regulated in a different way in Q248H heterozygotes than is known thus far.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
IRON OVERLOAD, AFRICAN-AMERICANS, Opportunistic infection, HIV, Ferroportin polymorphism, KAPOSIS-SARCOMA, HEMOCHROMATOSIS, INFECTION, CELLS, GENE, TUBERCULOSIS, PATHOGENESIS, POLYMORPHISM, Hepcidin
journal title
ANNALS OF HEMATOLOGY
Ann. Hematol.
volume
91
issue
6
pages
911 - 916
Web of Science type
Article
Web of Science id
000303800800011
JCR category
HEMATOLOGY
JCR impact factor
2.866 (2012)
JCR rank
28/66 (2012)
JCR quartile
2 (2012)
ISSN
0939-5555
DOI
10.1007/s00277-011-1400-3
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
3023562
handle
http://hdl.handle.net/1854/LU-3023562
date created
2012-10-11 13:44:14
date last changed
2012-10-12 15:26:32
@article{3023562,
  abstract     = {The Q248H mutation in the gene SLC40A1 which encodes for the cellular iron exporter ferroportin is relatively common in Africa. This mutation has been associated with resistance to hepcidin and therefore we hypothesized that iron-related parameters and the prevalence of opportunistic infections in HIV might be influenced by the Q248H mutation. We conducted a cross-sectional study among 200 HIV-positive women in the Butare University Teaching Hospital in Rwanda. Polymerase chain reaction (PCR) and restriction enzyme digestion were used to identify the Q248H mutation. Physical examination was carried out and WHO HIV disease stage classification, complete blood count, CD4 count, indirect measures of iron status, serum hepcidin, and C-reactive protein concentrations were determined. The prevalence of ferroportin Q248H mutation was 6\%. Subjects with ferroportin Q248H mutation had significantly higher values for serum ferritin ( = 0.001) and significantly lower values for serum hepcidin ( = 0.001) and transferrin ( = 0.01). Among the 12 HIV + Q248H heterozygotes, 8 suffered from at least one opportunistic infection. There was significantly higher prevalence of pulmonary TB ( = 0.01) and pneumonia ( = 0.02) in subjects with ferroportin Q248H mutation. Low hepcidin levels were found in ferroportin Q248H heterozygotes with HIV infection, notwithstanding the absence of anemia and the higher prevalence of some opportunistic infections. Hepcidin seems to be regulated in a different way in Q248H heterozygotes than is known thus far.},
  author       = {Masaisa, Florence and Breman, Candace and Gahutu, Jean Bosco and Mukiibi, Joshua and Delanghe, Joris and Philipp{\'e}, Jan},
  issn         = {0939-5555},
  journal      = {ANNALS OF HEMATOLOGY},
  keyword      = {IRON OVERLOAD,AFRICAN-AMERICANS,Opportunistic infection,HIV,Ferroportin polymorphism,KAPOSIS-SARCOMA,HEMOCHROMATOSIS,INFECTION,CELLS,GENE,TUBERCULOSIS,PATHOGENESIS,POLYMORPHISM,Hepcidin},
  language     = {eng},
  number       = {6},
  pages        = {911--916},
  title        = {Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women},
  url          = {http://dx.doi.org/10.1007/s00277-011-1400-3},
  volume       = {91},
  year         = {2012},
}

Chicago
Masaisa, Florence, Candace Breman, Jean Bosco Gahutu, Joshua Mukiibi, Joris Delanghe, and Jan Philippé. 2012. “Ferroportin (SLC40A1) Q248H Mutation Is Associated with Lower Circulating Serum Hepcidin Levels in Rwandese HIV-positive Women.” Annals of Hematology 91 (6): 911–916.
APA
Masaisa, F., Breman, C., Gahutu, J. B., Mukiibi, J., Delanghe, J., & Philippé, J. (2012). Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women. ANNALS OF HEMATOLOGY, 91(6), 911–916.
Vancouver
1.
Masaisa F, Breman C, Gahutu JB, Mukiibi J, Delanghe J, Philippé J. Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women. ANNALS OF HEMATOLOGY. 2012;91(6):911–6.
MLA
Masaisa, Florence, Candace Breman, Jean Bosco Gahutu, et al. “Ferroportin (SLC40A1) Q248H Mutation Is Associated with Lower Circulating Serum Hepcidin Levels in Rwandese HIV-positive Women.” ANNALS OF HEMATOLOGY 91.6 (2012): 911–916. Print.