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Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1
  1. Nicola A Panton1,
  2. Natalie Judith Strickland1,
  3. Richard J Hift2,
  4. Louise Warnich1,
  5. Monique G Zaahl1
  1. 1Department of Genetics, University of Stellenbosch, Stellenbosch, South Africa
  2. 2Division of Medicine, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa
  1. Correspondence to Professor Monique G Zaahl, Department of Genetics, Private Bag X1, Matieland 7602, South Africa; mjulies{at}

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Mutations in the UROD gene are demonstrable in approximately only one quarter of all familial porphyria cutanea tarda (PCT) cases with a typical 50% decrease in the catalytic activity of hepatic UROD.1 In the remaining 75% of cases, there is no underlying mutation in the UROD gene, and the disease results from an acquired inhibition of hepatic UROD, referred to as sporadic PCT.

Of importance is a near-universal association between PCT and raised hepatic iron concentrations. Most patients with PCT will have evidence of direct or indirect iron overload, and PCT appears not to develop in the absence of adequate iron stores.1 ,2 Iron alone is insufficient for the precipitation of PCT. It is, however, clear that a complex gene-chemical-environmental interaction is pivotal to the process.2

Our study focused on the regulatory (promoter) regions of four genes that play a significant role in iron homeostasis: ceruloplasmin (CP), cytochrome b reductase 1 (CYBRD1), hepcidin antimicrobial peptide (HAMP) and solute carrier family 40 member A1 (SLC40A1).

Materials and methods

Study cohort

Blood samples were collected from 74 unrelated South African patients (39 male, 35 female) who presented with clinically expressed PCT. Ethnically, the study group included 15 indigenous African patients, eight males (mean age of onset: 49.88±21 years), seven females …

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  • Contributors NP carried out the molecular genetic studies and drafted the manuscript. NS critically revisited the manuscript and contributed to interpretation of the data. RH clinically assessed all patients used in this study and contributed to critical editing of this manuscript. LW contributed in editing the manuscript. MZ is project leader of the study and, therefore, designed and coordinated the study. All authors read and approved the final manuscript.

  • Competing interests None.

  • Ethics approval Stellenbosch University and the University of Cape Town.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.