title: Ferroportin Q248H mutation, hyperferritinemia and atypical type 2 diabetes mellitus in South Kivu.
abstract: BACKGROUND
  The ferroportin Q248H mutation is relatively common in sub-Saharan Africa. No previous study examined its relationship with atypical diabetes mellitus (DM) in this area.
  
  
  OBJECTIVE
  To determine the potential interactions between ferroportin Q248H mutation, hyperferritinemia and DM in South Kivu (RDC).
  
  
  METHODS
  Presence of ferroportin Q248H mutation and iron status were investigated in diabetic patients (n=179, age (mean) 57.7 years, CRP (median) 0.16 mg/L) and non-diabetic subjects (n=86, age 44.5 years, CRP 0.07 mg/L) living in the city of Bukavu. Hyperferritinemia was considered for values greater than 200 and 300 μg/L in women and in men, respectively.
  
  
  RESULTS
  The prevalence of ferroportin Q248H mutation [12.1%] was non-significantly higher in diabetics than non-diabetics [14.0% vs. 8.1%, p=0.17]. Similarly, hyperferritinemia frequency was higher in diabetic patients with Q248H mutation [44.0% vs. 14.3%, p=0.16] and in mutation carriers [37.0% vs 16.5%, p=0.001] than in the control groups, respectively. The association between Q248H mutation and DM was nevertheless not significant [adjusted OR 1.70 (95% CI: 0.52-5.58), p=0.37], whereas hyperferritinemia [OR 2.72 (1.24-5.98), p=0.01] showed an independent effect after adjustment for age and metabolic syndrome.
  
  
  CONCLUSIONS
  The present work suggests a potential association between abnormal iron metabolism, ferroportin Q248H mutation and atypical DM in Africans, which may be modulated by environmental factors.
authors.affiliation: Faculty of Medicine NCD's Observatory, Catholic University of Bukavu/VLIR-UOS, PO Box 235, Bukavu, The Democratic Republic of the Congo. philkatch@yahoo.fr
authors.forename: Philippe Bianga
authors.initials: PB
authors.lastname: Katchunga
authors.forename: Marius
authors.initials: M
authors.lastname: Baguma
authors.forename: Jean-René
authors.initials: JR
authors.lastname: M'buyamba-Kabangu
authors.forename: Jan
authors.initials: J
authors.lastname: Philippé
authors.forename: Michel P
authors.initials: MP
authors.lastname: Hermans
authors.forename: Joris
authors.initials: J
authors.lastname: Delanghe
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000097:blood / Q000151:congenital* / Q000208:ethnology / Q000235:genetics; D027682:Cation Transport Proteins / Q000097:blood / Q000235:genetics*; D003430:Cross-Sectional Studies; D015023:Democratic Republic of the Congo / Q000208:ethnology; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000097:blood / Q000151:congenital* / Q000208:ethnology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin